the evolutionary impact of autopolyploidy in tolmiea...

124
THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA (SAXIFRAGACEAE) By CLAYTON J. VISGER A DISSERTATION PRESENTED TO THE GRADUATE SCHOOL OF THE UNIVERSITY OF FLORIDA IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY UNIVERSITY OF FLORIDA 2017

Upload: others

Post on 27-Jun-2020

0 views

Category:

Documents


0 download

TRANSCRIPT

Page 1: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA (SAXIFRAGACEAE)

By

CLAYTON J. VISGER

A DISSERTATION PRESENTED TO THE GRADUATE SCHOOL OF THE UNIVERSITY OF FLORIDA IN PARTIAL FULFILLMENT

OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY

UNIVERSITY OF FLORIDA

2017

Page 2: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

© 2017 Clayton J. Visger

Page 3: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

To my fiancée Katrin and my mother for their support, and to my late father who has forever been my hero

Page 4: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

4

ACKNOWLEDGMENTS

I am extremely grateful to my advisors Douglas E. Soltis and Pamela S. Soltis,

for their support, encouragement, and most importantly, their patience. I thank the

members of my committee, Emily B. Sessa and Matias Kirst, for their valuable feedback

and aid with my dissertation work. I am indebted to Shannon S. Datwyler for her

mentorship, continued support, and for starting me down the academic path. I also

thank Michael Chester for his friendship, mentorship, and the countless hours spent

discussing all facets of polyploidy. I am thankful to Charlotte Germain-Aubrey, Maya

Patel, and Gane K-S. Wong, for their invaluable collaborative efforts on the dissertation

work presented here. I thank those who I have collaborated with beyond my

dissertation work—in particular Nicolas W. Miles, Andrew A. Crowl, Nico Cellinese,

Evgeny V. Mavrodiev, Paul G. Wolf and Carol A. Rowe. I am also thankful to my lab

mates and colleagues at the University of Florida, Richard Hodel, Shan Shengchen,

Rebbeca L. Stubbs, Jacob B. Landis, Youl Kwon, Xiaoxian Liu, Dr. Jov, and especially

Mathew A. Gitzendanner for everything that he does. Finally, I thank D. Blaine

Marchant, Gregory W. Stull, Daniel Sasson, and Tim Crombie who made graduate

school an endeavor to remember.

Page 5: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

5

TABLE OF CONTENTS page

ACKNOWLEDGMENTS .................................................................................................. 4

LIST OF TABLES ............................................................................................................ 7

LIST OF FIGURES .......................................................................................................... 8

ABSTRACT ................................................................................................................... 10

CHAPTER

1 GENERAL INTRODUCTION .................................................................................. 12

2 NICHE DIVERGENCE BETWEEN DIPLOID AND AUTOTETRAPLOID TOLMIEA (SAXIFRAGACEAE) .............................................................................. 18

Introduction ............................................................................................................. 18 Materials and Methods............................................................................................ 23

Sampling .......................................................................................................... 23

Flow cytometry ................................................................................................. 23 Ecological niche modeling (ENM) ..................................................................... 24

Niche overlap ................................................................................................... 25 Environmental principal component analysis (PCA) ......................................... 26 Physiological response to changes in soil moisture ......................................... 26

Guard cell measurements ................................................................................ 27 Canopy transmittance ...................................................................................... 27

Results .................................................................................................................... 28 Flow cytometry ................................................................................................. 28

ENM and niche overlap .................................................................................... 28 Environmental PCA .......................................................................................... 29 Physiological response to changes in soil moisture ......................................... 30

Guard cell measurements ................................................................................ 30 Canopy transmittance ...................................................................................... 30

Discussion .............................................................................................................. 31 Conclusion .............................................................................................................. 36

3 DIVERGENT GENE EXPRESSION LEVELS BETWEEN DIPLOID AND AUTOTETRAPLOID TOLMIEA RELATIVE TO THE TOTAL TRANSCRIPTOME, THE CELL, AND BIOMASS. .................................................. 46

Introduction ............................................................................................................. 46 Materials and Methods............................................................................................ 51

Results .................................................................................................................... 55 Discussion .............................................................................................................. 57

Page 6: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

6

4 DIFFERENTIAL DROUGHT RESPONSE AND TRANSCRIPTOME SIZE PLASTICITY BETWEEN DIPLOID AND AUTOPOLYPLOID TOLMIEA ................. 75

Introduction ............................................................................................................. 75

Materials and Methods............................................................................................ 80 Results .................................................................................................................... 83 Discussion .............................................................................................................. 85

Variation in the transcriptomic response to drought stress ............................... 86 Differential drought response (DDR) ................................................................ 88

Caveats and conclusions.................................................................................. 92

5 GENERAL CONCLUSIONS ................................................................................. 101

APPENDIX

A BIOCLIMATIC RESPONSE VARIABLES ............................................................. 107

B ENVIRONMENTAL SPACE PCA ......................................................................... 108

LIST OF REFERENCES ............................................................................................. 109

BIOGRAPHICAL SKETCH .......................................................................................... 124

Page 7: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

7

LIST OF TABLES

Table page 2-1 Population locality, ploidal level, elevation, and canopy transmittance of

diploid and tetraploid Tolmiea. Population vouchers are housed in the California State University, Sacramento herbarium (SACT). .............................. 37

2-2 Linear mixed-effects model results for canopy transmittance and physiological response. ...................................................................................... 39

2-3 Guard cell size vs ploidy ..................................................................................... 40

Page 8: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

8

LIST OF FIGURES

Figure page 2-1 Sampling map of the Pacific Northwest. All data points, excluding those in

green, were used for niche model generation. Circles represent data mined from herbaria, while stars represent field-collected accessions with ploidy verified by flow cytometry (FCM). ....................................................................... 41

2-2 Niche suitability across the Pacific Northwest for T. diplomenziesii (blue) and T. menziesii (red) categorized by climatic suitability score as low (0.15–0.3), moderate (0.3–0.5), and high (> 0.5). The dashed line indicates the realized North/South range break for T. diplomenziesii and T. menziesii. ....................... 42

2-3 Observed niche overlap (red dashed line – 0.140) vs. a distribution of 100 niche overlap scores generated under the null assumption of niche equivalency (A) and similarity (T. diplomenziesii vs. T. menziesii, and T. menziesii vs. T. diplomenziesii, B and C, respectively). ..................................... 43

2-4 Tolmiea diplomenziesii (blue) and T. menziesii (red) populations plotted against temperature-related variables (PC1) and precipitation-related variables (PC2). Ellipses represent 90% confidence. ......................................... 44

2-5 Log soil moisture vs. intrinsic water-use efficiency (top), log leaf water content (middle), and log leaf water potential (bottom). Regression lines denote a significant effect on the y-axis due to log soil moisture (gray) or ploidy by soil moisture interaction (colored by species). ..................................... 45

3-1 A simplified example of how spike-in standards can be used during read normalization to enable comparisons of expression level at different biological scales between a hypothetical diploid-polyploid pair with differing cell density. ......................................................................................................... 66

3-2 Generalized distributions of Tolmiea menziesii and Tolmiea diplomenziesii. The population sources for plants used in this study are represented as red triangles (T. diplomenziesii) and blue squares (T. menziesii). ............................ 67

3-3 Results of ploidy variation in leaf cell density using, A) 1C DNA concentration following a DNA/RNA co-extraction, and B) cell counts per 2cm diameter leaf punch. ................................................................................................................. 68

3-4 Results from multiple differential expression analysis. Multi-dimensional scaling (MDS) plots A-C cluster individual based on the 500 most variable loci, with color indicating ploidal level and shape reflecting population of origin. .................................................................................................................. 69

3-5 Sum of read counts normalized per cell, and clustered by population of origin. Diploid and tetraploid mean significantly differed (p < 0.008). ................. 70

Page 9: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

9

3-6 Venn diagram contrasting the three normalization methods. Numbers within the different sections indicate loci that were identified as being differentially expressed between Tolmiea menziesii and T. diplomenziesii. ........................... 71

3-7 Loci binned by their DE categorization across the three normalization approaches. The number of loci belonging to each bin and the results of GO enrichment analyses are reported below the corresponding bin. Bins containing no loci are not shown. ....................................................................... 72

3-8 A simplified example of two observed interactions between expression level and cell density. Conservation of gene expression per biomass occurs when expression level per cell in samples with lower cell density is up-regulated enough to yield equivalent levels of transcript per unit biomass. ........................ 73

3-9 Adapted from data collected from Visger et al. 2016. Tolmiea diplomenziesii and T. menziesii did not significantly differ in photosynthetic output under common garden conditions in the greenhouses of University of Florida. ............ 74

4-1 Bar plot of the total transcriptome size per cell (the sum of per cell normalized read counts). Bar colors represent treatment day, and are grouped by individual. ......................................................................................... 95

4-2 MDA plot of the 500 most variable loci. Diploids and autotetraploids are outlined in red and green respectively, and individuals coming from different populations are distinguished by shape. Dotted lines connect each day of treatment with the corresponding individual. ...................................................... 96

4-3 Six clusters of genes exhibiting a significantly different response per transcriptome to drought over time between T. diplomenziesii and T. menziesii. Significant functional enrichments are listed beside the clusters. ..... 97

4-4 Six clusters of genes exhibiting a significantly different response per biomass to drought over time between T. diplomenziesii and T. menziesii. Significant functional enrichments are listed beside the clusters. ........................................ 98

4-5 Six clusters of genes exhibiting a significantly different response per cell to drought over time between T. diplomenziesii and T. menziesii. Significant functional enrichments are listed beside the clusters, with cluster 4 and 5 combined due to overall similarity. ...................................................................... 99

4-6 Venn diagram depicting the distribution of loci identified as responding differently to drought per transcriptome, per biomass, and per cell. ................. 100

Page 10: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

10

Abstract of Dissertation Presented to the Graduate School of the University of Florida in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy

THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA

(SAXIFRAGACEAE)

By

Clayton J. Visger

May 2017

Chair: Douglas E. Soltis Cochair: Pamela S. Soltis Major: Botany

Polyploidy, a phenomenon involving the duplication of an organism’s

chromosome complement, is both frequent amongst Angiosperms and of major

evolutionary importance. The genus Tolmiea (Saxifragaceae) is comprised of the diploid

T. diplomenziesii and its autotetraploid derivative, T. menziesii, making it an ideal

natural system for investigating the impact of polyploidy. Using a multidisciplinary

approach I explore the ecological, physiological, and genomic divergence following

polyploidy in Tolmiea. Using an ecological modeling approach I characterize the

climatic preferences of diploid and polyploid Tolmiea, inferring that they differ most in

preferred water availability. Treating the model-based inferences as a testable

hypothesis I experimentally test the physiological response of both species to changing

soil moisture, and uncover evidence of an adaptive crossover in water-use efficiency.

To investigate the transcriptional change invoked by polyploidy I build on recent

RNAseq methodologies, developing a single assay approach to quantify transcript

abundance per transcriptome, per cell, and per unit biomass. I apply this transcript

quantification methodology towards understanding the contribution of increased gene

Page 11: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

11

dosage to differential drought response, and find T. menziesii to be more

transcriptionally active in response to drought. Taken together, the results of this

multidisciplinary study indicate that following polyploidization T. diplomenziesii and T.

menziesii have come to occupy divergent ecological niches reflecting their differences in

water-use physiology. This ecophysiological divergence correlates with major changes

in transcriptional response to drought, and is indicative of gene dosage playing a role in

the common observation that polyploids differ from their diploid progenitors with respect

to ecological niche.

Page 12: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

12

CHAPTER 1 GENERAL INTRODUCTION

Polyploidy (whole-genome duplication; WGD) has long been considered an

evolutionary dead-end by many, including some of the most prominent evolutionary

biologists of the past century (Stebbins, 1950; Wagner, 1970). However, during the last

two decades there has been a resurgence of interest, not only in the frequency of

polyploidy, but also on the impact of polyploidy from a genomic perspective (e.g., Gaeta

et al., 2007; Doyle et al., 2008; Soltis and Soltis, 2009; Gaeta and Pires, 2010; Salmon

et al., 2010; Greilhuber et al., 2012; Shi et al., 2012; Soltis et al., 2012, 2014; Madlung

and Wendel, 2013). Of the ~300,000 species of angiosperms (Christenhusz et al.,

2016), traditional estimates of the frequency of polyploidy ranged from 30-80%

(Stebbins, 1950; Lewis, 1980; Masterson, 1994). Recent genomic studies reveal,

however, that all angiosperms have experienced one or more rounds of ancient genome

duplication (Cui et al., 2006; Soltis et al., 2009; Jiao et al., 2011, 2012; Van de Peer,

2011; Van de Peer et al., 2009; Amborella Genome Project, 2014).

Despite the recent refocus on polyploidy, crucial questions remain

uninvestigated. Two types of polyploidy are generally recognized: autopolyploidy,

duplication of the same or highly similar genomes, and allopolyploidy, duplication of two

or more divergent genomes. Due in part to early and influential researchers considering

autopolyploids to be infrequent and maladaptive (Stebbins, 1950; Grant, 1981), they

have historically been understudied in all aspects relative to their allopolyploid

counterparts. Stebbins (1950), an architect of the evolutionary synthesis and a hugely

influential figure in the study of polyploidy, recognized only Galax urceolata as an

unambiguous example of autopolyploidy. As noted, the study of polyploidy has

Page 13: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

13

undergone a revival, and with that revival has come an increasing recognition of the

importance of autopolyploidy, both in its frequency and its evolutionary significance

(reviewed in Soltis and Soltis, 1993; Tate et al., 2005; Soltis et al., 2007). Autopolyploids

may be morphologically indistinguishable from or highly similar to their diploid parents

and therefore often represent cryptic species (Soltis et al., 2007). Although the ability of

autopolyploids to persist through time has been questioned (Felber, 1991), successful

autopolyploids are now considered common (Barker et al., 2016). As researchers

continue to employ high-throughput methods of assessing genome size and ploidal

level, the estimated frequency and success of autopolyploidy in nature will certainly rise.

Despite recent recognition of its frequency, we still know very little about the

ecological impact of autopolyploidy. Ecological niche modeling has been applied to a

few autopolyploid complexes. In most cases these studies have revealed that following

formation, an autopolyploid diverges from the niche space occupied by its parental

diploid (Glennon et al., 2012; McIntyre, 2012; Theodoridis et al., 2013; Marchant et al.,

2016). Whether immediate physiological effects of autopolyploidy contribute to shifts in

niche space has only been explored in a few systems (e.g., Maherali et al., 2009;

Ramsey, 2011), and in these cases the underlying genetic effects of autopolyploidy

were not explored.

Numerous recent investigations have addressed the genomic and transcriptomic

consequences of allopolyploidy (e.g., Liu et al., 2001; Chelaifa et al., 2010; Ainouche et

al., 2012; Buggs et al., 2012), but few have involved autopolyploids; of which most have

focused on synthetic autopolyploids in model systems (e.g., Arabidopsis - Li et al.,

2012) or crops (e.g., Stupar et al., 2007; Wright et al., 2009). Additionally, while both

Page 14: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

14

microarray and RNAseq data have been applied to assess global gene expression

change in several allopolyploids (e.g., Ilut et al., 2012; Combes et al., 2013; Yoo et al.,

2013; Akama et al., 2014), our understanding of autopolyploid gene expression relies

on inferences extrapolated from surveys of <20 genes (e.g., Guo et al., 1996; Yao et al.,

2011; Li et al., 2012b), a few microarray studies of crops (e.g., Stupar et al., 2007;

Muthiah et al., 2012), and RNAseq investigations into Arabidopsis (Del Pozo and

Ramirez-Parra, 2014).

Furthermore, no prior work has attempted to link the physiological and gene

expression effects of autopolyploidy with niche divergence. Hence, the ecological and

evolutionary implications of whole-genome duplication in natural autopolyploids are ripe

for study. Elucidating the consequences of genome doubling and autopolyploid

evolution requires first establishing a foundational understanding of how successful

autopolyploids diverge from their parents as well as insights into the genomic

consequences of a duplicated genome.

The angiosperm Tolmiea (Saxifragaceae) represents a potential model for the

study of natural autopolyploidy. Currently circumscribed within Tolmiea are only two

species: the autotetraploid T. menziesii (2n = 28) and its diploid progenitor T.

diplomenziesii (2n = 14) (Judd et al., 2007). Factors that commonly confound other

autopolyploid systems are lacking in Tolmiea. There is only one diploid entity, and the

close relatives of Tolmiea are highly distinct in morphology and phylogenetically (Soltis,

1984; Soltis and Kuzoff, 1995; Deng et al., 2015; Folk et al., in prep.). Hence, there are

no other closely related species that may have contributed to the formation of the

tetraploid other than T. diplomenziesii. That is, Tolmiea is an indisputable example of

Page 15: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

15

autopolyploidy in nature, which is supported by documented tetrasomic inheritance

patterns (Soltis and Soltis, 1988) and extremely high allozyme similarity between the

diploid and tetraploid (Soltis and Soltis, 1989). Although most polyploids seem to have

formed multiple times, previous research indicates a single origin of the autotetraploid T.

menziesii (Soltis et al., 1989), another advantage for a detailed comparison of a diploid

and autotetraploid. Finally, both species inhabit a range within the Pacific Northwest of

the United States with similar longitude, but different latitudes, with T. menziesii

occurring north of central Oregon and T. diplomenziesii occurring south of the tetraploid

(Soltis, 1984; Judd et al., 2007). Within most sympatric polyploid systems, gene flow

remains possible, with triploid intermediates representing the most probable genetic

bridge between cytotypes. Tolmiea menziesii and T. diplomenziesii are not sympatric,

and previous cytological studies did not find triploid intermediates, suggesting that

interspecific gene flow currently does not occur or is rare (Soltis, 1984).

For my Ph.D. at the University of Florida I elected to further develop Tolmiea as a

natural model system for the study of autopolyploidy, leveraging ecological,

physiological, and novel genomic and transcriptomic approaches to better understand

the impact of autopolyploidy within an evolutionary framework. The four main questions

that my project sought to address are: 1) did niche divergence contribute to the

observed allopatric distributions following autopolyploidization in Tolmiea?; 2) do diploid

and autotetraploid Tolmiea differ in their physiological response to stress?; 3) what are

the consequences of autopolyploidy on gene expression, and does gene function play a

role in dosage response?; and 4) when subjected to an ecologically significant stressor,

do diploid and autotetraploid Tolmiea differ in their transcriptional response? Below, I

Page 16: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

16

discuss the three research-based chapters of my dissertation and describe the roles

they play in answering the questions outlined above.

In Chapter 2 I investigate whether abiotic niche divergence has shaped the

current allopatric distribution of diploid T. diplomenziesii and its autotetraploid derivative,

T. menziesii, in the Pacific Northwest of North America (question 1) (Visger et al., 2016).

Using an integrative approach, I employed field measures of light availability, as well as

ecological niche modeling and a principal component analysis of environmental space.

This study revealed that diploid and autotetraploid Tolmiea inhabit significantly different

climatic niche spaces. The climatic niche divergence between these two species is best

explained by a shift in precipitation availability. I experimentally tested the impact of

changing water availability, finding evidence of differing physiological response to water

availability between these species (question 2).

In Chapter 3, I focus on methods for characterizing gene expression level when

transcriptome size might vary between ploidal levels. Using diploid and autotetraploid

Tolmiea as a case study, I demonstrat how spike-in RNA standards can be useful for

teasing apart shifts in total transcriptome size and cell density from sequencing depth

variation introduced while normalizing next-generation RNA sequence (RNAseq)

datasets. I build on the previously suggested use of RNA spike-ins (Lovén et al., 2012),

using them to conduct differential expression analyses across multiple biological scales,

including a novel comparison of expression level per biomass. By comparing expression

level change per transcriptome, per cell, and per biomass, I characterize a higher

fraction of the transcriptome as differentially expressed between a diploid-autopolyploid

species pair than previously reported to date (question 3).

Page 17: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

17

Chapter 4 of my dissertation ties together the insights obtained from Chapter 2,

the importance of water availability, and Chapter 3, gene expression divergence,

focusing on the transcriptional response to stress. Using the conclusions from Chapter

2 regarding the divergence in habitat water availability between diploid and tetraploid

Tolmiea, I elected to focus on the differences in transcriptional response to drought over

time. By incorporating the multiple-normalization method described in Chapter 3, I was

able to identify gene functional categories that respond to drought differentially between

the diploid and tetraploid across three biological scales. Notably, I found evidence

suggesting that the tetraploids were much more variable in their transcriptional

response relative to their diploid progenitors. Additionally, the tetraploids, which

photosynthesize more highly per cell than the diploids while well-watered, were inferred

to be disproportionally affected by drought with respect to reactive oxygen species

(ROS; a by-product of photosynthesis) accumulation in the apoplast. The tetraploids

exhibited a higher expression per biomass of multiple gene functional categories related

to ROS scavenging after 24 hours of drought stress before dropping down to diploid-like

levels. Additionally, the gene expression results suggest that in response to drought the

tetraploids dramatically reduce their tetrapyrrole production, a key component for the

synthesis of chlorophyll, and likely a key contributor to the reduction in tetraploid

photosynthesis during drought, and thereby a mechanism for restoration of redox

homeostasis.

Page 18: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

18

CHAPTER 2 NICHE DIVERGENCE BETWEEN DIPLOID AND AUTOTETRAPLOID TOLMIEA

(SAXIFRAGACEAE)1

Introduction

Estimates of the frequency of polyploidy in angiosperms have ranged from 30%

(Stebbins, 1950) to 70% (Masterson, 1994; see Grant, 1981, for range of values), with

analyses of genomic data demonstrating that all angiosperms have undergone at least

one round of whole-genome duplication (Jiao et al., 2011; Amborella Genome Project,

2014; see also Cui et al., 2006; Soltis et al., 2009; Van de Peer et al., 2009; Van de

Peer, 2011). Despite the wide recognition of the prevalence of polyploidy, both its

evolutionary role and the importance in angiosperm diversification have remained

subjects of debate (e.g., Arrigo and Barker, 2012; Mayrose et al., 2011; Scarpino et al.,

2014; Tank et al., 2015; for review see Soltis et al., 2014a). The evolutionary fate of

polyploidy rests on the assumption that, following formation, polyploids diverge from

their progenitors with respect to ecology, geography, or other factors, or a combination

of these properties (e.g., Fowler and Levin, 1984; Levin, 1983, 2002).

Two types of polyploidy have generally been recognized: autopolyploidy and

allopolyploidy (Kihara and Ono, 1926; Muntzing, 1936; Darlington, 1937; Clausen et al.,

1945; Grant, 1981). Traditionally, autopolyploidy was considered extremely rare in

nature and maladaptive (Stebbins, 1950; Grant, 1981). Stebbins (1950), for example,

recognized only one unambiguous autopolyploid, Galax urceolata. Accompanying the

recent revival of research on polyploidy has been an increasing recognition of the

frequency and importance of autopolyploidy in nature (reviewed in Soltis and Soltis,

1 This work was previously published in the American Journal of Botany. 2016 Aug;103:1396-1406. doi: 10.3732/ajb.1600130

Page 19: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

19

1993; Ramsey and Schemske, 1998, 2002; Tate et al., 2005; Soltis et al., 2007; Parisod

et al., 2010). Autopolyploids are now considered much more frequent than previously

thought, with ~25% of all investigated plant species containing multiple cytotypes (races

of different ploidy, generally presumed to be of autopolyploid origin) (e.g., Soltis et al.,

2014a; Barker et al., 2015; Rice et al., 2015).

While autopolyploidization can serve as an instant sympatric speciation

mechanism, it is also a double-edged sword, potentially yielding an isolated polyploid

individual surrounded by a population of closely related diploid organisms, subjected to

a frequency-dependent mating disadvantage (minority cytotype exclusion or MCE—

Levin, 1975; Fowler and Levin, 1984). Ramsey and Schemske (1998, 2002) estimated

the rate of unreduced gamete formation in angiosperms (~0.5–2%), concluding that

autopolyploids must form at relatively high frequency in natural populations, while also

inferring a high rate of failure to establish. To succeed as a new species, the nascent

autopolyploid must reach establishment by one of several (nonmutually exclusive)

methods: supplanting the progenitor population, achieving a chance colonization of

disturbed or recently opened habitat, or shifting its optimal niche conditions (Fowler and

Levin, 1984; Levin, 1983, 2002).

Several studies have investigated the niche differences between autopolyploids

and their diploid progenitors, with mixed results. In some cases, autopolyploidy was

accompanied or followed by niche divergence from the parental diploid (Glennon et al.,

2012; McIntyre, 2012; Theodoridis et al., 2013; Thompson et al., 2014). In contrast,

diploid and autotetraploid cytotypes of Heuchera cylindrica, for example, do not have

divergent niche requirements, despite occupying largely allopatric ranges (Godsoe et

Page 20: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

20

al., 2013). In another example, reciprocal transplanting of diploid and autotetraploid

Ranunculus adoneus revealed that niche divergence did not contribute to autotetraploid

establishment (Baack and Stanton, 2005). These seemingly contrasting results may be

explained by lineage-specific effects of polyploidy on plant physiology and abiotic stress

response. Unfortunately, however, the immediate physiological effects of polyploidy in

an ecological context remain unclear in all but a few systems (e.g., Maherali et al.,

2009; Ramsey, 2011; del Pozo and Ramirez-Parra, 2014). The effects of polyploidy are

by no means expected to be consistent across angiosperms, and therefore, the role of

stochastic establishment vs. niche divergence in the facilitation of neopolyploid

establishment needs to be evaluated on a case-by-case basis. To begin assessing the

lineage-specific effects of autopolyploidy on niche divergence, there is a need to

investigate additional autopolyploid systems, both on a broad climatic scale, and from a

more narrow experimental perspective.

The angiosperm genus Tolmiea Hook. (Saxifragaceae) is an excellent system for

the study of naturally occurring autopolyploidy. Tolmiea includes only two species,

which until recently were considered cytotypes within a single species (Soltis, 1984;

Judd et al., 2007 ). Tolmiea is now circumscribed as the autotetraploid T. menziesii

(Pursh) Torr. & A. Gray (2n = 28) and its diploid progenitor, T. diplomenziesii Judd, D.

Soltis & P. Soltis (2n = 14) (Judd et al., 2007). Both species inhabit coastal understories

of the Pacific Northwest of North America (hereafter referred to as the Pacific

Northwest), but they occupy distinct, nonoverlapping latitudinal ranges, with T. menziesii

occurring from central Oregon to south-eastern Alaska, and T. diplomenziesii from

northern California to central Oregon (Figure 2-1).

Page 21: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

21

Factors that commonly confound inference of the mode of polyploid origin are not

factors in Tolmiea. Tolmiea is morphologically, genetically, and phylogenetically distinct

from all other genera in Saxifragaceae (Soltis, 1984; Soltis and Kuzo, 1995; Soltis et al.,

1989, 2001), and it has no close relatives that may have contributed a second genome

to the formation of the tetraploid (reviewed in Judd et al., 2007). Furthermore, T.

menziesii exhibits tetrasomic inheritance (Soltis and Soltis, 1988), which is an

expectation of autotetraploids but not allotetraploids (which maintain disomic

inheritance). All of these features make T. menziesii one of the most clear-cut

autopolyploids in nature (Soltis and Soltis, 1989; Judd et al., 2007). In addition, whereas

many polyploids seem to have formed multiple times (Doyle et al., 2004; Mavrodiev et

al., 2015; Soltis and Soltis, 2009), both previous and ongoing research, including

restriction-site analyses (Soltis et al., 1989) and phylogenetic analyses of plastid

sequences, ITS sequences, and transcriptome data (C. Visger, University of Florida,

unpublished data), indicates fewer origins of T. menziesii than other well-documented

autopolyploids (e.g., Servick et al., 2015); it has formed once or perhaps only a few

times during a limited time frame.

Here, we investigate the factors contributing to the nonoverlapping geographic

ranges of T. menziesii and T. diplomenziesii. Specifically, we ask whether their spatial

separation can be explained by climatic niche divergence, rather than chance

geographical isolation. In a review spanning both auto- and allopolyploids, Glennon et

al. (2014) found that polyploid species most o en occupied niche spaces that were a

subset of their progenitors’ niches, indicating that ecological novelty might not be the

most common mode of establishment. Rather, as observed between diploid and

Page 22: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

22

autotetraploid cytotypes of Heuchera cylindrica (Godsoe et al., 2013) and Ranunculus

adoneus (Baack and Stanton, 2005), spatial separation unaccompanied by niche

divergence can serve as a mechanism for escape from minority cytotype disadvantage.

Although allopolyploids may exhibit a range of niche spaces relative to those of their

parents (Marchant et al., 2016), given the results for Heuchera cylindrica (a species

closely related to Tolmiea; Soltis et al., 2001) (Godsoe et al., 2013) and the

autopolyploid nature of T. menziesii, niche equivalency (conservatism) between T.

diplomenziesii and T. menziesii is our null expectation, with subsequent divergence

occurring only in spatial distribution.

To address whether spatial separation between T. menziesii and T.

diplomenziesii is accompanied by abiotic niche divergence, we integrated comparisons

of climatic niche, field-based measurements, and physiology within a common garden.

We applied niche modeling to estimate the climatic niche spaces of T. menziesii and T.

diplomenziesii, followed by an ordination-based analysis of climatic variables to provide

an independent assessment of shifts in environmental space between T. diplomenziesii

and T. menziesii. Both species are shade-loving understory plants, therefore, we used

measures of canopy transmittance to identify whether divergence in shade preference

has occurred. Finally, we integrated physiological comparisons with our investigation of

climatic niche divergence by simulating drought conditions in a common garden to

experimentally test the hypothesis that T. menziesii and T. diplomenziesii differ in

response to drought stress.

Page 23: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

23

Materials and Methods

Sampling

Thirty-one populations of Tolmiea were sampled across northern California and

the Pacific Northwest in June 2013. Leaf tissue was collected in silica desiccant from

multiple individuals spaced at least 5 m apart to minimize the possibility of resampling

clonal genotypes. Two live plants per population were transported to the greenhouses

at the University of Florida, where they were clonally propagated and raised in a

common garden. Additionally, two voucher specimens were collected from each

population and deposited in the California State University, Sacramento Herbarium

(SACT) (Table 1 for voucher information).

Flow cytometry

Flow cytometry was used to infer the ploidy of two individuals per population.

Given the nonoverlapping ranges of T. diplomenziesii and T. menziesii, as well as

previously published evidence supporting the absence of mixed-ploidy populations

(Soltis, 1984; Soltis and Soltis, 1989), this sampling strategy was considered sufficient

to estimate the ploidy of each population. Flow cytometry methods were modified from

Hanson et al. (2005). Approximately 2.5 cm2 of silica-dried leaf tissue were suspended

in 500 μL of ice-cold extraction buffer (0.1 M citric acid, 0.5% v/v Tri- ton X-100, 1% w/v

PVP-40) and co-chopped with 1 cm2 of standard [Pisum sativum ‘citrad’; 9.09 pg

(Doležel et al., 1998)] in a plastic petri dish over a chilled brick with a fresh razor blade.

Tissue was chopped ~45–60 s, until it resulted in a fine slurry. The resulting slurry was

swirled by hand until the extraction buffer obtained a light-green tinge. A 100-μm mesh

filter (BD Falcon; Becton, Dickinson and Company, Franklin Lakes, NJ, USA) was used

to strain the solution. After straining, 140 μL of filtrate were treated with 1 μL of RNaseA

Page 24: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

24

(1 mg/mL) and 350 μL of a propidium iodide staining solution (0.4 M NaPO4, 10 mM

sodium citrate, 25 mM sodium sulphate, 50 μg/mL propidium iodide) and incubated on

ice for approximately 3 h. An Acuri C6 (BD Biosciences, USA) was used to analyze the

stained solutions until 10,000 events were captured, and genome size and ploidy were

inferred relative to the internal standard.

Ecological niche modeling (ENM)

Occurrence data for both Tolmiea species (359 points) were mined from the

Consortium of Pacific Northwest Herbaria (http://www.pnwherbaria.org) and added to

the localities of the 31 field-sampled populations. Given the recent description of diploid

Tolmiea as T. diplomenziesii (Judd et al., 2007), many diploid specimens in herbaria are

still referred to as T. menziesii because of insufficient time for annotation of specimens.

Therefore, herbarium data from central Oregon (where ranges of T. diplomenziesii and

T. menziesii abut) were excluded: only populations from this region for which ploidy was

verified via flow cytometry were used (see Figure 2-1). Duplicate specimen records

were removed from the data set. Additionally, occurrence data were examined visually,

and any cases of clear misidentification were removed (e.g., an occurrence was

reported in eastern Oregon where Tolmiea does not occur). In total, 310 data points

were used, 72 for T. diplomenziesii and 207 for T. menziesii.

Bioclimatic and elevation layers were obtained from Worldclim (Hijmans et al.,

2005) at 30 arcsec resolution. In some cases, information on soil type can provide

valuable information for ENM; however, for this study we found the resolution of

publically available soil layers to be too coarse-grained to be informative at the

geographic scale investigated here. Additionally, the ability of both T. diplomenziesii and

Page 25: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

25

T. menziesii to thrive on both rich soil and bare, rocky seeps suggests that soil type is

not likely to be a major determinant of habitat suitability. We therefore opted to

investigate only the climatic and elevation layer sets.

Elevation and all 19 Bioclim layers were tested for correlation within the Pacific

Northwest, and a cutoff of 0.7 Pearson’s correlation coefficient was imposed to reduce

the number of layers for subsequent analyses. Eight layers were retained for the final

analysis: Bio2 (mean diurnal range), Bio5 (max temperature of warmest month), Bio8

(mean temperature of wettest quarter), Bio11 (mean temperature of coldest quarter),

Bio15 (precipitation of driest month), Bio16 (precipitation of seasonality), Bio17

(precipitation of driest quarter), and Bio18 (precipitation of warmest quarter).

Niche models were generated using the logistic output from MaxEnt (ver. 3.3.3k;

Phillips et al., 2004, 2006). With the exception of using 15 subsampled replicates, a

25% random test percentage, and 5000 maximum iterations, default settings were used.

The model accuracy was evaluated by the area under the curve (AUC) statistic, which

reflects the ability of the model to correctly predict the occurrence of training points, as

well as visual comparison of the training and testing output curves and our expert

knowledge on the habitat map.

Niche overlap

Overlap between the niche space of T. diplomenziesii and T. menziesii was

summarized using Schoener’s D from 0 (no similarity) to 1 (complete similarity) (Warren

et al., 2008; Broennimann et al., 2012). We then compared our observed niche overlap

against null distributions of niche overlap scores generated under both the assumptions

of niche equivalency and similarity within environmental space (following Broennimann

et al., 2012) using an ordination-based approach shown to be less prone to biases

Page 26: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

26

associated with model-based tests of niche divergence (see Glennon et al., 2014).

Background environmental space was defined using climate data extracted from 10,000

random points (both 500 and 1000 background points were also used and did not yield

differing results) across the realized range of T. menziesii and T. diplomenziesii using

the QGIS point sampling tool, and the similarity and equivalency tests were

implemented in the R package ecospat (Broennimann et al., 2014) with 100 replicates

each.

Environmental principal component analysis (PCA)

Climatic values from each minimally correlated climatic layer were extracted for

each occurrence point. The resulting matrix was then transformed into principal

components using JMP pro (version 12; SAS Institute, Cary, NC, USA), and visual

inspection of a scree plot was used to assess the number of components to retain.

Using R (R Development Core Team, 2015), occurrence points were plotted against the

optimal number of principal components best explaining the data set.

Physiological response to changes in soil moisture

Twelve clonally propagated plantlets (six T. diplomenziesii and six T. menziesii)

were grown in a soil mix containing 1/8 sand, 1/8 fine gravel, and 3/4 Professional

Growing Mix (Sun Gro Horticulture, Agawam, MA, USA) under common conditions in

the greenhouses at the University of Florida. Over a 17-d period, watering was ceased,

and soil moisture (percent volumetric water content), leaf water potential (ΨLEAF

), and

intrinsic water-use efficiency (WUE—the ratio between CO2 assimilation (A) and

stomatal conductance (gs)) were measured on five separate days (1, 3, 10, 15, and 17 d

after water cessation) using a soil moisture meter (10HS; Decagon Devices, Pullman,

Page 27: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

27

WA, USA), Scholander pressure chamber (Model 600D; PMS Instrument Company,

Albay, OR, USA), and an open gas-exchange system (Li-Cor 6400; Li-Cor, Lincoln, NE,

USA), respectively. Additionally, leaf punches of standardized area were collected from

each individual plant on days 1, 3, 10, 15, and 17 post watering, and weighed. The leaf

punches were then dried at 70°C overnight and reweighed for dry weight. Leaf water

content was calculated on a fresh weight basis using the formula (fresh weight–dry

weight)/fresh weight × 100. Each data set was checked for normality and log

transformed if it significantly deviated from a normal distribution. A linear mixed-effect

model was implemented in JMP pro to assess the effects of ploidy, soil moisture, and

ploidy by soil moisture, with individual as a random effect, on leaf water potential, leaf

water content, and WUE.

Guard cell measurements

The abaxial leaf surface was painted with a thin layer of clear nail polish and

allowed to dry, and the nail polish was carefully peeled away from the leaf, yielding a

negative epidermal impression. These negative epidermal impressions were measured

using a phase microscope under a 40× objective and photographed using a Nikon

Coolpix 950. Image analysis was conducted using Fiji (Schindelin et al., 2012), and

length/width of guard cells was recorded using pixels as the unit of measure, allowing

for comparisons of relative size differences. The effect of ploidy on length, width, and

area of guard cells was tested using a t test implemented in JMP pro.

Canopy transmittance

The percentage of total light transmitted through the canopy was assessed using

methods modified from Sessa and Givnish (2014). Digital hemispherical photographs

were taken above a plant, with five plants per population across 31 populations using a

Page 28: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

28

camera with a fisheye lens attachment (Nikon Coolpix 950 with FC-E8 fisheye). Data for

five populations were removed because of equipment failure (see Table 2-1). Given the

potential for clonality in Tolmiea, we scattered our data collection locations within each

population, with no image being taken within 10 m of an already photographed location.

The camera was oriented due North using a compass and leveled with a bubble level.

Images were analyzed using the Gap Light Analyzer (GLA) software (Frazer et al.,

1999), and saturation levels were adjusted by eye by a single researcher (CJV). A linear

mixed-effect model was implemented in JMP pro 12 to assess the effects of ploidy and

elevation, with population as a random effect, on the per-population average canopy

transmittance.

Results

Flow cytometry

Ploidy estimates using flow cytometry readily distinguished T. diplomenziesii and

T. menziesii (populations for which ploidy was verified using FCM are identified using

stars in Figure 2-1). Populations south of central Oregon were confirmed to be diploids

(2n = 2x = 14), and those samples north of central Oregon were tetraploid (2n = 4x =

28). No triploid individuals were found using this approach, supporting the findings of

Soltis (1984) and Soltis and Soltis (1989) regarding the rarity or nonexistence of triploid

Tolmiea in nature.

ENM and niche overlap

Over 15 replicate runs, the niche models generated for T. diplomenziesii and T.

menziesii yielded mean ± SD. AUC scores of 0.962 ± 0.015 and 0.929 ± 0.012, implying

very low rates of false negative and false positive suitability predictions (for response

curves see Figure A-1). The climatic niche spaces of both species closely mirror their

Page 29: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

29

realized ranges, with the climatic niche space of T. diplomenziesii slightly expanded

northward beyond the realized range (Figure 2-2). The niche overlap of T.

diplomenziesii and T. menziesii within environmental space (Schoener’s D = 0.140;

Figure 2-3 dashed line) was significantly lower than the null distribution under niche

equivalency (Figure 2-3A solid histogram; p = 0.0198). Using the niche similarity test,

we found that T. diplomenziesii and T. menziesii are neither more nor less similar than

expected by chance within environmental space (T. diplomenziesii vs. T. menziesii, and

T. menziesii vs. T. diplomenziesii, p = 0.267 and p = 0.376, Figure 2-3B and Figure 2-

3C, respectively; for the related PCA plots, see Figure B-1). We therefore reject the null

hypothesis that T. menziesii inhabits a climatic niche space equivalent to T.

diplomenziesii, while acknowledging that the climatic regimes they occupy may be only

subtly divergent.

Environmental PCA

Two principal components explain the majority of the environmental variation

across the distribution of the entire Tolmiea data set (Figure 2-4), with an eigenvalue of

3.1368, which dropped dramatically when a third component was included (eigenvalue

= 0.6402). Principal component 1 (PC1) represented 43.6% of the variation and was

most explained by mean temperature of the wettest quarter (eigenvector 0.507) and

mean temperature of the coldest quarter (eigenvector 0.501). Principal component 2

(PC2) represented 39.2% of the variation and was most explained by precipitation of the

driest quarter (eigenvector 0.518) and precipitation of the warmest quarter (eigenvector

0.534). Neither of the major contributing variables of PC1 was strongly correlated with

any precipitation variables removed prior to model generation, and neither of the PC2

major contributors was correlated strongly with removed temperature variables. The

Page 30: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

30

PCA reveals a large overlap in environmental space between T. diplomenziesii and T.

menziesii along the temperature-related axis (PC1), with the tetraploid showing greater

breadth. However, along the precipitation-related axis (PC2), there is very little overlap

between the two species, with T. diplomenziesii inhabiting drier conditions than T.

menziesii (Figure 2-4).

Physiological response to changes in soil moisture

Soil moisture, leaf water content, and leaf water potential collected over the

course of the 17-d dry down in the common garden deviated from normal distributions

and were log transformed prior to statistical analysis. Leaf water content was not

significantly affected by any of the investigated variables (ploidy, soil moisture, and

ploidy by soil moisture); ploidy by soil moisture was nearly significant with p = 0.07). Soil

moisture had a significant effect on leaf water potential (p < 0.0001) (Table 2-2, Figure

2-5). Conversely, WUE was significantly affected by soil moisture (p = 0.0372) and the

ploidy by soil moisture interaction (p = 0.0368) (Table 2-2, Figure 2-5).

Guard cell measurements

Guard cell dimensions did not differ between T. diplomenziesii and T. menziesii (t

test; Table 2-3). Mean ±SD guard cell length, width, and area for diploids were 135.7 ±

19.0 pixels, 108.0 ± 12.6 pixels, and 14,808.7 ± 3601.3 pixels2, whereas corresponding

guard cell dimensions for tetraploids were 130.7 ± 19.6 pixels, 104.5 ± 13.5 pixels, and

13,802.0 ± 3500.7 pixels2.

Canopy transmittance

Canopy transmittance across the data set showed high levels of variation within

and between populations of both species, overwhelming any small differences that

might be present between species (Table 2-1). The range of canopy transmittances for

Page 31: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

31

diploid populations was 5.2–22.4% (mean ± SD = 9.9 ± 3.9%), and was very similar to

the range for the tetraploid populations of 5.1–25.9 (mean ± SD = 10.8 ± 3.7%). Neither

ploidy alone (p = 0.2056) nor ploidy by elevation (p = 0.9023) had a significant effect on

canopy transmittance, although increasing elevation did have a significant positive

effect on canopy transmittance (p = 0.0242) (Table 2-2).

Discussion

Autotetraploids in general tend to represent a discrete subset of the genetic

variation encompassed by all of the populations of their diploid progenitor, which,

barring any polyploidy-derived changes, should translate initially to a conserved

physiology and niche preference. Using a novel integration of niche modeling, field

measurements, and physiological investigations, we found evidence for both abiotic

niche differentiation and corresponding physiological divergence between a diploid

parent and its autopolyploid derivative.

Tolmiea diplomenziesii and T. menziesii are highly similar in morphology,

flavonoids (Soltis and Bohm, 1986), allozymes (Soltis and Soltis, 1989), rDNA restriction

sites (Soltis and Doyle, 1987), and ITS sequences (C. J. Visger, University of Florida,

unpublished data). Despite their similar morphology and genetics, we found evidence

that T. menziesii inhabits a unique climatic niche relative to that of its diploid progenitor.

One possible explanation for the niche divergence of T. menziesii compared to T.

diplomenziesii is that despite very high genetic similarity, T. menziesii may exhibit

transgressive levels of gene expression as a consequence of carrying four alleles per

locus. However, whether climatic niche divergence between the diploid and

autotetraploid was an immediate effect of polyploidy per se, a product of subsequent

evolution, or a combination of both is beyond the scope of this study and is under

Page 32: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

32

investigation. Therefore, it is important to consider our findings as representing niche

divergence following a combination of both autopolyploidy and subsequent evolution.

Selection on nascent polyploids should favor factors that facilitate escape from

MCE. That is, traits that encourage a shift in geographic space or niche space should

be subjected to strong positive selection (Levin, 1975; Fowler and Levin, 1984). While

some autopolyploids (e.g., Heuchera cylindrica; Godsoe et al., 2013) appear to have

shifted from their diploid progenitor in geography alone, it appears that T. menziesii and

T. diplomenziesii have diverged in geography, climatic regime, and abiotic preference.

The climatic niche spaces of T. menziesii and T. diplomenziesii appear to be

predominantly non-overlapping geographically (Figure 2-2), suggesting that niche

divergence has played a role in their allopatric distribution. We rejected the null

hypothesis of a highly conserved T. menziesii niche, finding instead that the two species

inhabit divergent climatic regimes. The null model of niche equivalency can potentially

be biased by geographic autocorrelation (Warren et al., 2008), and in some cases may

only indicate divergent climatic regimes. To compensate for any potential biases and/or

oversensitivity of the equivalency test, we conducted the less stringent test of niche

similarity and were unable to find support for either more or less similar niche space

between T. diplomenziesii and T. menziesii. The niche identity/equivalency test is an

extremely sensitive test, and sister taxa will most often reject the null expectation of

niche equivalence (e.g., Kalkvik et al., 2012). The similarity test is far less stringent and

rarely finds sister species to be significantly dissimilar, reflecting the tendency for the

niches of closely related species to be more similar than expected by chance (e.g.,

Burns and Strauss, 2011). However, Warren et al. (2008) argued that investigation of

Page 33: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

33

niche conservatism should be treated as a continuum, with most sister taxa falling

somewhere between equivalent and dissimilar. We stress that for autopolyploidy, which

provides no unique alleles and often results in morphologically identical progenitor-

derivative pairs, the null expectation should fall closer to equivalence than dissimilarity.

Even a slight deviation from niche equivalency following autopolyploidization may be

important for escape from MCE.

Our modeling and environmental PCA indicates that niche divergence in Tolmiea

occurs largely along an axis of precipitation, with T. diplomenziesii inhabiting regions

with lower precipitation and T. menziesii occurring under high-precipitation regimes. Our

experiment testing response to reduced water availability supports this conclusion.

There appears to be a trade-off, or adaptive crossover, at high and low soil moisture

between the two species, with T. menziesii photosynthesizing more efficiently with

respect to water loss through transpiration during times of high soil moisture, while T.

diplomenziesii makes more efficient use of water under drought conditions. Significantly,

leaf water potential did not appear to be affected by either ploidy or its interaction with

soil moisture, indicating that autopolyploidy and subsequent evolution have not altered

the regulation of leaf water potential.

Guard cell size has been repeatedly shown to be a strong correlate of genome

size (and therefore ploidy) (e.g., Beaulieu et al., 2008; Masterson, 1994). Changes in

guard cell size could alter the stomatal aperture, thereby influencing water dynamics

(Mishra, 1997; Li et al., 1996). Interestingly, we find no evidence for a change in guard

cell length, width, or area between T. diplomenziesii and T. menziesii. Although there

are a number of examples where polyploidy does increase guard cell size, this is not

Page 34: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

34

always the case (e.g., Mishra, 1997; Masterson, 1994). Had significant differences been

found between guard cells of T. diplomenziesii and T. menziesii, this would have

provided a clear explanation for the differential response to water availability observed.

A relationship between ploidy and stress tolerance, in particular drought

tolerance, has been observed (and in some cases empirically studied) in a number of

plant systems (e.g., Li et al., 1996; Hao et al., 2013; del Pozo and Ramirez-Parra,

2014). Often the higher ploidy has been found to be more suited to dry environments.

This trend has usually been attributed to the common observation that polyploids have

larger stomatal apertures but reduced stomatal densities, which presumably results in

altered transpiration rates (a component of WUE; see te Beest et al., 2012). In Tolmiea,

we find the opposite of these trends. Our study revealed that the diploid, and not the

autotetraploid, is more suited to drier habitats. One possible explanation is that unlike

most polyploids, T. menziesii does not have significantly enlarged guard cells. This

observation supports the idea that alteration of stomata size and density may be

important components of the polyploidy-induced drought tolerance that has commonly

been observed. While we did not investigate the cell size of non-stomatal cells (e.g.,

pavement cells, mesophyll cells, vessel elements), other cell size effects could certainly

play a role in the divergent WUE we observed. Ploidy has been shown to influence

xylem diameter (Pockman and Sperry, 1997), which could influence the relationship

between leaf water potential and leaf water content by requiring increased turgor

pressure to maintain a given leaf water content. In the context of our results (no

significant effect of ploidy on leaf water potential and a nearly significant effect of ploidy

on leaf water content at p = 0.07), differing xylem diameter could potentially explain the

Page 35: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

35

maintenance of similar leaf water potential under differing leaf water contents; how-

ever, this was beyond the scope of our study, but warrants further investigation.

Although we have shown evidence for climatic divergence with respect to water

availability and a differing response to drought between T. diplomenziesii and T.

menziesii, based on our measures of canopy transmittance, we found no such

differences relating to shade preference. Conservation of shade preference between

ploidal levels makes sense in light of the geographic distribution of the species. Had T.

diplomenziesii and T. menziesii diverged primarily in shade preference, we would not

expect the observed north–south allopatric distribution; rather, we might expect a more

patchy or mosaic-like distribution varying with canopy type of differing canopy

transmittance (e.g., evergreen vs. deciduous forest, mature vs. new growth forest).

However, we found that no individuals occurred under greater than 26% canopy

transmittance, suggesting that the occurrence of both species are similarly constrained

by shade availability. The ecological and physiological divergence between an

autopolyploid and its diploid progenitor may be explained by several factors. While

allopolyploid genomes may undergo fractionation (e.g., Langham et al., 2004), reducing

redundant gene copies, autotetraploids should persist with four allelic copies through

time, assuming disomic inheritance is not restored. Increased allelic dosage has been

shown to affect plant physiologic stress response, including drought stress (del Pozo

and Ramirez-Parra, 2014). Maintaining four allelic copies also has a significant

population genetic impact in the fixing/purging of beneficial/deleterious alleles, slower

rates of reaching Hardy-Weinberg equilibrium, and higher heterozygosity (Moody et al.,

1993). Even if polyploidy per se has had no immediate effect on the ploidy differences

Page 36: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

36

described here in Tolmiea, the increase in allele copy number could have major effects

on the subsequent evolution of autopolyploid populations. Furthermore, increases in cell

volume following polyploidization are typically nonlinear (e.g., 1.5-fold cell volume vs. 2-

fold nuclear material), which could influence intracellular mechanisms under

concentration-dependent control (Levin, 1983; Storchova et al., 2006). Although guard

cell sizes did not differ, it remains possible that the size of other cell types may differ

between T. diplomenziesii and T. menziesii. A combination of nucleotypic effects and

changes in gene dosage following polyploidy could underlie altered water use and/or a

shift in abiotic requirements (reviewed in Soltis et al., 2014b) and are currently being

explored in Tolmiea.

Conclusion

To determine the role of polyploidy in features that might lead to niche

divergence, additional studies leveraging resynthesized autopolyploids are necessary

(e.g., Ramsey, 2011). In some cases, autopolyploidy has resulted in instantaneous

physiological divergence, including differences in water-use efficiency (Ramsey, 2011;

del Pozo and Ramirez-Parra, 2014), while in other cases, polyploidy may merely

provide the genetic substrate for subsequent evolution (Levin, 1983). Following

autopolyploidization, a presumed combination of polyploidy and subsequent

evolutionary pressures drove T. diplomenziesii and T. menziesii to diverge in climatic

niche preference. We therefore suggest caution when interpreting results such as these

relative to the role of polyploidy per se. Our data provide a convincing example of niche

differentiation between a diploid and its autotetraploid derivative, as well as strong

rationale for subsequent studies to tease apart the relative effects of autopolyploidy and

subsequent evolution.

Page 37: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

37

Table 2-1. Population locality, ploidal level, elevation, and canopy transmittance of diploid and tetraploid Tolmiea. Population vouchers are housed in the California State University, Sacramento herbarium (SACT).

Percent Canopy Openness

Population SACT herbarium ID Ploidy Latitude Longitude Elevation (ft) Measure

1 Measure

2 Measure

3 Measure

4 Measure

5

13-1 C. Visger 13-1 2x

40.824417° -123.691833° 1175.61 14.60 21.76 15.56 11.15 11.46

13-2 C. Visger 13-2 2x

40.523617° -122.940733° 761.39 9.96 7.26 10.64 7.67 9.53

13-3 C. Visger 13-3 2x

40.374067° -123.363717° 843.99 16.19 6.11 22.37 20.44 5.97

13-4 C. Visger 13-4 2x

41.679950° -123.568150° 1356.06 na na na na na

13-5 C. Visger 13-5 2x

41.335383° -123.395200° 311.20 na na na na na

13-6 C. Visger 13-6 2x

42.111683° -123.409983° 1020.47 9.79 8.37 7.92 7.73 6.96

13-7 C. Visger 13-7 2x

43.297050° -122.908983° 269.44 14.61 5.22 6.93 6.79 na

13-8 C. Visger 13-8 2x

43.290883° -122.564800° 471.83 9.28 6.10 6.97 7.15 8.98

13-9 C. Visger 13-9 2x

43.786433° -122.549817° 388.32 7.38 8.58 7.43 6.26 7.42

13-10 C. Visger 13-10 2x

43.810600° -122.424967° 416.97 10.09 13.65 10.06 10.28 10.12

13-11 C. Visger 13-11 4x

44.070200° -122.229650° 610.51 12.41 12.26 12.56 14.85 15.79

13-12 C. Visger 13-12 4x

44.403517° -122.086183° 1053.69 25.94 22.82 10.12 7.52 12.73

13-13 C. Visger 13-13 4x

44.399867° -122.340600° 395.02 7.22 9.85 15.54 12.36 7.87

13-14 C. Visger 13-14 4x

44.602050° -121.962800° 799.49 14.02 11.08 11.13 12.01 12.37

13-15 C. Visger 13-15 4x

44.762900° -122.111133° 574.55 11.93 10.63 10.27 9.05 6.01

13-16 C. Visger 13-16 4x

45.025383° -121.955750° 630.33 12.28 9.39 10.61 10.18 8.56

Page 38: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

38

Table 2-1. Continued Percent Canopy Openness

Population SACT herbarium ID Ploidy Latitude Longitude Elevation (ft) Measure

1 Measure

2 Measure

3 Measure

4 Measure

5

13-17 C. Visger 13-17 4x

45.043333° -122.062633° 463.30 8.13 13.93 10.55 7.30 6.30

13-18 C. Visger 13-18 4x

45.303167° -121.867700° 666.29 9.32 7.93 7.34 10.02 11.27

13-19 C. Visger 13-19 4x

45.816683° -121.881433° 307.85 14.41 12.45 12.78 17.16 14.99

13-20 C. Visger 13-20 4x

46.053283° -121.971183° 389.53 8.79 6.16 5.08 5.90 5.19

13-21 C. Visger 13-21 4x

46.634950° -121.710300° 499.87 9.86 9.13 11.09 8.84 9.81

13-22 C. Visger 13-22 4x

47.158000° -121.726733° 476.71 13.08 11.44 10.74 14.10 9.62

13-23 C. Visger 13-23 4x

47.403150° -121.567733° 451.71 8.38 7.70 8.03 7.93 10.05

13-24 C. Visger 13-24 4x

47.727917° -121.406900° 298.70 11.66 9.27 8.93 7.79 8.23

13-25 C. Visger 13-25 4x

48.369033° -121.504750° 224.03 10.25 9.93 11.30 10.92 12.84

13-26 C. Visger 13-26 4x

48.902100° -121.913300° 336.80 6.01 14.75 15.79 12.32 9.51

13-27 C. Visger 13-27 4x

47.790467° -122.925450° 138.07 9.42 9.48 8.98 7.77 8.75

13-28 C. Visger 13-28 4x

45.180033° -123.817933° 70.10 16.72 11.07 11.32 10.65 9.59

13-29 C. Visger 13-29 2x

44.397867° -123.860467° 26.82 8.79 6.63 9.86 9.08 8.90

13-30 C. Visger 13-30 2x

42.825633° -124.008150° 173.74 12.13 8.89 8.17 9.67 9.55

13-31 C. Visger 13-31 2x

42.118750° -124.195900° 35.97 na na na na na

Page 39: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

39

Table 2-2. Linear mixed-effects model results for canopy transmittance and physiological response.

Response variable Effect F ratio

Prob > F

log Leaf Water Potential Ploidy 0.13 0.7311 log Leaf Water Potential log(Soil Moisture) 24.59 <0.0001 log Leaf Water Potential Ploidy*log(Soil Moisture) 3.13 0.0864 Water-use Efficiency Ploidy 0.64 0.4450 Water-use Efficiency log(Soil Moisture) 4.56 0.0372 Water-use Efficiency Ploidy*log(Soil Moisture) 4.58 0.0368

log Leaf Water Content Ploidy 2.09 0.1785 log Leaf Water Content log(Soil Moisture) 0.19 0.6651

log Leaf Water Content Ploidy*log(Soil Moisture) 3.40 0.0704 Canopy Transmittance Ploidy 1.69 0.2056 Canopy Transmittance Elevation 5.79 0.0242 Canopy Transmittance Ploidy*Elevation 0.02 0.9023

Page 40: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

40

Table 2-3. Guard cell size vs ploidy

Measurement t Ratio Prob > |t|

Guard cell length 4x vs 2x -1.01055 0.3176 Guard cell width 4x vs 2x -1.06126 0.2940 Stomatal area 4x vs 2x -1.10074 0.2771

Page 41: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

41

Figure 2-1. Sampling map of the Pacific Northwest. All data points, excluding those in green, were used for niche model generation. Circles represent data mined from herbaria, while stars represent field-collected accessions with ploidy verified by flow cytometry (FCM).

Page 42: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

42

Figure 2-2. Niche suitability across the Pacific Northwest for T. diplomenziesii (blue) and

T. menziesii (red) categorized by climatic suitability score as low (0.15–0.3), moderate (0.3–0.5), and high (> 0.5). The dashed line indicates the realized North/South range break for T. diplomenziesii and T. menziesii.

Tolmiea menziesii predicted niche suitability

Tolmiea diplomenziesii predicted niche suitability

Low

Moderate

High

Low

Moderate

High

Page 43: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

43

Figure 2-3. Observed niche overlap (red dashed line – 0.140) vs. a distribution of 100 niche overlap scores generated under the null assumption of niche equivalency (A) and similarity (T. diplomenziesii vs. T. menziesii, and T. menziesii vs. T. diplomenziesii, B and C, respectively).

0

10

20

30

40

0.00 0.25 0.50 0.75 1.00

D1.00

p = 0.267

co

unt

0

10

20

30

0.00 0.25 0.50 0.75 1.00

D

co

unt

0

10

20

30

40

0.00 0.25 0.50 0.75 1.00

D

co

unt

1.00

p = 0.376

1.00

p = 0.0198

A

B C

Page 44: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

44

Figure 2-4. Tolmiea diplomenziesii (blue) and T. menziesii (red) populations plotted against temperature-related variables (PC1) and precipitation-related variables (PC2). Ellipses represent 90% confidence.

-6 -4 -2 0 2 4

-8-6

-4-2

02

4

Principal component 1 (43.6% - Temperature-related variables)

Princip

alcom

pon

ent2

(39.2

%-

Pre

cip

ita

tion-r

ela

ted

va

riable

s)

Tolmiea diplomenziesiiTolmiea menziesii

Page 45: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

45

Figure 2-5. Log soil moisture vs. intrinsic water-use efficiency (top), log leaf water

content (middle), and log leaf water potential (bottom). Regression lines denote a significant effect on the y-axis due to log soil moisture (gray) or ploidy by soil moisture interaction (colored by species).

20

40

60

80

10

01

20

Intr

insic

wa

ter-

use

eff

icie

ncy

(A/G

s)

T. d ip lomenz ies i i

T. menziesii

1.6

1.7

1.8

1.9

log

Le

af

wate

rco

nte

nt

-2.0 -1.5 -1.0 -0.5

-0.3

-0.2

-0.1

0.0

0.1

log Soil moisture (percent volumetric water content)

log

Le

af

wate

rp

ote

ntia

l(M

pa

)

Page 46: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

46

CHAPTER 3 DIVERGENT GENE EXPRESSION LEVELS BETWEEN DIPLOID AND

AUTOTETRAPLOID TOLMIEA RELATIVE TO THE TOTAL TRANSCRIPTOME, THE CELL, AND BIOMASS

Introduction

Polyploidy (whole-genome duplication; WGD), a process now recognized to be of

major importance across many eukaryotic lineages (Van de Peer et al., 2009; Jiao et

al., 2011; Van de Peer, 2011; Jiao and Paterson, 2014), was long considered an

evolutionary dead-end by some, including several of the most prominent evolutionary

biologists of the past century (Stebbins, 1950; Wagner, 1970). However, during the last

several decades there has been a resurgence of interest, not only in the frequency of

polyploidy (Barker et al., 2015), but also in the genetic and genomic consequences of

polyploidy (e.g., Barker et al. 2016; Gaeta et al., 2007; Doyle et al., 2008; Soltis and

Soltis, 2009, 2012; Salmon et al., 2010; Greilhuber et al., 2012; Shi et al., 2012;

Madlung and Wendel, 2013; Soltis et al., 2014).

The role of polyploidy in facilitating changes in gene expression, through

expression level divergence, altered expression patterns (e.g., across tissue-types),

and/or through the generation of unique splice variants is arguably one of the most

important research topics in the field today (e.g., Liu et al., 2001; Adams et al., 2003;

Chelaifa et al., 2010; Dong and Adams, 2011; Ainouche et al., 2012; Buggs, 2012;

Rambani et al., 2014 -- see Yoo et al., 2014 for review). However, the rapid increase in

studies of patterns of gene expression in polyploids may have outpaced our

fundamental understanding of the transcriptome’s response to polyploidy per se.

Page 47: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

47

One major concern in comparing gene expression between diploids and

polyploids is that any transcriptome amplification or transcriptome-wide effects induced

following polyploidy are rarely, if ever, investigated (see Coate and Doyle, 2010, 2015).

Transcriptional amplification is a biological phenomenon where the total mRNA

produced per cell is increased up to several fold in one treatment group compared to

another, and results in unequal total transcriptome sizes (Nie et al., 2012).

Transcriptional amplification would be anticipated in a polyploid compared to a diploid

progenitor, as polyploidy globally alters gene/genome copy number and often influences

cell size; the latter change has been shown to strongly correlate with transcriptome size

(Fomina-yadlin et al., 2014).

Surprisingly, transcriptome size variation has been taken into account in a cross

ploidy comparison of gene expression divergence in only one study (Coate and Doyle,

2010). Coate and Doyle (2010) found allotetraploid G. dolicocarpa to have a total mRNA

transcriptome ~1.4 times greater than its diploid progenitors, suggesting that polyploidy

can induce a transcriptome size increase. However, without data from other polyploid

systems, the prevalence of this phenomenon remains unclear.

Recent work has shed light on some of the biases inherent to expression level

comparisons between treatment groups that differ in transcriptome size. Loven et al.

(2012) showed that inferences drawn from a typical RNAseq workflow can be

confounded when treatment groups have transcriptomes of differing size. Because

transcriptome size variation has rarely been explored, RNAseq studies involving

transcriptome amplification are likely to underestimate the proportion of the

transcriptome being differentially expressed.

Page 48: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

48

Modern methods for comparing gene expression level change across the

transcriptome rely on the detection of statistically different RNAseq read abundances at

each locus-- a differential expression analysis. RNAseq libraries are usually sequenced

to different depths by chance, resulting in library size (the total number of reads per

sample) varying across the final dataset. To prevent variation in library size from

influencing differential expression analyses, library size is typically normalized across all

samples (e.g., Mortazavi et al., 2008). Commonly used library normalization methods

quantify expression level on a concentration basis by dividing read abundance by a

factor of the whole library (e.g., transcripts per million or reads per kilobase per million)

(see Coate and Doyle, 2010, 2015; Lovén et al., 2012). Concentration-based

normalizations place gene expression in the context of expression level per

transcriptome. Using a concentration-based normalization approach to infer changes in

expression level requires that total transcriptome size does not vary between ploidal

levels. If transcriptome size varies by ploidy, then loci identified as differentially

expressed (differentially expressed genes; DEGs) are not necessarily expressed at

different levels, rather they are maintained in different concentrations relative to the

transcriptome (Figure 1A). To overcome these problems, the use of synthetic spike-in

RNA standards has been proposed (Lovén et al., 2012). These standards developed

by the External RNA Controls Consortium (Baker et al., 2005; External RNA Controls

Consortium, 2005)(Spike-in RNA standards; henceforth spike-ins) facilitate comparison

of absolute expression level across treatments with different transcriptomes sizes (see

Scott Pine et al., 2016). Spike-ins allow for normalization of transcript abundance

Page 49: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

49

independent of transcriptome size, and therefore represent a promising method for

cross ploidy comparisons.

Most polyploids exhibit cell size changes relative to their parents, which may

result in an alteration of cell density (see Stebbins, 1971; Masterson, 1994). As

discussed above, per transcriptome normalized comparisons are concentration based,

and are therefore robust to variations in cell size and density between treatments. Cell

size and density are rarely investigated prior to studying expression level change.

Conversely, normalizing by the abundance of an internal standard within a library (e.g.,

spike-ins) does not account for variation in the number of contributing cells across

treatments, and the inferred transcript abundance may be biased (Fomina-yadlin et al.,

2014). It is therefore critical to have information on cell density differences between

treatment groups when normalizing to an internal standard.

Following polyploidy, a balance of cell size and density effects, and changes in

allelic dosage could have profound effects on all facets of plant physiology. Across a

ploidal series in Atriplex confertifolia, cell density decreases with increasing ploidy

(Warner and Edwards, 1989). Despite harboring fewer cells per unit area, higher ploidal

levels of A. confertifolia are capable of higher photosynthesis per unit leaf area, due to

increased photosynthesis of tetraploid cells relative to diploid cells. Conversely, in

Medicago sativa, while tetraploid cells are also less densely aggregated than diploid

cells, photosynthesis per cell is increased in the tetraploid to yield diploid-like

photosynthetic output per unit leaf area (Warner and Edwards, 1993). In A. confertifolia

and M. sativa, cell size and density alone are not sufficient for predicting physiological

change following polyploidy. Instead, information on the interaction between cell density

Page 50: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

50

and cell efficiency is needed to fully realize the physiological impact of polyploidy. In

light of these observations, studies of expression level change following polyploidy

should routinely investigate the interaction between gene expression across a unit of

biomass and per cell.

When discussing transcript abundance between samples of differing

transcriptome sizes and/or differing cell density, a clear nomenclature is critical. We

illustrate three separate ways of defining transcript abundance when both transcriptome

size and cell density vary between treatment groups (Figure 1). When RNAseq data

are normalized without an external standard (Figure 1A), differences in abundance

observed between two treatments reflect a change in transcript concentration. We

follow Coate and Doyle (2010), and refer to this type of comparison as ‘per

transcriptome’ changes.

Differences in expression level between treatments normalized to the abundance

of spike-ins reflect changes in transcript abundance relative to the abundance of spike-

ins. When spike-ins are added in equal amounts to samples derived from equivalent

volumes of tissue then changes observed following a spike-in-based normalization

indicate transcripts differ in abundance within a given volume of tissue (Figure 1B). We

refer to this comparison as ‘per biomass’. Finally, if the spike-in abundance is scaled by

a factor equal to cell density differences, expression level changes observed will reflect

changes in transcript abundance relative to the cell (Figure 1C). We will refer to this as

a ‘per cell’ comparison using a simplified terminology (Figure 1).

Tolmiea (Saxifragaceae) was chosen for investigation of the impact of the three

measures of assessment reviewed above because: 1) it is a clear diploid (T.

Page 51: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

51

diplomenziesii) and autotetraploid (T. menziesii) system; 2) there is strong support for a

single origin of the autotetraploid (Soltis and Soltis, 1988; Soltis et al., 1989; Visger et

al., 2016). In addition, examination of expression level changes following autopolyploidy

is less problematic than similar investigations within allopolyploid systems for several

reasons. First, autopolyploidy results in a duplication of a single genome, rather than the

merger and duplication of two divergent genomes (as in allopolyploidy). Hence, a single

diploid-based mapping reference can be used for both the diploid and the

autotetraploid. Additionally, there are no homeologues to be concerned with in an

autopolyploid, which substantially reduces the potential for biased mismapping of

paralogous reads. A single origin of the polyploid is also an advantage for exploring

issues pertaining to transcriptional amplification and reduces analytical complexity. For

example, multiple, independent origins of a polyploid may have differing effects on

transcriptome size. Thus, an investigation accounting for transcriptome size biases

should start with a single origin autopolyploid system.

Here we leverage spike-in RNA standards and multiple normalization methods to

characterize for the first-time gene expression across three biological scales in a natural

system. Through this multi-scale comparison, we investigate how polyploidy has

influenced transcriptional change in gene pathway stoichiometry, cellular expression

levels, and transcript abundance across leaf organ tissue. Finally, we synthesize the

changes represented across all three scales and place our findings within the context of

ecophysiological data for Tolmiea.

Materials and Methods

Sampling

Page 52: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

52

Plants were collected from three geographically separate natural populations of

both T. diplomenziesii and T. menziesii (Figure 2). Taking advantage of the ability of

Tolmiea to reproduce via plantlet formation, each individual collected in the field was

subsequently propagated in quadruplicate in a greenhouse at the University of Florida.

The resulting plantlets were then grown to maturity under standardized conditions within

a common garden greenhouse at the University of Florida. One of four replicate plants

from two T. menziesii populations died prior to sampling.

Each of the 22 mature plants was sampled for equivalent volumes of leaf tissue

using a 8 mm diameter cork bore. The tissue was then flash frozen in liquid N2 and

stored at -80C until RNA extraction. Total RNA was extracted from this tissue using the

CTAB and Trizol method of Jordon-Thaden et al. (2015; protocol number 2) with the

addition of 20% sarkosyl. DNA was removed using a Turbo DNA-free kit (Invitrogen).

Following the manufacturer's recommendations, the total RNA was spiked with 4 ul of

1:100 diluted ERCC RNA Spike-in mix (Ambion). RNAseq libraries were then built using

the TruSeq kit (Illumina); 100bp paired-end sequencing was performed using an

Illumina HiSeq at the Beijing Genomics Institute.

Quantifying cell density

To quantify per cell changes it was necessary to account for both transcriptome

size differences and cell density differences between diploid and autotetraploid Tolmiea.

A potential source of uncertainty is our estimation of cell density differences used to

normalize our reads on a relative per cell basis. To decrease the likelihood of

misrepresenting cell density differences, we characterized cell density using both a

DNA/RNA co-extraction and cell counting as described below.

Page 53: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

53

Duplicate leaf punches from each sample that were included in the differential

expression analysis were used for co-extraction of DNA and RNA. We first followed the

Jordon-Thaden et al. (2015) method #2 with 20% sakrosyl. Following the CTAB

incubation the supernatant was split into two equal aliquots; for one aliquot we used the

Jordon-Thaden et al. (2015) method for RNA extraction, and for the other aliquot we

followed the Doyle and Doyle (1987)method for CTAB DNA extraction. DNA

concentrations were quantified with dsDNA broad-range chemicals using a Qubit (Life

Technologies). DNA concentration was placed into a 1C context by dividing by ploidal

level. The 1C DNA concentration was used to infer the relative difference in cell density

of the leaf tissue contributing to RNA extraction between T. menziesii and T.

diplomenziesii. To validate this approach, we also directly estimated cell density per unit

area. Leaf punches two cm in diameter collected from 10 diploids and 11 tetraploids

were digested in 500ul of 10% chromic acid until cells were fully dissociated (Brown and

Rickless, 1949; Ilut et al., 2012). Each individual was assayed twice, and the number of

cells in the suspension was counted twice for each assay using 10ul aliquots in a

hemocytometer. Statistical analyses of 1C DNA concentration and cell density were

performed using a linear mixed-effects model implemented in JMP (version 12; SAS

Institute, Cary, NC, USA) with individual as a random effect and ploidal level as a fixed

effect. All datasets were tested for normality using a goodness of fit test, and if

normality was rejected the data were log transformed.

Differential expression analysis

Raw reads were cleaned using CutAdapt (Martin, 2011) and Sickle (Joshi and

Fass, 2011). A Tolmiea reference transcriptome was generated from concatenated

Page 54: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

54

reads taken from all samples (with the spike-in reads removed) and in silico read

normalization was employed using Trinity)(Grabherr et al., 2011). Extremely low

expressed isoforms were removed (< 1 transcript per million), and the remaining

transcriptome was annotated using the Trinotate pipeline

(http://trinotate.sourceforge.net/). Trimmed reads for each sample were mapped to a

concatenation of the Tolmiea transcriptome with isoforms clustered together (using the

Trinity ‘gene’ option) and the publically available ERCC spike-in reference using

Bowtie2 (Langmead and Salzberg, 2012), and read counts were extracted using

eXpress (Roberts, 2013).

Read count normalization and differential expression analyses were conducted

using Limma-Voom (Ritchie et al., 2015). A per transcriptome normalization was

implemented using the total library following the removal of spike-in count data to

compute normalization factors. A per biomass normalization used only spike-in count

data to compute normalization factors. A per cell normalization used the spike-in count

data following in silico adjustment of tetraploid spike-in abundance using the difference

of diploid vs tetraploid cell density (65% -- see quantifying cell size and density methods

and results). Following each normalization, using the plotMDS function, a

multidimensional scaling plot was generated from 500 loci exhibiting the highest

expression level variation. Transcriptome size change was approximated using the sum

of normalized read counts per cell, however Limma-Voom normalizations use log-

counts which are not application to straight summation – we used the DEseq package

(Anders and Huber, 2010) to compute per cell normalized counts for this purpose only.

Next, a differential expression analysis was run using the above described

Page 55: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

55

normalization approaches, with loci identified as differentially expressed (DE) using a

0.05 p-value, 0.05 false discovery rate, and 1 log fold change (logFC) cutoff.

Differentially expressed loci were binned both broadly across the three normalization

methods, and more finely to characterize interplay between the three normalization

results using gplots (Warnes et al. 2009). Gene ontology (GO) terms were extracted

from the mapping reference’s Trinotate annotations. Each of the fine-scale bins of

DEGs were tested for functional enrichment using GOSeq (Young et al., 2010).

Results

Quantifying cell size and density

The mean diploid and tetraploid 1C DNA concentrations per leaf punch extraction

were 1.32591 +/- 0.09439 ug/ml and 0.76432 +/- 0.0619 ug/ml, respectively; these

differed significantly (p < 0.0001) (Figure 3A). The mean tetraploid 1C DNA per punch

was 57.6% of the diploid value. Following a tissue digestion, the estimated values of

mean number of cells per leaf punch in diploids and tetraploids were 412,146 +/- 38,002

and 268,958 +/- 20,522, respectively. These values also differed significantly (p =

0.0129). The tetraploids on average had 65.3% as many cells per the same area (as

determined by a leaf punch) as found in the diploids (Figure 3B).

Our two methods for charactering cell density differences both revealed similar

reductions in tetraploid cell density; tetraploids possessed ~58% and 65% of the diploid

density, based on the DNA/RNA co-extraction and cell-count results respectively. It is

reassuring that the DNA/RNA co-extraction and cell counting methods of estimating cell

density yielded similar results. The cell count-based estimates revealed a slightly

smaller difference than the extraction-based estimate (~65% vs. ~58%). One

explanation for this slight difference is that there may be ploidy specific differences in

Page 56: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

56

nucleotide extraction efficiency. We elected to normalize our per cell analysis by

applying a 0.65 factor to the per cell normalization factor of the tetraploid samples

reflecting the more conservative estimate of cell density differences—however, both

estimates of cell density reveal the same the major conclusions of this study.

Differential expression analysis

We obtained an average of 25 million reads per sample after removing low-

quality reads. The Tolmiea reference transcriptome assembly resulted in 58,046

isoforms binned within 28,467 clusters (henceforth genes) with an N50 of 1,821bp. After

read mapping, 26,816 genes had at least 5 non-zero counts and were used for

downstream differential expression analyses. A total of 15,205 genes was annotated

according to gene ontology using Trinotate.

A multidimensional scaling plot of the 500 loci with the highest expression level

variation revealed that all three normalization methods (per transcriptome, per cell, and

per biomass) performed well at clustering members from the same population with one

another (Figure 4A-C). It is also noteworthy that across the 500 most variable loci, the

diploid samples cluster by population, while the tetraploids show little population

differentiation. After summing the read counts normalized per cell for each sample, we

found that the mean tetraploid transcription per cell (henceforth transcriptome size) was

2.1 times higher than the diploid mean (Figure 5). Additionally, the total transcriptome

size per cell was highly variable, more so in the tetraploids compared the diploids

(20,815,579 and 11,799,791 normalized counts respectively). Across the three

normalization methods, the differential expression analysis found the tetraploid relative

to the diploid had 1,559 up- and 1,071 down-regulated genes per transcriptome, 1,440

Page 57: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

57

up- and 1,550 down-regulated genes per biomass, and 3,005 up- and 751 down-

regulated genes per cell (Figure 4D-F). Across the three different normalization

methods, we found 4,555 unique loci were DE under one or more methods (Figure 6).

Finer binning of the interactions between normalization methods revealed the majority

of DEGs to be either up-regulated in the tetraploid across all normalizations (1,392 –

Figure 7A) or only up-regulated per cell (1,398 Figure 7D).

Discussion

Gene expression changes following autopolyploidy

This is the first study to leverage synthetic RNA standards to characterize

expression level change per transcriptome, per biomass, and on a relative per cell basis

in a cross ploidy comparision. Through the use of a novel three normalization approach

and characterization of gene expression level change between diploid and

autotetraploid Tolmiea, we found 4,555 out of 26,816 loci were DE between ploidal

levels (~17% of the transcriptome) and found four notable trends. First, the per

transcriptome normalization, the normalization method researchers typically use,

captured the fewest DEGs and failed to detect any DEGs not found by the other two

methods. Second, most differential expression occurs on a per cell basis, and there is a

clear unbalanced distribution of up- vs down-regulation in the autotetraploid relative to

the diploid, with 3,005 up- vs. 751 down-regulated DEGs per cell. Third, in the

tetraploid, many transcripts that were up-regulated per cell appear to compensate for a

decreased cell density, resulting in a conservation of expression level per biomass

relative to the diploid (see Figure 8). Loci exhibiting conservation per biomass were

significantly enriched for functions related to photosynthesis and the chloroplast. Fourth,

we saw transcriptome size varied substantially across our dataset, and found a

Page 58: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

58

significant increase in the inferred transcriptome size of the tetraploid relative to the

diploid (Figure 5). Below we discuss each of these four trends in greater detail.

Autopolyploids have rarely been compared to their diploid progenitors with

respect to expression level divergence (e.g., Stupar et al., 2007; Del Pozo and Ramirez-

Parra, 2014; Zhang et al., 2014). These few previous diploid-autopolyploid comparisons

found that autopolyploids tend to deviate from diploid-like gene expression levels across

1-10% of the transcriptome (~6% in Paulownia fortunei – Zhang et al., 2014; ~10% in

Solanum phureja – Stupar et al., 2007; ~1-4% in Arabidopsis – Del Pozo and Ramirez-

Parra, 2014). However, none of these comparisons was normalized using spike-in

standards; instead they used what is referred to here as a per transcriptome

comparison. In fact, spike-ins have rarely been used in any evolutionary comparisons,

and have primarily been adopted for use in studies of model organisms (e.g., Fomina-

yadlin et al., 2014). Unlike the spike-in derived per biomass and per cell normalized

transcript counts, the results of per transcriptome normalizations reflect concentration

changes and are not a proxy for absolute expression. Therefore, the results of previous

autopolyploid expression studies must be interpreted as changes in transcript

concentration rather than absolute abundance.

Considering only the results of our per transcriptome normalization,

approximately 9% of the Tolmiea transcriptome was differentially expressed on a

concentration-basis. Our discovery that 9% of the Tolmiea transcriptome differs in

concentration between the diploid and autotetraploid species is in line with results for

other diploid--autopolyploid pairs mentioned above. This finding suggests that in

general, only a small fraction of the transcriptome, less than 10%, responds to

Page 59: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

59

autopolyploidization through novel alterations to transcript concentration. Despite

changes in transcript abundance per transcriptome representing less than 10% of all

loci, concentration-based changes could have important consequences regarding the

stoichiometry of gene expression pathways. Unfortunately, although Tolmiea is a good

evolutionary model it is not a genetic model; in a non-model system such as Tolmiea,

the ability to investigate specific pathways and make inferences regarding physiological

impact is severely hampered. However, it would be important for future studies to test

whether members of a given pathway respond similarly with respect to the maintenance

of transcript abundances relative to the transcriptome, cell, or biomass.

It is also notable that although ~9% of the loci examined in Tolmiea were

differentially expressed per transcriptome, none of these DEGs were uniquely

recovered only from the per transcriptome analysis. The majority of per transcriptome

DEGs (2,106 of the 2,630) were differentially expressed at a high enough magnitude to

be detected by all three normalization methods. These results suggest that the loci

typically identified as DE in previous studies of polyploid gene expression represent only

changes in expression level extreme enough to be detected through a significantly

altered concentration. Therefore, examination of more subtle expression level change

requires the use of normalization approaches that allow for quantitative comparisons of

transcript abundance.

When we compared expression level per cell, we found that between diploid and

tetraploid Tolmiea ~14% (3,756 loci) of the transcriptome was maintained in different

abundances per cell. Importantly, the direction of expression level change in the T.

menziesii relative to the diploid was extremely unbalanced. Nearly all per cell DEGs

Page 60: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

60

were up-regulated in T. menziesii (3,005 loci), with only 751 down-regulated. In

addition, 1,398 of the 3,005 per cell DEGs up-regulated in the tetraploid were unique to

the per cell normalization, and not recovered under either per transcriptome or per

biomass normalizations (Figure 7D). Taken together, it appears that most differential

expression in Tolmiea represents a pattern consistent with increased gene expression

level in the tetraploid correlating with an increase in ploidal level. This result would not

have been detected under a typical library size normalization method, as the expression

of these loci are not significantly altered in concentration relative to the whole.

The over-abundance of up-regulation per cell in the tetraploid may be serving as

a cell density compensation mechanism. In other words, there is tendency in T.

menziesii for a conservation of gene expression level per biomass through novelty at

the cellular level (henceforth per biomass conservation)(Figure 8). Approximately 1,398

loci, or 5.2% of all loci, in T. menziesii exhibit per biomass conservation (Figure 7D).

This buffering effect is achieved by what appears to be precise per cell up-regulation in

T. menziesii mirroring the cell density decrease relative to T. diplomenziesii. Fifteen

functional categories were significantly over represented among the loci exhibiting per

biomass conservation. Of these, seven were related to either the chloroplast or

photosynthesis. Whether there is selective pressure to conserve expression per

biomass is unclear, but alteration of photosynthesis either per cell or per biomass

appears to be a reoccurring theme across diploid/polyploid comparisons (e.g., Warner

and Edwards, 1993; Vyas et al., 2007; Coate et al., 2013). For example, Warner and

Edwards (1993) revealed photosynthetic conservation per biomass in M. sativa, but an

overall increase in photosynthesis per biomass following polyploidy in A. confertifolia. A

Page 61: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

61

clear trend of the effects of polyploidization on photosynthesis per biomass has yet to

emerge, and like many aspects of polyploidy, it may be lineage specific and/or require

results from additional study systems (Soltis et al., 2016).

Diploid and tetraploid Tolmiea occur under similar light regimes in nature (Visger

et al., 2016), and previously collected physiological data revealed no significant

difference in photosynthetic rate per leaf area (Visger et al., 2016)(Figure 9). In Tolmiea,

conservation of expression level per biomass may be a mechanism for the maintenance

of optimal photosynthesis per biomass, facilitating the ecological conservation of light

preference in Tolmiea. To determine if photosynthesis-related functional enrichment of

conservation per biomass is indeed a key underlying molecular mechanism for buffering

cell density as it pertains to photosynthesis, additional autopolyploid systems should be

similarly studied. Revisiting the work of Warner and Edwards (1993) using our spike-in

standard-based gene expression approach, should also show a similar conservation of

gene expression per biomass in polyploid M. sativa. Conversely, in A. confertifolia

where polyploidy increases photosynthesis per leaf area, we might expect

photosynthesis-related gene expression per cell to be increased by a factor greater than

the diploid/polyploid cell density difference (Warner and Edwards 1993).

An initial motivation for utilizing a spike-in approach to read count normalization

was to tease apart library size variation from transcriptome size differences between

diploid and tetraploid Tolmiea. We found that when normalizing read counts per cell, the

mean transcriptome size of the tetraploid is over twice that of the diploid (Figure 5).

This difference in transcriptome size should be qualified, as the variation within and

between populations is quite large, though the mean transcriptome size still significantly

Page 62: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

62

differed with ploidal level. Notably, we also observed that the variability of transcriptome

size was greater in the tetraploids. The diploid populations all exhibited a similar degree

of variation in transcriptome size, while tetraploid populations represented both the least

and greatest population level plasticity in transcriptome size (Figure 5). Excluding all

other results presented in this study, the variability of transcriptome size alone should

be motivation enough for researchers of polyploidy to adopt a spike-in based approach.

The benefits and caveats of spike-in RNA standards in biology

This study is not the first to apply synthetic RNA spike-in standards in dealing

with a transcriptome-wide effect (e.g., see Lovén et al., 2012; Fomina-yadlin et al.,

2014). However, spike-ins have rarely been used to address questions of evolution in

natural populations. This is the first study to: 1) leverage spike-in standards in a cross

ploidy comparison, and 2) quantify expression level on three different, biologically

relevant scales. By using multiple read count normalizations, with and without spikes-in

standards, we investigated the interaction of expression level per cell and per biomass

between diploid and autotetraploid Tolmiea. Had this study been performed in lieu of

spike-in standards, the results would have been limited to those of the per transcriptome

normalization.

Spike-in normalization is most valuable when evaluating gene expression level

changes between two groups that have differing cell density and/or transcriptome size.

By normalizing RNAseq count data by the abundance of spike-in standards, sequencing

depth and transcriptome size are effectively disentangled. Methods employed by

previous comparative studies of diploid/polyploid pairs were limited to quantifying

transcriptional changes on a concentration-basis only. Concentration-based

Page 63: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

63

comparisons, while useful for inferring alterations of pathway stoichiometry, are

effectively blind to large proportions of the transcriptome exhibiting an additive

expression level response to polyploidy. That is, if the expression of many genes is

increased in a single direction and is commensurate with the increase in ploidal level,

then the impact on any single gene’s concentration will be minimal. An additional

advantage of employing a spike-in normalization is that transcript abundance can be

independently quantified relative to biomass and relative to the cell. Spike-in reads can

also be removed for some downstream analyses, allowing for a typical library-size

normalization so that concentration-based changes may be characterized as well.

The three normalization approaches presented here are all individually

informative, and the decision to include any or all of them should be guided by the

research question. For example, if the research question revolves around the bulk

production of a compound, evaluating changes in expression level per biomass may be

the best approach. Research questions focusing on complex gene pathways may be

better served by an analysis of expression level per cell. Information on potential

changes in expression level stoichiometry can be gained using traditional comparisons

per transcriptome. Additionally, as demonstrated by our study of Tolmiea, the

interaction among multiple normalization approaches can be equally, or more,

informative as any single approach.

While the use of non-concentration-based normalizations can enable researchers

to address new questions, there is an important caveat that could lead to potential

biases or increased uncertainty. A primary concern is that differences in RNA extraction

efficiency between treatment groups are difficult to tease apart from variation in total

Page 64: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

64

transcriptome size. In much the same way that variation in transcriptome size

influences estimates of expression level, differences in extraction efficiency could bias

expression level calculations for per-cell and per-biomass analyses. For example, if

RNA extraction were half as efficient in one treatment group versus another, then

differential expression analyses per cell would only consider half of the actual transcript

abundance of one group relative to the other. Future approaches should consider

partially accounting for this issue through the addition of a second unique set of spike-

ins prior to RNA extraction. Comparing the ratio of pre- versus post-extraction spike-in

abundance should highlight changes in extraction efficiency. However, even the use of

a second spike-in set will not account for different extraction efficiencies if those

differences arise from variation in cell lysis.

In summary, this study has demonstrated that the use of synthetic RNA spike-in

standards can be used to explore previously uninvestigated aspects of gene expression

level divergence in a comparison of a diploid and its autotetraploid derivative. To our

knowledge, this multiple normalization approach has recovered the largest fraction of a

transcriptome as DE in a diploid/autopolyploid species pair ever reported (~17% in

Tolmiea vs. up to ~10% in several other plant systems; Stupar et al., 2007; Del Pozo

and Ramirez-Parra, 2014; Zhang et al., 2014). Further, the methodology employed

allowed for a fine scale examination of how gene expression level divergence interacts

with cell density, revealing a mosaic of change in transcript concentration, abundance

per cell, and abundance across tissue.

While we compared a diploid-autopolyploid, transcriptome size variation is rarely

investigated and could be wide spread in biological systems at diverse scales. To date,

Page 65: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

65

nearly all global gene expression studies have used normalization methods that

implicitly assume transcriptome size is invariable, yet this assumption is not empirically

supported. Examples of studies where transcriptome size variation might be likely

include (but is by no means limited to) comparisons between related species, different

developmental stages, and across stress treatments. Yet even in these cases the

potential for transcriptome size variation remains ignored and uninvestigated. If

transcriptome size is in fact invariable between two experimental treatment groups, than

following our proposed methodology, the results of the per-transcriptome and per-cell

comparisons should be identical. It is of critical importance that researchers making

comparisons using RNAseq data, particularly in the broad suite of examples noted

above, avoid making the assumption that transcriptome size is invariable and instead

employ a multiple normalization approaches, as we do here.

Page 66: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

66

Figure 3-1. A simplified example of how spike-in standards can be used during read normalization to enable comparisons of expression level at different biological scales between a hypothetical diploid-polyploid pair with differing cell density. The large circles represent a unit of biomass and contain a number of cells (green squares). Beneath each circle is a depiction of how the read normalizations are calculated. Using a per transcriptome normalized analysis, the ratio of target transcripts to the total transcriptome is compared. While per biomass normalization uses the ratio of the transcript of interest to the spike-in transcripts. The per cell normalization also uses the ratio of the transcript of interest to spike-in transcripts, but scales the spike-in transcript abundance by cell density, represented here by multiplying the spike-in abundance by the number of contributing cells. Whether the transcript of interest would be found as not differentially expressed or higher/lower expressed in the polyploid under each normalization is indicted using ‘=’, ‘<’, or ‘>’ respectively.

Non-target transcript

Transcript of interest

=Per-transcriptome normalization:DE analysis tests whether the transcript of interest ismaintained in a different abundence relative to the totaltranscriptome.

"diploid" "polyploid"

<per

per

Per-biomass normalization:DE analysis tests whether the transcript of interest ismaintained at different levels within a given biomass

<

per

÷ ÷Per-cell normalization:DE analysis tests whether a given transcript ismaintained at different levels within a cell

Spike-in standard

A

B

C

per

per

per

Page 67: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

67

Figure 3-2. Generalized distributions of Tolmiea menziesii and Tolmiea diplomenziesii. The population sources for plants used in this study are represented as red triangles (T. diplomenziesii) and blue squares (T. menziesii).

Page 68: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

68

Figure 3-3. Results of ploidy variation in leaf cell density using, A) 1C DNA

concentration following a DNA/RNA co-extraction, and B) cell counts per 2cm diameter leaf punch.

T. diplomenziesii T. menziesii T. diplomenziesii T. menziesii

0.6

0.8

1.0

1.2

1.4

1.6

1C

DN

Au

g/m

l

Estim

ate

dcells

pe

r2-c

mdia

mete

rle

afp

un

ch

2e

+0

54e

+05

6e

+0

58

e+

05A B

Page 69: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

69

Figure 3-4. Results from multiple differential expression analysis. Multi-dimensional scaling (MDS) plots A-C cluster individual based on the 500 most variable loci, with color indicating ploidal level and shape reflecting population of origin. MA plots D-F show every locus in the Tolmiea transcriptome (represented as dots), with log fold expression level change in the polyploid relative to the diploid on the y-axis and average expression level on the x-axis-- red indicates statistical significance.

-4 -2 0 2

-3-2

-10

12

3

Leading logFC dim 1

Average Log Expression Average Log Expression Average Log Expression

Lea

din

glo

gF

Cd

im2

Log

Fo

ldC

han

ge

Per transcriptome Per biomass Per cell

-4 -2 0 2

-3-2

-10

12

3Leading logFC dim 1

-4 -2 0 2

-3-2

-10

12

3

Leading logFC dim 1

A B C

Page 70: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

70

Figure 3-5. Sum of read counts normalized per cell, and clustered by population of

origin. Diploid and tetraploid mean significantly differed (p < 0.008).

Population0

1

2

3

4

5

6

7

8S

um

ofn

orm

aliz

ed

co

un

ts1e7 Total reads normalized per Cell

Tolmiea diplomenziesii

Tolmiea menziesii

Page 71: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

71

Figure 3-6. Venn diagram contrasting the three normalization methods. Numbers within

the different sections indicate loci that were identified as being differentially expressed between Tolmiea menziesii and T. diplomenziesii.

Per Cell

1,398

Per Biomass

442

167

85

357

2,106

Per Transcriptome

0

n = 4,555

Differentially expressed genes by normalization method

Page 72: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

72

Figure 3-7. Loci binned by their DE categorization across the three normalization approaches. The number of loci belonging to each bin and the results of GO enrichment analyses are reported below the corresponding bin. Bins containing no loci are not shown.

PerTr

ansc

ripto

me

PerCel

l

PerBiom

ass

Up-regulated in 4x

Not DE

Down-regulated in 4x

Per

Tran

scrip

tom

e

Per

Cel

l

Per

Biom

ass

Number/Proportion of loci:Signific

a

ntly enriched GO categories

Number/Proportion of loci:Signific

a

ntly enriched GO categories1,392/5.19%: None

714/2.66%: None 37/0.138%: None 442/1.65%: None

167/0.623%: None 48/0.179%: None

A B C D

E F G HUp-regulated in 4x

Not DE

Down-regulated in 4x

1,398/5.21%: Photosystem I, Photosynthesis,light harvesting, Chlorophyll binding, Protein-chromophore linkage, Photosystem II, Auxinpolar transport, Protein xylosyltransferaseactivity, Chloroplast thylakoid membrane,Anthocyanin accumulation in tissues, Auxin-activated signaling pathway, Lateral rootformation, Positive gravitropism, Auxin influxtransmembrane transporter, Chondroitinsulfate biosynthetic, Chloroplast thylakoid

357/1.33%: Drug transmembrane transportactivity, Hydrogen ion transmembranetransport, Proanthocyanidin biosyntheticprocess, Solute: proton antiporter activity,Maintenance of seed dormancy

Page 73: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

73

Figure 3-8. A simplified example of two observed interactions between expression level and cell density. Conservation of gene expression per biomass occurs when expression level per cell in samples with lower cell density is up-regulated enough to yield equivalent levels of transcript per unit biomass.

per10x

per

per10x

per

Conservation of gene expression level per biomass(per biomass conservation)

"diploid" "polyploid"TranscriptCellLeaf punch

Page 74: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

74

Figure 3-9. Adapted from data collected from Visger et al. 2016. Tolmiea diplomenziesii and T. menziesii did not significantly differ in photosynthetic output under common garden conditions in the greenhouses of University of Florida.

Tolmiea diplomenziesii Tolmiea menziesii

24

68

10

Photosynthetic rate

µm

olC

O2

m-2

s-1

Page 75: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

75

CHAPTER 4 DIFFERENTIAL DROUGHT RESPONSE AND TRANSCRIPTOME SIZE PLASTICITY

BETWEEN DIPLOID AND AUTOPOLYPLOID TOLMIEA

Introduction

Water availability is one of the most critical abiotic factors in determining habitat

suitability for terrestrial green plants, as water is essential for a variety of important

physiological functions (e.g., Sack and Holbrook, 2006). Drought conditions can

severely impact non-arid-adapted plants, with effects including, but not limited to,

inducement of stomatal closure (Cornic, 2000; Tombesi et al., 2015), impairment of

photosynthesis (Flexas and Medrano, 2002), accumulation of harmful reactive oxygen

species (ROS) (Farooq et al., 2009; Jubany-Marí et al., 2010), and ultimately death. In

addition to the importance of water availability for determining habitat range and

suitability for naturally occuring plant populations, the need for sufficient water for crops

can lead to trade-offs between economic and environmental impacts (Pimentel et al.,

2004). Within the next 30-90 years, climate change is expected to drastically alter the

frequency and degree of drought conditions on a global scale (Dai, 2012). Therefore,

understanding how different groups of plants respond to decreased water availability

could help predict future impacts on patterns of biodiversity response to climate change,

as well as mitigate some of the environmental costs associated with agriculture.

Whole-genome duplication (WGD; polyploidy) involves the addition of one or

more complete sets of chromosomes to an organism’s normal genetic composition.

Some major lineages appear to be more tolerant of WGD than others, and have

evolutionary histories in which polyploidy has played a major evolutionary role. These

lineages include vertebrates (e.g., Braasch and Postlethwait, 2012; Cañestro, 2012),

fungi (Hudson and Conant, 2012), ciliates (Aury et al., 2006), and, most notably,

Page 76: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

76

flowering plants, which seemingly thrive following WGD, as evidenced by the numerous

polyploidization events that have been identified throughout the angiosperm tree of life

(e.g., Cui et al., 2006; Soltis et al., 2009; Van de Peer et al., 2009; Jiao et al., 2011,

2012; Van de Peer, 2011; Amborella Genome Project, 2014).

The physiological effects of polyploidy can be dramatic, but the specific impacts

are often varied and unpredictable (see Soltis et al., 2014, 2016). In some cases,

polyploidy yields immediate changes in physiology; for example, some polyploids exhibit

a divergent response to changing water availability (e.g., Senock et al., 1991; Hao et al.,

2013). While far from universal, increased stomatal guard cell length is often considered

a diagnostic trait of polyploids (Masterson, 1994; Hodgson et al., 2010). From a

physiological perspective, larger stomatal components can alter water-use efficiency as

a result of either a larger opening or an alteration of the boundary layer dynamics; this

increase in size can be buffered, however, by an accompanying decrease in stomatal

density (Mishra, 1997; Beaulieu et al., 2008).

In addition to stomatal guard cells, other cells, including in the mesophyll

(Sugiyama, 2005), can also be affected following WGD. Vessel architecture can also be

altered by polyploidy and this would in turn influence the incidence of vessel embolisms,

leaf water potential, and other hydraulic characters (Sack and Frole, 2006). However,

few studies have investigated the underlying transcriptional effect of polyploidy and how

it influences drought tolerance (e.g., Del Pozo and Ramirez-Parra, 2014).

WGD spans a continuum from within species (autopolyploidy) to between

species (allopolyploidy). Despite allopolyploidy and autopolyploidy occurring with near

parity in Angiosperms (Barker et al., 2016), nearly all of the recent genetic and genomic

Page 77: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

77

insights have been obtained from allopolyploid systems—as a result, we have learned a

great deal about allopolyploidy, but we still know very little about the genomic

consequences and evolutionary impact of autopolyploidy (e.g., Soltis et al., 2007, 2010;

Doyle et al., 2008; Parisod et al., 2010). While allopolyploidy is without doubt the more

heavily studied form of polyploidy, it is exceedingly difficult to tease apart the effects of

polyploidy per se from the effects of hybridization, and very few studies have done this

successfully (e.g., Chelaifa et al., 2010). Autopolyploidy results in additional alleles for

every gene within the genome and is characterized by random pairing of homologous

chromosomes, typically forming multivalent arrangements at meiosis (reviewed in Tate

et al., 2005). Random chromosome pairing leads to polysomic inheritance (rather than

the disomic inheritance typical of diploids and allopolyploids), which not only represents

a method to distinguish between allopolyploids and autopolyploids but also has major

evolutionary implications.

Allopolyploids may ultimately undergo fractionation, diploidization, and loss of

extra gene copies. However, assuming polysomic inheritance remains in place, an

autotetraploid will retain four alleles per locus through time and not experience

fractionation – in other words, autopolyploidy should produce longer-lasting dosage

effects than allopolyploidy. Biochemical pathways can respond to an increase in allelic

dosage in several ways: dosage compensation (total expression level similar to that of

the diploid parent), strict additivity (double the diploid expression level), total expression

between compensated and additive extremes, an inverse relationship with the

autotetraploid displaying lower expression, or an expression level intermediate to these

extremes. For example, gene expression across 13 loci in synthetic autotetraploids of

Page 78: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

78

maize ranged from 0.5 to 1.5 times those of diploid levels (Yao et al., 2011). In contrast,

three regulatory cell cycle genes in synthetic autotetraploid Arabidopsis thaliana all

displayed a strict doubling of expression relative to the diploid progenitor, suggesting a

link between gene function and dosage regulation (Li et al., 2012). Restoration to

diploid-like expression levels has often been observed in the few studies conducted on

synthetic autotetraploids (e.g., Zea mays; Guo et al., 1996), whereas a change in

expression level, as with these cell cycle genes, seems to vary across systems from

~10% of investigated loci in autopolyploid Solanum tuberosum (Stupar et al., 2007) to

~75% in allopolyploid Zea mays (Riddle et al., 2010), though expression changes

appear to rarely exceed a 2-fold difference (Birchler et al., 2003). The resulting

alterations in levels of gene product could have profound impacts on polyploid

physiology and ecology.

Immediately following WGD, allele copy numbers should scale linearly (e.g., 2-

fold nuclear material), while increases in cell volume following WGD do not (e.g., 1.5-

fold cell volume increase); an altered ratio of nuclear material to cell volume could

influence intracellular functions under concentration-dependent control (Levin, 1983;

Storchová et al., 2006). A combination of cell size effects and changes in gene dosage

following polyploidy may have serious implications for stress response. For example,

mRNA flow from the nucleus to the cytosol could be influenced by an alteration of

nuclear pore density (see Levin 1983). The implications of stress response differences

across ploidal levels are three-fold, with changes potentially occurring per

transcriptome, per cell, and per unit biomass (see Chapter 3). Each different scale at

which gene expression level might diverge could have impacts on drought response

Page 79: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

79

physiology. The concentration-based changes uncovered through a per-transcriptome

comparison can alter the stoichiometry of gene pathways. Per-cell and per-biomass

comparisons reflect changes in the abundance of transcripts, which could influence

intracellular and intercellular stress response signaling.

The angiosperm genus Tolmiea (Saxifragaceae), comprising only two species, a

diploid (T. diplomenziesii) and its autotetraploid derivative (T. menziesii), has long been

recognized as one of the clearest examples of autopolyploidy in nature (Soltis and

Soltis, 1988). Furthermore, the autotetraploid appears to have originated only a single

time (Soltis et al., 1989). Recently, Tolmiea has been treated as an emerging

evolutionary model for the study of autopolyploidy in natural systems (Visger et al.,

2016; Visger et al., submitted). Differences in water-use efficiency and water availability

have been implicated as key components in the niche divergence exhibited by T.

menziesii and T. diplomenziesii (Visger et al., 2016). Transcriptomic investigations

demonstrated that T. menziesii transcribes over 20% of its genes differentially relative to

T. diplomenzii (Visger et al., submitted). However, previous transcriptomic work on

Tolmiea was a general exploration of gene expression level response to polyploidy and

did not incorporate a physiological stress component. These prior ecological and

physiological investigations, combined with the clear autopolyploid natur, and single

origin of autotetraploid in Tolmiea make it an ideal natural system in which to study the

impact of WGD on the molecular response to drought stress.

Here we investigate the transcriptomic basis of the ecophysiolgical divergence in

drought response between diploid and polyploid Tolmiea. Using polyethylene glycol

(PEG)-treated hydroponic cultures, we subjected T. diplomenziesii and T. menziesii to

Page 80: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

80

negative osmotic potential, inducing extreme drought stress. We then compared gene

expression over time in response to our treatment and determine the gene functions

most likely to contribute to the physiological differences between T. diplomenziesii and

T. menziesii. Using recently developed methods, we accounted for variation in

transcriptome size and cell size/density, enabling our comparisons of gene expression

to take place in the context of change per cell, per biomass, and per transcriptome (see

Coate and Doyle, 2010, 2015; Lovén et al., 2012; Visger et al., submitted).

Materials and Methods

An assembly-free Tolmiea reference transcriptome was generated using single-

molecule transcript sequencing via PacBio (Pacific Bioscience, Menlo Park, CA,

USA)(Isoform sequencing; IsoSeq). Total RNA was extracted from a diploid individual

using the CTAB and Trizol method detailed below (Jordon-Thaden et al., 2015), and

DNA was removed using a Turbo DNA-free kit (Invitrogen, Carlsbad, CA, USA). Three

size selections were performed using SageELF on the total RNA, yielding bins of

transcripts ~0.8-1 kb, ~1-2 kb, and ~2-5 kb in length. Each size fraction was sequenced

using 2 SMRT cells on a PacBio instrument at the University of Florida Interdisciplinary

Center for Biotechnology (UF ICBR). Full-length transcript sequences were obtained

using the ToFu pipeline described by Gordon et al. (2015). Briefly, the classify function

was implemented through SMRT Analysis software (Pacific BioScience), which uses

information on adapter location in raw reads to generate circular consensus sequences

(CCS). Only CCS representing full-length transcripts were retained, using the presence

of the 5’ primer and a polyA tail followed by the 3’ primer as the criteria for determining

full-length. Next, full-length CCS derived from the same isoform were clustered and

error-corrected using ICE and Quiver, also implemented through the SMRT Analysis

Page 81: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

81

software (Pacific BioScience). The resulting set of sequences was annotated with

Trinotate (http://trinotate.sourceforge.net/) and used downstream as the reference

transcriptome.

Tolmiea can reproduce vegetatively via plantlets. Four diploid and four tetraploid

plantlets were cultivated hydroponically for four months on Leca clay pellets in a 50%

Hoagland’s no. 2 basal salt solution (Sigma-Aldrich, St. Louis, MO, USA). To reduce the

likelihood of local adaptation confounding polyploidy-based inferences, but at a potential

cost of detecting small changes in expression level, both the diploid and tetraploid

plantlets were derived from two distinct well-separated populations each. Following the

methods of Liu et al. (2015), a drought response was induced in the plantlets through

the addition of PEG 6000 to the hydroponic solution (20% g/mL – resulting in

approximately -0.6 Mpa water stress). Leaf samples were collected from all eight plants

prior to the addition PEG 6000 (Day 0), and 24 hours (Day 1) and 48 hours (Day 2) after

PEG 6000 was added. Leaf tissue from each plant was sampled with an 8-mm-

diameter cork borer. The sample was flash frozen in liquid N2 and stored at -80 C prior

to RNA extraction. The CTAB and Trizol method of Jordon-Thaden et al. (2015; protocol

number 2) with the addition of 20% sarkosyl was used to extract total RNA, and a Turbo

DNA-free kit (Invitrogen) was used to remove DNA. The total RNA was spiked with 4 ul

of 1:100 diluted ERCC RNA Spike-in mix (Ambion), following the manufacturer's

recommendations. RNAseq libraries were constructed with dual-index barcodes by

RAPiD Genomics (Gainesville, FL, USA), and the libraries were pooled and sequenced

across four runs of 1x75-bp Illumina NextSeq at the UF ICBR.

Page 82: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

82

CutAdapt (Martin, 2011) and Sickle (Joshi and Fass, 2011) were used to clean

raw reads, and the cleaned reads were mapped to both the Tolmiea reference

transcriptome and the publically available ERCC spike-in reference using Salmon (Patro

et al., 2015). Read count normalization followed the three-normalization approach

proposed by Visger et al. (submitted), which was implemented using Limma-Voom

(Ritchie et al., 2015). In short, ERCC spike-in read abundances were leveraged to

normalize transcript counts per transcriptome, per biomass, and per cell (see Visger et

al., submitted). A multidimensional scaling (MDS) plot was generated from the 500 loci

exhibiting the most variation across the dataset using the plotMDS function in Limma-

Voom (Ritchie et al., 2015). Differential expression analyses of gene expression

response through time were conducted on each of the three normalized count datasets

using maSigPro (Conesa et al., 2006) using a general linear model with a negative

binomial family and a theta parameter of 10. Only loci with a minimum of at least 5

counts in at least 3 samples were analyzed. Genes exhibiting significantly different

responses between ploidal levels across the 3-day drought treatment were identified

(using a p < 0.05 and r2 > 0.6 cutoff) and subsequently grouped by response similarity

into six clusters using hierarchical clustering. The results of each differential expression

dataset, as well as each individual cluster of DEGs, were tested for functional

enrichment based on Gene Ontology (GO) assignments using GOseq (Young et al.,

2010).

We used ecological modeling to assess the impact of global climate change on

the future range of T. menziesii and T. diplomenziesii. Using MaxEnt (ver. 3.3.3k;

Phillips et al., 2004, 2006), we generated ecological niche models for T. diplomenziesii

Page 83: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

83

and T. menziesii using occurrence data and bioclimatic layers from Visger et al. (2016).

The ecological models were projected onto the predicted climate of the Pacific

Northwest under the CCSM4 rcp85 model of climate change for the year 2070.

Results

IsoSeq of the three size factors, 0.8-1 kb, 1-2 kb, and 2-5 kb, yielded 112,679,

83,615, and 26,467 full-length non-chimeric reads, respectively. The full-length reads

were clustered into 37,236 unique isoforms, with an N50 of 1,793. In total, 23,312

isoforms were successfully annotated for GO using Trinotate

(http://trinotate.sourceforge.net/).

The diploid and autotetraploid Tolmiea plantlets appeared to grow equally well in

the hydroponic solution. Neither species grew more quickly nor resulted in noticeably

larger plants than the other. After 48 hours of 20% PEG 6000 treatment, all diploid and

tetraploid plants were visibly wilted, indicating the treatment induced drought stress.

Following RNA extraction, library prep, and low-quality read filtering, RNA-seq

yielded an average of 44.9 (ranging from 24.1 to 102.0) million reads per sample.

However, the tetraploid individual 25b2 sample taken 24 hours post-drought failed to

sequence properly and was removed from subsequent analyses. On average, 88.3%

and 89.9% of reads per diploid and tetraploid sample, respectively, were successfully

mapped to the reference transcriptome. After removing transcripts without a minimum of

five counts in three individuals, we retained 25,037, 25,967, and 27,035 in our per-

transcriptome, per-biomass, and per-cell comparisons, respectively. The total

transcriptome size was calculated as the sum of transcriptome normalized per cell

(Figure 1 - plotted using the Python package SciPy - Oliphant, 2007). In total, the three-

normalization approach uncovered 2,495 transcripts, approximately 9.3% of the

Page 84: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

84

transcriptome, that responded differently to drought over time in diploid vs. tetraploid

Tolmiea. Consistent with the expectations of a single-origin autopolyploid, the MDS plot

(Figure 4-2) shows that tetraploid gene expression does not appear to have a

population effect, while the diploids were grouped by population membership. The per-

transcriptome comparison found that the concentration of 568 transcripts showed a

significantly differential drought response (DDR) over time in the diploid relative to the

tetraploid. These 568 per-transcriptome DDR transcripts were clustered into 6

response profiles (Figure 4-3). Between diploid and tetraploid Tolmiea, the per-biomass

comparison found that 1092 transcripts varied in their abundance per unit biomass in

response to drought over time. The 1092 per-biomass DDR transcripts were clustered

into 6 response profiles (Figure 4-4). Using the per-cell comparison, we found that 2170

transcripts displayed a differential change in transcript abundance per cell over time in

the diploid vs. tetraploid. The 2170 per-cell DDR transcripts were grouped into 5

response profiles due to 2 of the original 6 profiles (cluster 4 and cluster 5) exhibiting a

highly similar profile (Figure 4-5). After comparing the overlap between the three

normalization methods (Figure 4-6), we found 122, 148, and 1191 DDR transcripts

unique to the per-transcriptome, per-biomass, and per-cell comparisons, respectively.

We recovered 301 DDR transcripts across all comparisons, 588 were identified per

biomass and per cell, 55 per biomass and per transcriptome, and 90 per transcriptome

and per cell.

GO enrichment analyses revealed that certain response profiles across the three

normalization datasets were more likely than expected by chance to contain transcripts

associated with specific functions (see Figures 4-3, 4-4, 4-5). After 24 hours of drought

Page 85: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

85

stress, gene functions associated with metal ion binding exhibited an increased

abundance per unit biomass in the tetraploid relative to the diploid (Figure 4-4; cluster

6). However, transcripts associated with tetrapyrrole biosynthesis and metabolism were

found to be initially more abundant per unit biomass in tetraploids, but this decreased

after 48 hours of drought treatment until abundance was near-parity between the two

ploidal levels (Figure 4-4; cluster 4). From the cellular perspective, transcripts inferred

to be involved in organic acid and carboxylic acid transport continually increased in

abundance in the tetraploid vs. the diploid over the duration of the drought treatment

(Figure 4-5; cluster 3). After the first 24 hours of drought, there was also a significant

enrichment of gene expression for metal ion binding, ADP binding, and salt stress

genes that were up-regulated per cell in the tetraploid, before dropping back to diploid-

like levels at the 48-hour mark (Figure 4-5; cluster 4+5).

Discussion

The climate is rapidly changing on a global scale, and given their lack of mobility,

plants in many locations are poised to experience novel abiotic stresses (Dai, 2012).

Tolmiea diplomenziesii and T. menziesii are both shade-loving plants that are restricted

to moist understory habitat (Baldwin et al., 2012; Visger et al., 2016), so we know little

about how these plants respond to drought conditions. Our goal here was to understand

the transcriptional response of Tolmiea to severe drought stress over time, and how that

response differs between the autotetraploid T. menziesii and its diploid progenitor T.

diplomenziesii.

Approximately 9.2% of all loci investigated were differentially responsive to

drought with respect to ploidal level in Tolmiea. Regulatory genes responsive to stress

response pathways are complex, often initiating substantial changes to global gene

Page 86: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

86

expression patterns. Abscisic acid (ABA), for example, is a well-documented signaling

hormone for drought response and can initiate a cascade of transcriptional change

across large swaths of the genome (reviewed in Wasilewska et al., 2008). During

drought stress in Triticum, ~48% of genes were differentially expressed in response to

increased stress-response hormone expression (Way et al., 2005). Based on these

findings in Triticum, abiotic stress treatments appear to induce shifts gene expression

across large portions of the transcriptome, which can influence the total transcriptome

size (the sum of transcription per cell). It is therefore critical that comparisons between

drought and non-drought treatments, even studies not involving ploidy comparisions,

avoid the classic assumption of equivalent transcriptome size, and instead implement

more recently developed methods that are independent of transcriptome size (Lovén et

al., 2012; Visger et al., submitted). In this study, we leverage newly developed methods,

and for the first time, simultaneously characterize drought-induced gene expression

divergence per transcriptome, per cell, and per biomass (Visger et al., submitted).

Below we discuss the major findings of these various analyses.

Variation in the transcriptomic response to drought stress

The tetraploid T. menziesii and the diploid T. diplomenziesii show a striking

difference in total transcriptome size throughout the drought stress treatment (Figure 4-

1). The diploid individuals show small differences in total transcriptome size, and those

change slightly in response to drought. However, the tetraploid individuals exhibit an

extreme degree of transcriptome size variability both between individuals and across

individual drought responses. The tetraploid individuals, either through higher allelic

dosage, higher heterozygosity, or a yet-unknown consequence of autopolyploidy,

appear more variable in transcriptome size than their diploid progenitors. It cannot be

Page 87: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

87

overstated that transcriptome size, across nearly all RNAseq studies, is normalized in a

way that assumes it to be invariable. Without the use of a spike-in-based methodology

such as the one we employed, these significant differences in total transcription

between the diploid and polyploid would have been ‘normalized’ out (see Loven et al.,

2012; Visger et al., submitted).

Within the principal component space of the 500 most variable loci, we found that

the diploid Tolmiea individuals all exhibited a similar magnitude of expression-level

response to drought at both the 24- and 48-hour marks (Figure 4-2), while tetraploid

individuals exhibited much greater variance in the magnitude of drought response, with

some individuals changing very little over 48 hours and others changing far more than

any of the diploids. Additionally, the gene expression of diploid individuals grouped by

population, while the tetraploids showed no population grouping. The absence of

grouping by population in the tetraploids is congruent with the hypothesis that they

arose from a single diploid population in the past (Soltis et al., 1989). However,

following an extreme bottleneck, such as originating from a single diploid population,

there is an expectation of reduced genetic, and thereby transcriptional variation, but

here the opposite is observed. One explanation is that autopolyploidy itself may

increase the plasticity of gene expression level. Diploids can harbor at most two alleles

per locus, while autotetraploids maintain four, and transcribing from four rather than two

alleles could provide a source of additional expression-level variability. In addition to

allelic dosage, autotetraploidy in Tolmiea was shown to increase heterozygosity, which

likely also contributes to the increased variability observed in this study (Soltis and

Rieseberg, 1986; Soltis and Soltis, 1989; Moody et al., 1993).

Page 88: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

88

Differential drought response (DDR)

The three different measures of DDR (Figures 4-3,4-4,4-5) show that some

clusters of genes (i.e., a group of genes that share a similar 2x vs. 4x differential

response profile) are more drought responsive in the diploid vs. the tetraploid.

However, none of the DDR clusters exhibiting a greater diploid response contained an

over-representation of any specific functional ontologies – implying that these clusters

are composed of genes drawn from across the transcriptome at random. This does not

suggest that there are no important drought-related genes in the more diploid

responsive clusters, because there could be, but that level of gene specificity is not yet

tractable in this study system. Instead, we focus on broad patterns of gene functions

associated with drought response. We observed a statistically significant

overabundance of some functional groups, both from a stoichiometric perspective

(Figure 4-3; cluster 3 and 6) and an abundance perspective (Figure 4-4; cluster 4 and 6,

Figure 4-5; cluster 3 and 4+5). Many of the enriched functional categories have been

previously documented as playing important roles in abiotic stress response. Some of

these functional groups, including processes related to ubiquitination, have been shown

to respond to drought via up-regulation (Stone, 2014). Other functional groups

identified here are typically down-regulated in response to drought, including ATP

synthase coupling factors and prenyltransferases (Tezara et al., 1999; Zhang et al.,

2008). The response directions of still other functional groups are context-dependent,

including oxidases responsible for maintaining redox homeostasis where the direction of

response is necessitated by the direction of redox imbalance. Below we discuss some

specific enriched functional groups and their possible implications for drought response

differences in Tolmiea.

Page 89: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

89

Drought response pathways are typically categorized as abscisic acid-dependent

or abscisic acid-independent. In this study we find no enrichments of gene functional

categories associated with abscisic acid response (e.g., GO:0009737 – response to

abscisic acid, or more broadly GO:0009725 – response to hormone), indicating that the

drought expression response differences between T. diplomenziesii and T. menziesii

may be driven by other, non-ABA dependent mechanisms. It may be that diploid and

tetraploid Tolmiea do not differ in sensitivity to changing ABA concentration, or perhaps

they are differentially sensitive to ABA, but maintain different concentrations of the

hormone, which could be further complicated by cell size/density differences (see

Visger et al., submitted). ABA can also be accumulated by a decreased rate of ABA

degradation, which would not be detected using an RNAseq-based approach.

Unpublished and preliminary work by Visger and Patel attempted to identify if ABA

sensitivity differs between diploid and tetraploid Tolmiea by applying ABA in varying

concentrations (0, 1, 10, 100um) to leaf tissue and observing stomatal closure.

However, no concentration of ABA was found sufficient to induce stomatal closure in

either ploidy of Tolmiea. This might imply that either the abscisic acid was unable to

penetrate the cuticle, although our method of delivery has been effective in other

angiosperm systems (e.g., Franks and Farquhar, 2001), or that Tolmiea, a shade-loving

understory plant, has lost or greatly reduced its stomatal closure response to ABA. Zinc-

binding has previously been shown to be down-regulated in response to ABA, but here

neither species of Tolmiea decreased the expression of zinc-binding-related genes

relative to pre-drought conditions (Zschiesche et al., 2015). Instead, we observed that

both species increased the expression of the zinc-binding GO category 24 hours post-

Page 90: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

90

drought (Figure 4-5; cluster 4 and 5). The pattern of temporary increases in zinc

binding in response to drought is inconsistent with the expectations of ABA response,

lending further support to the idea that drought response differences in Tolmiea may be

ABA-independent. Additional and more rigorous work is required to tease apart

potential methodological insufficiencies of ABA application from physiological

interpretation.

Reactive oxygen species (ROS) are produced when plants are subjected to

abiotic stressors, including drought, and they have been shown to serve as important

signalers of abiotic stress (Jones, 2006; Foyer and Noctor, 2009; Choudhury et al.,

2013), with bursts of ROS production within the apoplast (an ROS signaling wave)

serving as a mechanism for intercellular stress signaling (see Mittler et al., 2011; Mittler

and Blumwald, 2015). Amine oxidase has been implicated as one of the major sources

of H2O2 production in the apoplast, and H2O2 has been shown to be one of the primary

intercellular ROS-based stress-signaling molecules (see Bolwell et al., 2002; Slesak et

al., 2007). Interestingly, in our experiment the DDR profile exhibiting a ‘burst’ in

expression level per cell during the first day of drought (Figure 4-5; cluster 4 and 5) is

enriched for amine oxidase activity. We see this spike in amine oxidase activity in both

the diploids and tetraploids, indicating that they respond similarly to drought stress,

although both the absolute abundance and the magnitude of change are greater in the

tetraploids. Given the difference in cell size and density between ploidal levels in

Tolmiea, intercellular signaling mechanisms driven by per-cell expression changes

could be altered quite significantly.

Page 91: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

91

The tetraploid with its higher amine oxidase expression per cell, and less dense

cells, might create a stronger ROS signaling wave, which would be more disruptive to

the redox balance than experienced by the diploid. One method of restoring redox

homeostasis is through the reduction of photosynthesis, a key producer of ROS (e.g.,

see Tripathy and Oelmüller, 2012), which unless scavenged can cause oxidative

damage. The per-cell photosynthetic output is inferred to be higher in the tetraploid (see

Chapter 2 and Chapter 3), and could drive both higher ROS production and elimination.

ROS homeostasis has been shown to differ by ploidal level, which plays a role in

differential drought response between diploid and autotetraploid Arabidopsis thaliana

(Del Pozo and Ramirez-Parra, 2014). The redox homeostasis resulting from higher

ROS production would be more susceptible to disruption by the increased ROS

production in response to drought stress.

Gene expression related to both general redox, including oxidoreductases and

coproporphyrinogen oxidases, as well as photosynthesis-related redox, is altered

substantially more in T. menziesii relative to T. diplomenziesii. Specifically, genes

associated with tetrapyrrole production, an important precursor of chlorophyll, are

reduced over time both per transcriptome and per biomass (Figure 4-3; cluster 3, Figure

4-4; cluster 4). Decreased chlorophyll production should result in lower photosynthesis

per cell, and a decrease in photosynthesis-generated ROS (photo-oxidation).

Additionally, the expression of genes related to the ATP synthase coupling factor F is

decreased much more in the tetraploid than in the diploid (Figure 4-3; cluster 3), which

has been shown to be a mechanism for avoiding photo-oxidative stress (Tezara et al.,

1999). Together these results suggest that tetraploid cells produce a larger ROS

Page 92: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

92

signaling wave in response to drought, disrupting redox homeostasis, prompting altered

gene expression of general redox pathways, as well as a specific reduction in

photosynthesis to limit ROS generation due to photo-oxidation.

Caveats and conclusions

An initially striking result of this study, showing transcriptional response to

drought, is its potential incongruence with previous results that suggested that T.

diplomenziesii is more drought-adapted than T. menziesii (Visger et al. 2016). That

previous work only found physiological differences in water-use efficiency across a

drought gradient, suggesting that the diploids may be better photosynthesizers during

long-term drought. However, the study presented here is limited to characterizing the

short-term response to extreme drought stress. Our results suggest that the tetraploids

may reduce their photosynthetic machinery in response to drought, which does not

conflict with the tetraploids’ lower photosynthetic water-use efficiency previously

observed relative to the diploid (Visger et al., 2016). Therefore, the results discussed

above should be considered as an addition to our current understanding of how drought

stress differentially impacts T. diplomenziesii and T. menziesii rather than a conflict.

It is also important to consider that this study is focused solely on the

transcriptional response to drought stress. It is possible that the increased

transcriptional drought response observed here is not being faithfully translated, nor can

it be assumed that the rate of translation is similar between ploidal levels. An almost

entirely overlooked step in the path from the genotype to phenotype change in

polyploids is the translation of mRNA to protein. The mRNA under active translation, the

translatome, serves as a middleman between the transcriptome and the proteome.

Genes that are up-regulated at the transcript level in the autopolyploid could go through

Page 93: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

93

a bottleneck of sorts with respect to ribosome recruitment during translation, resulting in

non-differentially expressed protein. Translation is also not the last step on the path

from DNA to protein; and therefore, this same consideration can be applied to post-

translational modifications as well.

Finally, the plants used in this study represent a limited set of field-collected lines

that have been maintained within a common garden greenhouse at the University of

Florida for several years. Despite the use of a greenhouse, the climate of Florida is

quite different from that of the Pacific Northwest (PNW) where Tolmiea occurs naturally.

Accumulation of systemic stress tolerance in plants is an emerging field of research,

and findings suggest that plants exposed to repeated stressors develop a

tolerance(e.g., Mittler and Blumwald, 2015). No matter how carefully controlled the

environment, it is possible that the long-term exposure to differences in humidity and

temperature in our greenhouse relative to the PNW could alter the drought stress

response in this study.

In conclusion, we find that the tetraploid T. menziesii shows a much more

variable gene expression level response to drought than T. diplomenziesii, both at the

population level, as well as temporally. It is perhaps this higher degree of variability that

has enabled T. menziesii to inhabit a broader range relative to its diploid progenitor, and

our niche modeling predicts this disparity to increase in the future as the global

temperature change. Either due to post-transcriptional regulation, accumulated stress

tolerance, or a reduction in ABA sensitivity, we found no evidence for changes in ABA-

mediated gene expression responses to drought stress in Tolmiea. However, we did

find a number of gene functions differentially responsive to drought stress between

Page 94: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

94

diploid and tetraploid Tolmiea that are directly related to ROS accumulation, ROS-

mediated stress signaling, and redox homeostasis, all critical components of drought

stress response that are either ABA-independent, or upstream of ABA in ABA-

dependent pathways. To our knowledge, this represents the second quantitative study

of gene expression response to drought stress between a diploid and autotetraploid

species pair – the other being a study in Arabidopsis thaliana which also found

substantial evidence for ROS and redox homeostasis differing between ploidal levels

(Del Pozo and Ramirez-Parra, 2014). While informative in a broad context, and a useful

first look into the gene expression changes following abiotic stress in natural

autopolyploid system, there is clearly a need to experimentally examine and test the

inferences drawn from these findings. Future work should focus on better clarifying the

role of ABA (or lack thereof) in Tolmiea, whether photosynthesis in the tetraploids

produces higher levels of ROS, and determine if the differential gene expression

discussed here is also accompanied by differential translation.

Page 95: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

95

Figure 4-1. Bar plot of the total transcriptome size per cell (the sum of per cell normalized read counts). Bar colors represent treatment day, and are grouped by individual.

Page 96: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

96

Figure 4-2. MDA plot of the 500 most variable loci. Diploids and autotetraploids are outlined in red and green respectively, and individuals coming from different populations are distinguished by shape. Dotted lines connect each day of treatment with the corresponding individual.

Page 97: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

97

Figure 4-3. Six clusters of genes exhibiting a significantly different response per transcriptome to drought over time between T. diplomenziesii and T. menziesii. Significant functional enrichments are listed beside the clusters.

Page 98: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

98

Figure 4-4. Six clusters of genes exhibiting a significantly different response per biomass to drought over time between T. diplomenziesii and T. menziesii. Significant functional enrichments are listed beside the clusters.

Page 99: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

99

Figure 4-5. Six clusters of genes exhibiting a significantly different response per cell to drought over time between T. diplomenziesii and T. menziesii. Significant functional enrichments are listed beside the clusters, with cluster 4 and 5 combined due to overall similarity.

Page 100: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

100

Figure 4-6. Venn diagram depicting the distribution of loci identified as responding differently to drought per transcriptome, per biomass, and per cell.

Per Cell

1191

Per Biomass

148

90

588

55

301

Per Transcriptome

122

n = 2,495

Differentially drought responsive genes by scale

Page 101: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

101

CHAPTER 5

GENERAL CONCLUSIONS

Although polyploidy has clearly experienced a major surge in research interest

over the last few decades, our understanding of this phenomenon remains patchy at

best. Often only the study of a single species (or species pair) serves as an illustration

for a specific phenomenon occurring at a certain time following polyploidization

(reviewed in Soltis et al., 2016). Autopolyploidy, which was long ago sidelined as

evolutionarily unimportant (e.g., Stebbins, 1950; Grant, 1981), has remained

understudied relative to allopolyploids. However, multiple studies have suggested that

autopolyploidy is as common as allopolyploidy in nature (Soltis et al., 2007; Barker et

al., 2016). Autopolyploidy is in some respects the more straightforward form of genome

doubling, as it results from a strict doubling of one genome. In contrast, allopolyploidy is

complicated by hybridization and the resulting subgenome interactions. Studying the

impact of autopolyploidy may therefore offer the clearer path towards understanding the

effects of genome doubling per se.

Throughout my dissertation work I applied an interdisciplinary approach towards

understanding the evolutionary impact of autopolyploidy in Tolmiea. Beginning with

Chapter 2, I combined field methods, ecological modeling, and measurements of

physiology to characterize divergence in climatic preference and water-use efficiency

between T. diplomenziesii and T. menziesii. Chapter 3 focused on developing methods

to overcome existing inadequacies in comparing gene expression change across ploidy

variation, enabling simultaneous comparisons of gene expression divergence across

three biological scales. Chapter 4 used the information gathered from Chapter 2, and

applied the methods from Chapter 3, to assess gene expression response to drought

Page 102: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

102

stress in T. diplomenziesii and T. menziesii. Below I summarize the major findings from

my dissertation and conclude with my future goals.

Glacial retreat can provide newly available range space, serving as a mechanism

for nascent polyploids to escape from minority cytotype exclusion (MCE; Levin, 1975).

In Tolmiea, the tetraploid occurs north of the diploid in regions that were previously

glaciated; however, it is unclear whether the tetraploid formed proceeding, or following,

the Last Glacial Maximum. Though it is not a consistent effect, some polyploids have

been found to be more cold tolerant than their diploid progenitors (e.g., Liu et al., 2011).

Increased cold tolerance may provide a nascent polyploid with a competitive advantage

over its diploid progenitor in the arctic or recently deglaciated regions. In other cases,

polyploids have been suggested to be more drought-tolerant than their diploid

progenitors, with multiple, both auto- and allopolyploids, which show an increased

drought tolerance compared to their parents (e.g., Li et al., 2013; Del Pozo and

Ramirez-Parra, 2014). Though like cold tolerance, increased drought tolerance is not

the case for all polyploids, and this trend is in need of additional empirical support.

Conversely, other researchers have suggested that even in absence of specific

physiological changes, the fixed-heterozygosity accompanying allopolyploidy conveys

an advantage by reducing the negative effects of inbreeding during colonization

(Brochmann et al., 2004).The non-fixed, but nonetheless increased, heterozygosity

maintained by many autopolyploids may also confer an adaptive advantage (Parisod

and Brochmann, 2010; Moody et al., 1993).

In Chapter 2, I used an ecological modeling-based approach to assess whether

diploid and autotetraploid Tolmiea differ in their abiotic niche preferences. Specifically,

Page 103: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

103

the goal of this work was to determine how T. menziesii and T. diplomenziesii habitat

suitability differed with respect to temperature and/or precipitation. The results of

Chapter 2 do not point towards temperature variation as a key determinant of their

divergent niche space and instead suggest water availability might be more important.

This finding was empirically tested, showing that the two species differed in their

physiological response to decreased soil moisture. As noted above, other works have

found several polyploids to be better drought adapted than their diploid progenitors, but

in Tolmiea the reverse is observed. Diploid Tolmiea uses water more efficiently than the

tetraploid during drought conditions, which should enable the diploid to cope better with

long-term drought conditions (Visger et al., 2016). Stomatal guard cells are a critical

component of transpiration regulation, and as discussed in Chapter 2, Tolmiea is a rare

example of a system in which polyploidization does not increase stomatal guard cell

length or alter their density. This finding may help explain the observation that Tolmiea

deviates from the typical pattern of water-usage alterations observed in polyploids

compared to diploids.

To better understand differences in drought tolerance in Tolmiea, Chapter 4 used

the methods developed in Chapter 3 to investigate transcriptional change following

drought stress. Most significantly, the drought stress treatment revealed that the

tetraploid individuals are much more variable in their total transcriptome size relative to

the diploid progenitor. This trend in transcriptome size variation was shown within and

between populations, as well as across individual response to drought. The magnitude

of variability in tetraploid transcriptome size represents perhaps the most significant

result of the dissertation, and supports the idea that harboring additional alleles can

Page 104: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

104

increase genetic variation. This result complements earlier findings of genetic variation

in autopolyploids compared to their parents using allozymes and other genetic markers

(e.g., Soltis and Rieseberg, 1986; Soltis and Soltis, 1989; Mahy et al., 2000). These

previous studies revealed that the increased allelic dosage and variability, as well as

increased heterozygosity, in autotetraploids can produce substantial genetic and

phenotypic variability (e.g., Tomekpe and Lumaret, 1991). A number of workers

considered these genetic attributes the key to the success of autopolyploids (e.g., Levin

1983; Thompson and Lumaret, 1992).

The genes responsive to drought tended to be expressed more highly in the

tetraploid T. menziesii than the diploid, which is in line with previous comparisons of

diploid and autotetraploid drought response (e.g., Del Pozo and Ramirez-Parra, 2014).

Significantly, gene functional categories related to reactive oxygen species (ROS) and

redox homeostasis were over-represented among the drought responsive genes that

were more highly expressed in the tetraploid. Photosynthesis is a key source of ROS,

which unless eliminated (scavenged) can also cause oxidative damage (e.g., see

Tripathy and Oelmuller, 2012). ROS are also produced when plants are subjected to

abiotic stressors, including drought, and have been shown to serve as important stress

signaling molecules (Choudhury et al., 2013; Jones, 2006; Foyer and Noctor, 2009).

During drought conditions, the combination of higher and less water-efficient

photosynthesis per cell in the tetraploid compared to the diploid (see Chapter 2 and

Chapter 3) may result in accumulation of more ROS. ROS serving as abiotic stress

signaling molecules means that a higher accumulation of ROS per cell could explain the

Page 105: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

105

increased transcriptional response to drought observed in the tetraploid compared to

the diploid.

When considering the conclusions drawn from gene expression data, it is

important to remember that mRNA abundance does not directly impact phenotype.

The central dogma of biology is the path of DNA to protein, of which transcription is an

early step. Perhaps the increased allelic dosage and allelic variability in autotetraploid

Tolmiea drives an increase in gene transcription. However, the excess transcripts must

ultimately be translated into protein to provide a functional response to drought.

Although translation of mRNA is a key intermediate step along the path from the

genotype to phenotype, it has been overlooked regarding its importance in

understanding gene dosage effects following polyploidy. The sum of mRNA under

active translation, the translatome, is ripe for study, as it has all of the advantages of

transcript-based analysis, the ability to parse homeologous contributions that have

diverged only at synonymous sites (in the case of allopolyploids), while also being one

step closer to the phenotype. Further, the translatome is one of the most likely places

to begin exploring the discontinuity between the transcriptome and proteome (Vogel and

Marcotte, 2012). Future studies should ask if genes up-regulated at the transcriptome

level in the tetraploid might be bottlenecked by translational throughput (e.g., ribosome

recruitment during translation), which therefore impact downstream protein levels that

directly effect phenotype. For example, are relatively more abundant transcripts in the

polyploid being translated at a lower rate, in other words, ribosome-limited or under

translational compensation? Polyploidy often results in larger cells and thereby a higher

volume of cytosol; could this lead to a larger pool of ribosomes from which to draw? If

Page 106: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

106

polyploid cells hold a larger pool of ribosomes, this could lead to higher rates of

translation of otherwise equivalently expressed transcripts resulting in diploid-like

transcript expression level but higher protein abundance.

Ribosome profiling offers a high-throughput method for assaying both ribosome

density and position along each mRNA in the translatome (Ingolia et al., 2009; Ingolia,

2014). The ribosome profiling workflow involves immobilization of ribosome complexes,

followed by digestion of non-ribosome-bound RNAs. This yields a pool of ~30-bp

mRNAs representing the ribosome ‘footprint’ and is readily applicable to typical

differential expression workflows or in this case, differential translation—and is

compatible with the methods developed in Chapter 3. Because ribosome profiling

begins with total RNA, it is possible to subsample a single RNA extraction for mRNA

sequencing and ribosome ‘footprint’ sequencing. This allows for a paired study design,

which can compare the transcriptome to the translatome at a single point in time, from

exactly the same tissue sample, for each individual. Future work in Tolmiea will be

aimed at investigating whether increases in polyploid gene expression are accompanied

by increases in translational throughput and the patterns of this interaction across three

biological scales.

Page 107: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

107

APPENDIX A BIOCLIMATIC RESPONSE VARIABLES FROM CHAPTER 2

Figure A-1. Niche suitability response to eight bioclimatic variables (Bio 2, 5, 8, 11, 15, 16, 17, and 18) generated during niche modeling of T. diplomenziesii (left) and T. menziesii (right).

Page 108: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

108

APPENDIX B ENVIRONMENTAL SPACE PCA FROM CHAPTER 2

Figure B-1. Environmental space PCA generated using ecospat (Broennimann et al., 2014) for testing niche equivalence and similarity.

Page 109: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

109

LIST OF REFERENCES

ADAMS, K.L., R. CRONN, R. PERCIFIELD, and J.F. WENDEL. 2003. Genes duplicated by polyploidy show unequal contributions to the transcriptome and organ-specific reciprocal silencing. Proceedings of the National Academy of Sciences of the United States of America 100: 4649–4654.

AINOUCHE, M., H. CHELAIFA, J. FERREIRA, S. BELLOT, A. AINOUCHE, and A. SALMON. 2012. Polyploid evolution in Spartina: Dealing with highly redundant hybrid Genomes. In P. S. Soltis, and D. E. Soltis [eds.], Polyploidy and Genome evolution, 225–243. Springer Berlin Heidelberg, Berlin, Heidelberg.

AKAMA, S., R. SHIMIZU-INATSUGI, K.K. SHIMIZU, and J. SESE. 2014. Genome-wide quantification of homeolog expression ratio revealed nonstochastic gene regulation in synthetic allopolyploid Arabidopsis. Nucleic acids research 42: e46.

AMBORELLA GENOME PROJECT. 2014. The Amborella genome and the evolution of flowering plants. Science 342: 1241089.

ARRIGO, N., and M.S. BARKER. 2012. Rarely successful polyploids and their legacy in plant genomes. Current Opinion in Plant Biology 15: 140–146.

AURY, J.-M., O. JAILLON, L. DURET, B. NOEL, C. JUBIN, B.M. PORCEL, B. SÉGURENS, ET AL. 2006. Global trends of whole-genome duplications revealed by the ciliate Paramecium tetraurelia. Nature 444: 171–178.

BAACK, E.J., and M.L. STANTON. 2005. Ecological factors influencing tetraploid speciation in snow buttercups (Ranunculus adoneus): Niche differentiation and tetraploid establishment. Evolution 59: 1936–1944.

BAKER, S.C., S.R. BAUER, R.P. BEYER, J.D. BRENTON, B. BROMLEY, J. BURRILL, H. CAUSTON, ET AL. 2005. The external RNA controls consortium: A progress report. Nature Methods 2: 731–734.

BARKER, M.S., N. ARRIGO, A.E. BANIAGA, Z. LI, and D.A. LEVIN. 2016. On the relative abundance of autopolyploids and allopolyploids. New Phytologist 210: 391-398.

BARKER, M.S., B. HUSBAND, AND J.C. PIRES. 2016. Spreading Wing and flying high: The evolutionary importance of polyploidy after a century of study. American Journal of Botany 103: 1139-1145.

BALDWIN, B.C., D. GOLDMAN, D. KEIL, R. PATTERSON, T. ROSATTI, AND D. WILKEN. 2012. The Jepson manual: Vascular plants of California, 2nd edn. Berkeley, CA: University of California Press.

BEAULIEU, J.M., I.J. LEITCH, S. PATEL, A. PENDHARKAR, and C.A. KNIGHT. 2008. Genome size is a strong predictor of cell size and stomatal density in angiosperms. New Phytologist 179: 975–986.

Page 110: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

110

TE BEEST, M., J.J. LE ROUX, D.M. RICHARDSON, A.K. BRYSTING, J. SUDA, M. KUBESOVÁ, and P. PYSEK. 2012. The more the better? The role of polyploidy in facilitating plant invasions. Annals of botany 109: 19–45.

BIRCHLER, J.A., M. PAL-BHADRA, and U. BHADRA. 2003. Dosage dependent gene regulation and the compensation of the X chromosome in Drosophila males. Genetica 117: 179–190.

BOLWELL, G.P., L. V. BINDSCHEDLER, K.A. BLEE, V.S. BUTT, D.R. DAVIES, S.L. GARDNER, C. GERRISH, and F. MINIBAYEVA. 2002. The apoplastic oxidative burst in response to biotic stress in plants: A three-component system. Journal of Experimental Botany 53: 1367–1376.

BRAASCH, I., and J.H. POSTLETHWAIT. 2012. Polyploidy in fish and the teleost genome duplication. In P. S. Soltis, and D. E. Soltis [eds.], Polyploidy and Genome Evolution, Springer, New York.

BROCHMANN, C., A.K. BRYSTING, I.G. ALSOS, L. BORGEN, H.H. GRUNDT, A.C. SCHEEN, and R. ELVEN. 2004. Polyploidy in arctic plants. Biological Journal of the Linnean Society 82: 521–536.

BROENNIMANN, O., M.C. FITZPATRICK, P.B. PEARMAN, B. PETITPIERRE, L. PELLISSIER, N.G. YOCCOZ, W. THUILLER, ET AL. 2012. Measuring ecological niche overlap from occurrence and spatial environmental data. Global Ecology and Biogeography 21: 481–497.

BROWN, R., and P. RICKLESS. 1949. A new method for the study of cell division and cell extension with some preliminary observations on the effect of temperature and of nutrients. Proceedings of the Royal Society of London. Series B, Biological sciences 136: 110–125.

BUGGS, R.J.A., S. CHAMALA, W. WU, J.A. TATE, P.S. SCHNABLE, D.E. SOLTIS, P.S. SOLTIS, and W.B. BARBAZUK. 2012. Rapid, repeated, and clustered loss of duplicate genes in allopolyploid plant populations of independent origin. Current Biology 22: 248–252.

BUGGS, R.J.A. 2012. Monkeying around with ploidy. Molecular Ecology 21: 5159–5161.

CAÑESTRO, C. 2012. Two rounds of whole genome duplication: Evidence and impact on the evolution of vertebrate innovations. In P. S. Soltis, and D. E. Soltis [eds.], Polyploidy and Genome Evolution, Springer, New York.

CHELAIFA, H., A. MONNIER, and M. AINOUCHE. 2010. Transcriptomic changes following recent natural hybridization and allopolyploidy in the salt marsh species Spartina x townsendii and Spartina anglica (Poaceae). New Phytologist 186: 161–174.

CHOUDHURY, S., P. PANDA, L. SAHOO, and S.K. PANDA. 2013. Reactive oxygen species signaling in plants under abiotic stress. Plant Signaling & Behavior 8: e23681.

Page 111: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

111

CLAUSEN, J., W.M. HIESEY, and D.D. KECK. 1945. Experimental studies on the nature of species II. Plant evolution through amphiploidy and autopolyploidy, with examples from Madiinae. Carnegie Institute of Wahington, Washington, DC, USA

COATE, J.E., and J.J. DOYLE. 2010. Quantifying whole transcriptome size, a prerequisite for understanding transcriptome evolution across species: An example from a plant allopolyploid. Genome Biology and Evolution 2: 534–546.

COATE, J.E., and J.J. DOYLE. 2015. Variation in transcriptome size: Are we getting the message? Chromosoma 124: 27–43.

COATE, J.E., A.F. POWELL, T.G. OWENS, and J.J. DOYLE. 2013. Transgressive physiological and transcriptomic responses to light stress in allopolyploid Glycine dolichocarpa (Leguminosae). Heredity 110: 160–70.

COLA, V. DI, O. BROENNIMANN, B. PETITPIERRE, F.T. BREINER, M. D’AMEN, C. RANDIN, R. ENGLER, ET AL. 2016. ecospat: An R package to support spatial analyses and modeling of species niches and distributions. Ecography doi:10.1111/ecog.02671.

COMBES, M.-C., A. DEREEPER, D. SEVERAC, B. BERTRAND, and P. LASHERMES. 2013. Contribution of subgenomes to the transcriptome and their intertwined regulation in the allopolyploid Coffea arabica grown at contrasted temperatures. New phytologist 200: 251–260.

CONESA, A., P. MADRIGAL, S. TARAZONA, D. GOMEZ-CABRERO, A. CERVERA, A. MCPHERSON, M.W. SZCZEŚNIAK, ET AL. 2016. A survey of best practices for RNA-seq data analysis. Genome Biology 17: 13.

CONESA, A., M.J. NUEDA, A. FERRER, and M. TALÓN. 2006. maSigPro: A method to identify significantly differential expression profiles in time-course microarray experiments. Bioinformatics 22: 1096–1102.

CORNIC, G. 2000. Drought stress inhibits photosynthesis by decreasing stomatal aperture: Not by affecting ATP synthesis. Trends in Plant Science 5: 187–188.

CHRISTENHUSZ, M.J.M. and J.W. BYNG. 2016. The number of known plants species in the world and its annual increase. Phytotaxa 261: 201.

CUI, L., P.K. WALL, J.H. LEEBENS-MACK, B.G. LINDSAY, D.E. SOLTIS, J.J. DOYLE, P.S. SOLTIS, ET AL. 2006. Widespread genome duplications throughout the history of flowering plants. Genome Research 16: 738–749.

DAI, A. 2012. Increasing drought under global warming in observations and models. Nature Climate Change 3: 52-58.

DARLINGTON, C.D. 1937. Recent advances in cytology. J. & A. Churchill, Ltd., London.

Page 112: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

112

DENG, J. BIN, B.T. DREW, E. V. MAVRODIEV, M.A. GITZENDANNER, P.S. SOLTIS, and D.E. SOLTIS. 2015. Phylogeny, divergence times, and historical biogeography of the angiosperm family Saxifragaceae. Molecular Phylogenetics and Evolution 83: 86–98.

DOLEZEL, J., J. GREILHUBER, S. LUCRETTI, A. MEISTER, M.A. LYSAK, L. NARDI, and R. OBERMAYER. 1998. Plant genome size estimation by flow cytometry: Inter-laboratory comparison. Annals of Botany 82: 17–26.

DONG, S., and K.L. ADAMS. 2011. Differential contributions to the transcriptome of duplicated genes in response to abiotic stresses in natural and synthetic polyploids. New Phytologist 190: 1045–1057.

DOYLE, J.J., and J.L. DOYLE. 1987. A rapid DNA isolation procedure for small quantities of fresh leaf tissue. Phytochem Bull 19: 11-15.

DOYLE, J.J., J.L. DOYLE, J.T. RAUSCHER, and A.H.D. BROWN. 2004. Diploid and polyploid reticulate evolution throughout the history of the perennial soybeans (Glycine subgenus Glycine). New Phytologist 161: 121–132.

DOYLE, J.J., L.E. FLAGEL, A.H. PATERSON, R.A. RAPP, D.E. SOLTIS, P.S. SOLTIS, and J.F. WENDEL. 2008. Evolutionary genetics of genome merger and doubling in plants. Annual Review of Genetics 42: 443–461.

EXTERNAL RNA CONTROLS CONSORTIUM. 2005. Proposed methods for testing and selecting the ERCC external RNA controls. BMC Genomics 6: 150.

FAROOQ, M., A. WAHID, N. KOBAYASHI, D. FUJITA, and S.M.A. BASRA. 2009. Plant drought stress: Effects , mechanisms and management. Agronomy for Sustainable Development 29: 185–212.

FAWCETT, J.A., S. MAERE, and Y. VAN DE PEER. 2009. Plants with double genomes might have had a better chance to survive the Cretaceous-Tertiary extinction event. Proceedings of the National Academy of Sciences of the United States of America 106: 5737–5742.

FELBER, F. 1991. Establishment of a tetraploid cytotype in a diploid population: Effect of relative fitness of the cytotypes. Journal of Evolutionary Biology 4: 195–207.

FLEXAS, J., and H. MEDRANO. 2002. Drought-inhibition of photosynthesis in C3 plants: Stomatal and non-stomatal limitations revisited. Annals of Botany 89: 183–189.

FOMINA-YADLIN, D., Z. DU, and J.T. MCGREW. 2014. Gene expression measurements normalized to cell number reveal large scale differences due to cell size changes, transcriptional amplification and transcriptional repression in CHO cells. Journal of Biotechnology 189: 58–69.

Page 113: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

113

FOWLER, N.L., and D.A. LEVIN. 1984. Ecological constraints on the establishment of a novel polyploid in competition with its diploid progenitor. The American Naturalist 124: 703–711.

FOYER, C.H., and G. NOCTOR. 2009. Redox regulation in photosynthetic organisms: Signaling, acclimation, and practical implications. Antioxidants & Redox Signaling 11: 861–905.

FRANKS, P.J., and G.D. FARQUHAR. 2001. The effect of exogenous abscisic acid on stomatal development, stomatal mechanics, and leaf gas exchange in Tradescantia virginiana. Plant physiology 125: 935–942.

FRAZER, G., C. CANHAM, and K. LERTZMAN. 1999. Gap Light Analyzer (GLA), Version 2.0: Imaging software to extract canopy structure and gap light transmission indices from true-colour fisheye photographs, users manual and program documentation, Simon Fraser University, Burnaby, B.C. and the Institute of Ecosystem Studies, Millbrook, New York.

GAETA, R.T., and J.C. PIRES. 2010. Homoeologous recombination in allopolyploids: The polyploid ratchet. New Phytologist 186: 18–28.

GAETA, R.T., J.C. PIRES, F. INIGUEZ-LUY, E. LEON, and T.C. OSBORN. 2007. Genomic changes in resynthesized Brassica napus and their effect on gene expression and phenotype. The Plant Cell 19: 3403–3417.

GLENNON, K.L., L.J. RISSLER, and S.A. CHURCH. 2012. Ecogeographic isolation: A reproductive barrier between species and between cytotypes in Houstonia (Rubiaceae). Evolutionary Ecology 26: 909–926.

GLENNON, K.L., M.E. RITCHIE, and K. A. SEGRAVES. 2014. Evidence for shared broad-scale climatic niches of diploid and polyploid plants. Ecology Letters 17: 574–582.

GODSOE, W., M.A. LARSON, K.L. GLENNON, and K.A. SEGRAVES. 2013. Polyploidization in Heuchera cylindrica (Saxifragaceae) did not result in a shift in climatic requirements. American Journal of Botany 100: 496–508.

GORDON, S.P., E. TSENG, A. SALAMOV, J. ZHANG, X. MENG, Z. ZHAO, D. KANG, ET AL. 2015. Widespread Polycistronic Transcripts in Fungi Revealed by Single-Molecule mRNA Sequencing D. Zheng [ed.],. PLOS ONE 10: e0132628.

GRABHERR, M.G., B.J. HAAS, M. YASSOUR, J.Z. LEVIN, D.A. THOMPSON, I. AMIT, X. ADICONIS, ET AL. 2011. Full-length transcriptome assembly from RNA-Seq data without a reference genome. Nature Biotechnology 29: 644–652.

GRANT, V. 1981. Plant Speciation. New York, Columbia University Press.

Page 114: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

114

GREILHUBER, J., J. DOLEZEL, J. WENDEL, and I.J. LEITCH. 2012. Plant Genome Diversity, Volume 2: Phsyical Structure, Behaviour and Evolution of Plant Genomes. Springer Vienna.

GUO, M., D. DAVIS, and J.A. BIRCHLER. 1996. Dosage effects on gene expression in a maize ploidy series. Genetics 142: 1349–1355.

HANSON, L., A. BOYD, M.A. T. JOHNSON, and M.D. BENNETT. 2005. First nuclear DNA C-values for 18 eudicot families. Annals of Botany 96: 1315–1320.

HAO, G.-Y., M.E. LUCERO, S.C. SANDERSON, E.H. ZACHARIAS, and N.M. HOLBROOK. 2013. Polyploidy enhances the occupation of heterogeneous environments through hydraulic related trade-offs in Atriplex canescens (Chenopodiaceae). New Phytologist 197: 970–978.

HIJMANS, R.J., S.E. CAMERON, J.L. PARRA, P.G. JONES, and A. JARVIS. 2005. Very high resolution interpolated climate surfaces for global land areas. International Journal of Climatology 25: 1965–1978.

HODGSON, J.G., M. SHARAFI, A. JALILI, S. DÍAZ, G. MONTSERRAT-MARTÍ, C. PALMER, B. CERABOLINI, ET AL. 2010. Stomatal vs. genome size in angiosperms: The somatic tail wagging the genomic dog? Annals of Botany 105: 573–584.

HUDSON, C.M., and G.C. CONANT. 2012. Yeast as a window into changes in genome complexity due to polyploidization. In P. S. Soltis, and D. E. Soltis [eds.], Polyploidy and Genome Evolution, Springer, New York.

ILUT, D.C., J.E. COATE, A.K. LUCIANO, T.G. OWENS, G.D. MAY, A. FARMER, and J.J. DOYLE. 2012. A comparative transcriptomic study of an allotetraploid and its diploid progenitors illustrates the unique advantages and challenges of RNA-seq in plant species. American Journal of Botany 99: 383–396.

INGOLIA, N.T. 2014. Ribosome profiling: new views of translation, from single codons to genome scale. Nature Reviews Genetics 15: 205–213.

INGOLIA, N.T., S. GHAEMMAGHAMI, J.R.S. NEWMAN, and J.S. WEISSMAN. 2009. Genome-wide analysis in vivo of resolution using ribosome profiling. Science 324: 218–223.

JIAO, Y., J. LEEBENS-MACK, S. AYYAMPALAYAM, J.E. BOWERS, M.R. MCKAIN, J. MCNEAL, M. ROLF, ET AL. 2012. A genome triplication associated with early diversification of the core eudicots. Genome Biology 13: R3.

JIAO, Y., and A.H. PATERSON. 2014. Polyploidy-associated genome modifications during land plant evolution. Philosophical transactions of the Royal Society of London. Series B, Biological sciences 369: 20130355.

Page 115: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

115

JIAO, Y., N.J. WICKETT, S. AYYAMPALAYAM, A.S. CHANDERBALI, L. LANDHERR, P.E. RALPH, L.P. TOMSHO, ET AL. 2011. Ancestral polyploidy in seed plants and angiosperms. Nature 473: 97–100.

JONES, D.P. 2006. Redefining Oxidative Stress. Antioxidants & Redox Signaling 8: 1–16.

JORDON-THADEN, I.E., A.S. CHANDERBALI, M.A. GITZENDANNER, and D.E. SOLTIS. 2015. Modified CTAB and TRIzol protocols improve RNA extraction from chemically complex Embryophyta. Applications in plant sciences 3: 1400105.

JOSHI, N.A., and J.N. FASS. 2011. Sickle: A sliding-window, adaptive, quality-based trimming tool for FastQ files (Version 1.33)[Software].

JUBANY-MARÍ, T., S. MUNNÉ-BOSCH, and L. ALEGRE. 2010. Redox regulation of water stress responses in field-grown plants. Role of hydrogen peroxide and ascorbate. Plant Physiology and Biochemistry 48: 351–358.

JUDD, W.S., D.E. SOLTIS, P.S. SOLTIS, and G. IONTA. 2007. Tolmiea diplomenziesii: A new species from the Pacific Northwest and the diploid sister taxon of the autotetraploid T. menziesii (Saxifragaceae). Brittonia 59: 217–225.

KALKVIK, H.M., I.J. STOUT, T.J. DOONAN, and C.L. PARKINSON. 2012. Investigating niche and lineage diversification in widely distributed taxa: Phylogeography and ecological niche modeling of the Peromyscus maniculatus species group. Ecography 35: 54–64.

KIHARA, H., and T. ONO. 1926. Chromosomenzahlen und systematische gruppierun der rumex-arten. Zeitschr Zellf Mikrosk Anat. 4: 474–481.

LANGHAM, R.J., J. WALSH, M. DUNN, C. KO, S.A. GOFF, and M. FREELING. 2004. Genomic duplication, fractionation and the origin of regulatory novelty. Genetics 166: 935–945.

LANGMEAD, B., and S.L. SALZBERG. 2012. Fast gapped-read alignment with Bowtie 2. Nature methods 9: 357–359.

LEVIN, D. 1975. Minority cytotype exclusion in local plant populations. Taxon 24: 35–43.

LEVIN, D.A. 1983. Polyploidy and novelty in flowering plants. The American Naturalist 122: 1–25.

LEVIN, D.A. 2002. The role of chromosomal change in plant evolution. Oxford University Press, New York.

LEWIS, W.H. 1980. Polyploidy in Angiosperms: Dicotyledons. In W. Lewis [ed.], Polyploidy, 241–268. Springer, New York, New York, USA.

Page 116: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

116

LI, W.-L., G.P. BERLYN, and P.M.D. ASHTON. 1996. Polyploids and their structural and physiological characteristics relative to water deficit in Betula Papyrifera (Betulaceae). American Journal of Botany 83: 15–20.

LI, X., E. YU, C. FAN, C. ZHANG, T. FU, and Y. ZHOU. 2012. Developmental, cytological and transcriptional analysis of autotetraploid Arabidopsis. Planta 236: 579–596.

LIU, B., C.L. BRUBAKER, G. MERGEAI, R.C. CRONN, and J.F. WENDEL. 2001. Polyploid formation in cotton is not accompanied by rapid genomic changes. Genome 44: 321–330.

LIU, H., M.A.R.F. SULTAN, X.L. LIU, J. ZHANG, F. YU, and H.X. ZHAO. 2015. Physiological and comparative proteomic analysis reveals different drought responses in roots and leaves of drought-tolerant wild wheat (Triticum boeoticum). Plos One 10: e0121852.

LOVÉN, J., D.A. ORLANDO, A.A. SIGOVA, C.Y. LIN, P.B. RAHL, C.B. BURGE, D.L. LEVENS, ET

AL. 2012. Revisiting global gene expression analysis. Cell 151: 476–482.

MADLUNG, A., and J.F. WENDEL. 2013. Genetic and epigenetic aspects of polyploid evolution in plants. Cytogenetic and genome research 140: 270–85.

MAHERALI, H., A.E. WALDEN, and B.C. HUSBAND. 2009. Genome duplication and the evolution of physiological responses to water stress. New Phytologist 184: 721–731.

MAHY, G., L.P. BRUEDERLE, B. CONNORS, M. VAN HOFWEGEN, and N. VORSA. 2000. Allozyme evidence for genetic autopolyploidy and high genetic diversity in tetraploid cranberry, Vaccinium oxycoccos (Ericaceae). American Journal of Botany 87: 1882–1889.

MARCHANT, D.B., D.E. SOLTIS, and P.S. SOLTIS. 2016. Patterns of abiotic niche shifts in allopolyploids relative to their progenitors. New Phytologist 212: 708–718.

MARTIN, M. 2011. Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet.journal 17: 10.

MASTERSON, J. 1994. Stomatal size in fossil plants: evidence for polyploidy in majority of angiosperms. Science 264: 421–424.

MAVRODIEV, E., M. CHESTER, V. SUÁREZ-SANTIAGO, C.J. VISGER, A. SUSANNA, R. RODRIGUEZ, R.M. BALDINI, ET AL. Parentage, multiple origins and distribution of the allotetraploid Tragopogon castellanus Levier s.l. (Asteraceae). New Phytologist 206: 1172-1183.

MAYROSE, I., S.H. ZHAN, C.J. ROTHFELS, K. MAGNUSON-FORD, M.S. BARKER, L.H. RIESEBERG, and S.P. OTTO. 2011. Recently formed polyploid plants diversify at lower rates. Science 333: 1257.

Page 117: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

117

MCINTYRE, P.J. 2012. Polyploidy associated with altered and broader ecological niches in the Claytonia perfoliata (Portulacaceae) species complex. American Journal of Botany 99: 655–662.

MISHRA, M. 1997. Stomatal characteristics at different ploidy levels in Coffea L. Annals of Botany 80: 689–692.

MITTLER, R., and E. BLUMWALD. 2015. The roles of ROS and ABA in systemic acquired acclimation. The Plant Cell Online 27: 64–70.

MITTLER, R., S. VANDERAUWERA, N. SUZUKI, G. MILLER, V.B. TOGNETTI, K. VANDEPOELE, M. GOLLERY, ET AL. 2011. ROS signaling: The new wave? Trends in Plant Science 16: 300–309.

MORTAZAVI, A., B.A. WILLIAMS, K. MCCUE, L. SCHAEFFER, and B. WOLD. 2008. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nature Methods 5: 621–628.

MÜNTZING, A. 1936. The evolutionary significance of autopolyploidy. Hereditas 21: 263–378.

MUTHIAH, M., A. RAMADASS, R.S. AMALRAJ, M. PALANIYANDI, and V. RASAPPA. 2012. Expression profiling of transcription factors (TFs) in sugarcane X Colletotrichum falcatum interaction. Journal of Plant Biochemistry and Biotechnology 22: 286–294.

OLIPHANT, T.E. 2007. SciPy: Open source scientific tools for Python. Computing in Science and Engineering 9: 10–20.

PARISOD, C., R. HOLDEREGGER, and C. BROCHMANN. 2010. Evolutionary consequences of autopolyploidy. New phytologist 186: 5–17.

PATRO, R., G. DUGGAL, and C. KINGSFORD. 2015. Salmon: Accurate, versatile and ultrafast quantification from RNA-seq data using lightweight-alignment. bioRxiv21592.

PHILLIPS, S., M. DUDÍK, and R. SCHAPIRE. 2004. A maximum entropy approach to species distribution modeling. Proceedings of the Twenty-first International Conference on Machine Learning 655–662.

PHILLIPS, S.J., R.P. ANDERSON, and R.E. SCHAPIRE. 2006. Maximum entropy modeling of species geographic distributions. Ecological Modelling 190: 231–259.

PIMENTEL, D., B. BERGER, D. FILIBERTO, M. NEWTON, B. WOLFE, E. KARABINAKIS, S. CLARK, ET AL. 2004. Water resources: Agricultural and environmental issues. BioScience 54: 909–918.

Page 118: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

118

POCKMAN, W.T., and J.S. SPERRY. 1997. Freezing-induced xylem cavitation and the northern limit of Larrea tridentata. Oecologia 109: 19–27.

DEL POZO, J.C., and E. RAMIREZ-PARRA. 2014. Deciphering the molecular bases for drought tolerance in Arabidopsis autotetraploids. Plant, cell & environment 37: 2722–2737.

R DEVELOPMENT CORE TEAM. 2014. R: A Language and Environment for Statistical Computing. Vienna, Austria : the R foundation for statistical computing. ISBN: 3-900051-07-0.

RAMSEY, J. 2011. Polyploidy and ecological adaptation in wild yarrow. Proceedings of the National Academy of Sciences of the United States of America 274: 7096–7101.

RAMSEY, J., and D.W. SCHEMSKE. 2002. Neopolyploidy in flowering plants. Annual Review of Ecology and Systematics 33: 589–639.

RAMSEY, J., and D.W. SCHEMSKE. 1998. Pathways, mechanisms, and rates of polyploid formation in flowering plants. Annual Review of Ecology and Systematics 29: 467–501.

RICE, A., L. GLICK, S. ABADI, M. EINHORN, N.M. KOPELMAN, A. SALMAN-MINKOV, J. MAYZEL, ET AL. 2015. The Chromosome Counts Database (CCDB) – A community resource of plant chromosome numbers. New Phytologist 206: 19–26.

RIDDLE, N.C., H. JIANG, L. AN, R.W. DOERGE, and J. A. BIRCHLER. 2010. Gene expression analysis at the intersection of ploidy and hybridity in maize. Theoretical and Applied Genetics 120: 341–353.

RITCHIE, M.E., B. PHIPSON, D. WU, Y. HU, C.W. LAW, W. SHI, and G.K. SMYTH. 2015. limma powers differential expression analyses for RNA-sequencing and microarray studies. Nucleic Acids Research 43: e47.

ROBERTS, A. 2013. Thesis: Ambiguous fragment assignment for high-throughput sequencing experiments. EECS Department, University of California, Berkeley.

SACK, L., and K. FROLE. 2006. Leaf structural diversity is related to hydraulic capacity in tropical rain forest trees. Ecology 87: 483–491.

SACK, L., and N.M. HOLBROOK. 2006. Leaf hydraulics. Annual Review of Plant Biology 57: 361–381.

SALMON, A., L. FLAGEL, B. YING, J.A. UDALL, and J.F. WENDEL. 2010. Homoeologous nonreciprocal recombination in polyploid cotton. New phytologist 186: 123–134.

SCARPINO, S. V, D.A. LEVIN, and L.A. MEYERS. 2014. Polyploid formation shapes flowering plant diversity. The American Naturalist 184: 456–465.

Page 119: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

119

SCHINDELIN, J., I. ARGANDA-CARRERAS, E. FRISE, V. KAYNIG, M. LONGAIR, T. PIETZSCH, S. PREIBISCH, ET AL. 2012. Fiji: An open-source platform for biological-image analysis. Nature Methods 9: 676–682.

SCOTT PINE, P., S.A. MUNRO, J.R. PARSONS, J. MCDANIEL, A. BERGSTROM LUCAS, J. LOZACH, T.G. MYERS, ET AL. 2016. Evaluation of the External RNA Controls Consortium (ERCC) reference material using a modified Latin square design. BMC Biotechnology 16. doi:10.1186/s12896-016-0281-x.

SENOCK, R.S., J.R. BARROW, R.P. GIBBENS, and C.H. HERBEL. 1991. Ecophysiology of the polyploid shrub Ariplex canescens (Chenopodiaceae) growing in situ in the northern Chihuahuan Desert. Journal of Arid Environments 21: 45–57.

SERVICK, S., C.J. VISGER, M. A. GITZENDANNER, P.S. SOLTIS, and D.E. SOLTIS. 2015. Population genetic variation, geographic structure, and multiple origins of autopolyploidy in Galax urceolata. American Journal of Botany 102: 1–10.

SESSA, E.B., and T.J. GIVNISH. 2014. Leaf form and photosynthetic physiology of Dryopteris species distributed along light gradients in eastern North America. Functional Ecology 28: 108–123.

SHI, X., D.W.-K. NG, C. ZHANG, L. COMAI, W. YE, and Z.J. CHEN. 2012. Cis- and trans-regulatory divergence between progenitor species determines gene-expression novelty in Arabidopsis allopolyploids. Nature Communications 3: 950.

SLESAK, I., M. LIBIK, B. KARPINSKA, S. KARPINSKI, and Z. MISZALSKI. 2007. The role of hydrogen peroxide in regulation of plant metabolism and cellular signalling in response to environmental stresses. Acta Biochimica Polonica 54: 39–50.

SOLTIS, D., and B. BOHM. 1986. Flavonoid chemistry of diploid and tetraploid cytotypes of Tolmiea menziesii (Saxifragaceae). Systematic Botany 11: 20–25.

SOLTIS, D., P. SOLTIS, T. RANKER, and B. NESS. 1989. Chloroplast DNA variation in a wild plant, Tolmiea menziesii. Genetics 121: 819–826.

SOLTIS, D.E. 1984. Autopolyploidy in Tolmiea menziesii (Saxifragaceae). American Journal of Botany 71: 1171–1174.

SOLTIS, D.E., V.A. ALBERT, J. LEEBENS-MACK, C.D. BELL, A.H. PATERSON, C. ZHENG, D. SANKOFF, ET AL. 2009. Polyploidy and angiosperm diversification. American Journal of Botany 96: 336–348.

SOLTIS, D.E., R. BUGGS, B. BARBAZUK, S. CHAMALA, M. CHESTER, J.P. GALLAGHER, P.S. SCHNABLE, and P.S. SOLTIS. 2012. The early stages of polyploidy: Rapid and repeated evolution in Tragopogon. In P. S. Soltis, and D. E. Soltis [eds.], Polyploidy and Genome Evolution, 271–292. Springer Berlin Heidelberg.

Page 120: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

120

SOLTIS, D.E., R.J.A. BUGGS, J.J. DOYLE, and P.S. SOLTIS. 2010. What we still don’t know about polyploidy. Taxon 59: 1387–1403.

SOLTIS, D.E., and J.J. DOYLE. 1987. Ribosomal RNA gene variation in diploid and tetraploid Tolmiea menziesii. Biochemical Systematics and Ecology 15: 75–77.

SOLTIS, D.E., and R.K. KUZOFF. 1995. Discordance between nuclear and chloroplast phylogenies in the Heuchera group. Evolution 49: 727–742.

SOLTIS, D.E., R.K. KUZOFF, M.E. MORT, M. ZANIS, M. FISHBEIN, L. HUFFORD, J. KOONTZ, and M.K. ARROYO. 2001. Elucidating deep-level phylogenetic relationships in Saxifragaceae using sequences for six chloroplastic and nuclear DNA regions. Annals of the Missouri Botanical Garden 88: 669–693.

SOLTIS, D.E., and L.H. RIESEBERG. 1986. Autopolyploidy in Tolmiea menziesii (Saxifragaceae): Genetic insights from enzyme electrophoresis. American Journal of Botany 73: 310.

SOLTIS, D.E., and P.S. SOLTIS. 1988. Electrophoretic evidence for tetrasomic segregation in Tolmiea menziesii (Saxifragaceae). Heredity 60: 375–382.

SOLTIS, D.E., and P.S. SOLTIS. 1989. Genetic consequences of autopolyploidy in Tolmiea (Saxifragaceae). Evolution 43: 586–594.

SOLTIS, D.E., and P.S. SOLTIS. 1993. Molecular-data and the dynamic nature of polyploidy. Critical Reviews in Plant Sciences 12: 243–273.

SOLTIS, D.E., and P.S. SOLTIS. 1999. Polyploidy: Recurrent formation and genome evolution. Trends in Ecology & Evolution 14: 348–352.

SOLTIS, D.E., P.S. SOLTIS, D.W. SCHEMSKE, J.F. HANCOCK, J.N. THOMPSON, B.C. HUSBAND, and W.S. JUDD. 2007. Autopolyploidy in angiosperms: Have we grossly underestimated the number of species? Taxon 56: 13–30.

SOLTIS, D.E., C.J. VISGER, D.B. MARCHANT, and P.S. SOLTIS. 2016. Polyploidy: Pitfalls and paths to a paradigm. American Journal of Botany 103: 1–21.

SOLTIS, D.E., C.J. VISGER, and P.S. SOLTIS. 2014. The polyploidy revolution then...and now: Stebbins revisited. American Journal of Botany 101: 1057–1078.

SOLTIS, P.S., X. LIU, D.B. MARCHANT, C.J. VISGER, and D.E. SOLTIS. 2014. Polyploidy and novelty: Gottlieb’s legacy. Philosophical Transactions of the Royal Society B: Biological Sciences 369: 20130351.

SOLTIS, P.S., and D.E. SOLTIS. 2009. The role of hybridization in plant speciation. Annual Review of Plant Biology 60: 561–588.

STEBBINS, G.L. 1950. Variation and Evolution in Plants. Columbia University Press.

Page 121: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

121

STEBBINS JR., G.L. 1971. Chromosomal Evolution in Higher Plants. Addison-Wesley.

STONE, S.L. 2014. The role of ubiquitin and the 26S proteasome in plant abiotic stress signaling. Frontiers in Plant Science 5: 135.

STORCHOVÁ, Z., A. BRENEMAN, J. CANDE, J. DUNN, K. BURBANK, E. O’TOOLE, and D. PELLMAN. 2006. Genome-wide genetic analysis of polyploidy in yeast. Nature 443: 541–547.

STUPAR, R.M., P.J. HERMANSON, and N.M. SPRINGER. 2007. Nonadditive expression and parent-of-origin effects identified by microarray and allele-specific expression profiling of maize endosperm. Plant Physiology 145: 411–25.

SUGIYAMA, S.-I. 2005. Polyploidy and cellular mechanisms changing leaf size: Comparison of diploid and autotetraploid populations in two species of Lolium. Annals of Botany 96: 931–938.

TANK, D.C., J.M. EASTMAN, M.W. PENNELL, P.S. SOLTIS, D.E. SOLTIS, C.E. HINCHLIFF, J.W. BROWN, ET AL. 2015. Nested radiations and the pulse of angiosperm diversification: increased diversification rates often follow whole genome duplications. New Phytologist 207: 454-467.

TATE, J.A., D.E. SOLTIS, and P.S. SOLTIS. 2005. Polyploidy in plants. In T. R. Gregory [ed.], The Evolution of the Genome, 371–426. Elsevier, San Diego.

TEZARA, W., V.J. MITCHELL, S.D. DRISCOLL, and D.W. LAWLOR. 1999. Water stress inhibits plant photosynthesis by decreasing coupling factor and ATP. Nature 401: 914–917.

THEODORIDIS, S., C. RANDIN, O. BROENNIMANN, T. PATSIOU, and E. CONTI. 2013. Divergent and narrower climatic niches characterize polyploid species of European primroses in Primula sect. Aleuritia. Journal of Biogeography 40: 1278–1289.

THOMPSON, K.A., B.C. HUSBAND, and H. MAHERALI. 2014. Climatic niche differences between diploid and tetraploid cytotypes of Chamerion angustifolium (Onagraceae). American Journal of Botany 101: 1868–1875.

THOMPSON, J.D., and R. LUMARET. 1992. The evolutionary dynamics of polyploid plants: Origins, establishment and persistence. Trends in Ecology & Evolution 7: 302–307.

TOMBESI, S., A. NARDINI, T. FRIONI, M. SOCCOLINI, C. ZADRA, D. FARINELLI, S. PONI, and A. PALLIOTTI. 2015. Stomatal closure is induced by hydraulic signals and maintained by ABA in drought-stressed grapevine. Scientific Reports 5: 12449.

Page 122: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

122

TOMEKPE, K., and R. LUMARET. 1991. Association between quantitative traits and allozyme heterozygosity in a tetrasomic species: Dactylis glomerata. Evolution 45: 359.

TRIPATHY, B.C., and R. OELMÜLLER. 2012. Reactive oxygen species generation and signaling in plants. Plant Signaling & Behavior 7: 1621–1633.

VAN DE PEER, Y. 2011. A mystery unveiled. Genome Biology 12: 113.

VAN DE PEER, Y., J.A. FAWCETT, S. PROOST, L. STERCK, and K. VANDEPOELE. 2009. The flowering world: A tale of duplications. Trends in Plant Science 14: 680–688.

VISGER, C.J., C.C. GERMAIN-AUBREY, M. PATEL, E.B. SESSA, P.S. SOLTIS, and D.E. SOLTIS. 2016. Niche divergence between diploid and autotetraploid Tolmiea. American Journal of Botany 103: 1396–1406.

VOGEL, C., and E.M. MARCOTTE. 2012. Insights into the regulation of protein abundance from proteomic and transcriptomic analyses. Nature Reviews. Genetics 13: 227–232.

VYAS, P., M.S. BISHT, S.-I. MIYAZAWA, S. YANO, K. NOGUCHI, I. TERASHIMA, and S. FUNAYAMA-NOGUCHI. 2007. Effects of polyploidy on photosynthetic properties and anatomy in leaves of Phlox drummondii. Functional Plant Biology 34: 673.

WAGNER, W. 1970. Biosystematics and evolutionary noise. Taxon 19: 146–151.

WARNER, D.A., and G.E. EDWARDS. 1993. Effects of polyploidy on photosynthesis. Photosynthesis Research 35: 135–147.

WARNER, D.A., and G.E. EDWARDS. 1989. Effects of polyploidy on photosynthetic rates, photosynthetic enzymes, contents of DNA, chlorophyll, and sizes and numbers of photosynthetic cells in the C4 dicot Atriplex confertifolia. Plant Physiology 91: 1143–1151.

WARREN, D.L., R.E. GLOR, and M. TURELLI. 2008. Environmental niche equivalency versus conservatism: Quantitative approaches to niche evolution. Evolution 62: 2868–2883.

WASILEWSKA, A., F. VLAD, C. SIRICHANDRA, Y. REDKO, F. JAMMES, C. VALON, N. FREI DIT

FREY, and J. LEUNG. 2008. An update on abscisic acid signaling in plants and more... Molecular plant 1: 198–217.

WAY, H., S. CHAPMAN, L. MCINTYRE, R. CASU, G.P. XUE, J. MANNERS, and R. SHORTER. 2005. Identification of differentially expressed genes in wheat undergoing gradual water deficit stress using a subtractive hybridisation approach. Plant Science 168: 661–670.

Page 123: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

123

WRIGHT, K., J. PIRES, and A. MADLUNG. 2009. Mitotic instability in resynthesized and natural polyploids of the genus Arabidopsis (Brassicaceae). American Journal of Botany 96: 1656–1664.

YAO, H., A. KATO, B. MOONEY, and J.A. BIRCHLER. 2011. Phenotypic and gene expression analyses of a ploidy series of maize inbred Oh43. Plant Molecular Biology 75: 237–251.

YOO, M.-J., X. LIU, J.C. PIRES, P.S. SOLTIS, and D.E. SOLTIS. 2014. Nonadditive gene expression in polyploids. Annual Review of Genetics 48: 485–517.

YOO, M.-J., E. SZADKOWSKI, and J.F. WENDEL. 2013. Homoeolog expression bias and expression level dominance in allopolyploid cotton. Heredity 110: 171–180.

YOUNG, M.D., M.J. WAKEFIELD, G.K. SMYTH, A. OSHLACK, X. FU, N. FU, S. GUO, ET AL. 2010. Gene ontology analysis for RNA-seq: Accounting for selection bias. Genome Biology 11: R14.

ZHANG, H., K. OHYAMA, J. BOUDET, Z. CHEN, J. YANG, M. ZHANG, T. MURANAKA, ET AL. 2008. Dolichol biosynthesis and its effects on the unfolded protein response and abiotic stress resistance in Arabidopsis. The Plant Cell Online 20: 1879–1898.

ZHANG, X., C. ZHAI, L. HE, Q. GUO, X. ZHANG, P. XU, H. SU, ET AL. 2014. Morphological, cytological and molecular analyses of a synthetic hexaploid derived from an interspecific hybrid between Gossypium hirsutum and Gossypium anomalum. The Crop Journal 2: 272–277.

ZSCHIESCHE, W., O. BARTH, K. DANIEL, S. BÖHME, J. RAUSCHE, and K. HUMBECK. 2015. The zinc-binding nuclear protein HIPP3 acts as an upstream regulator of the salicylate-dependent plant immunity pathway and of flowering time in Arabidopsis thaliana. New Phytologist 207: 1084–1096.

Page 124: THE EVOLUTIONARY IMPACT OF AUTOPOLYPLOIDY IN TOLMIEA ...ufdcimages.uflib.ufl.edu/UF/E0/05/09/24/00001/VISGER_C.pdf · the evolutionary impact of autopolyploidy in tolmiea (saxifragaceae)

124

BIOGRAPHICAL SKETCH

Clayton J. Visger grew up in Sacramento, California, where he attended the

Leonardo da Vinci School from first to eight grade, and graduated from John F.

Kennedy High School in 2003. He was a member of the John F. Kennedy wrestling

team, and served as the team’s captain. After high school, he enlisted in the Air Force

and served four years as a Loadmaster. During his military service, he began taking

online courses through Solano Community College, and found an appreciation for

classes with a focus on biology. Following his time in the Air Force, he enrolled in

California State University, Sacramento, and began taking classes in the spring of 2008.

During his freshman and sophomore year he was a member of the Sacramento State

Rugby team, before choosing to focus all of his energy on academics and research with

his mentor Dr. Shannon L. Datwyler; he graduated magna cum laude in the spring of

2012. Under the direction of Drs. Douglas E. Soltis and Pamela S. Soltis, he began his

doctoral work at the University of Florida in the fall of 2012, and graduated in the spring

of 2017. In August 2017, Clayton Visger began an appointment as an Assistant

Professor in the Department of Biological Sciences at his alma mater, California State

University, Sacramento.