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Molecular Evolution of PPHLN1 Gene in Relation to HERV-M ElementJae-Won Huh1, Dae-Soo Kim2, Hong-Seok Ha1, Kung Ahn1, Yun-Ji Kim1, Ja-Rang Lee1, and Heui-Soo Kim1,2,*

1 Division of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Republic of Korea2 PBBRC, Interdisciplinary Research Program of Bioinformatics, College of Natural Sciences, Pusan National University, Busan 609-735, Republic of Korea

http://www.primate.or.kr

MOLECULAR BIOLOGY

& PHYLOGENY LAB

Abstract

HERV-M (the human endogenous retrovirus M), related to the super family of HERV-K, has a met

hionine (M) tRNA primer-binding site and is located within the periphilin gene on human chromos

ome 12q12. HERV-M has been integrated into the periphilin gene as the truncated form, 5’LTR-g

ag-pol-3’LTR. PCR (polymerase chain reaction) and RT-PCR (reverse transcription-polymerase c

hain reaction) approaches were conducted to investigate its evolutionary origins. Interestingly, the i

nsertion of various retroelements in a common ancestor genome may make different transcript vari

ants in different species. In the case of the periphiline gene, human (10 variants) and mouse (2 varia

nts) lineages show different transcript variants. Insertion of HERV-M (variant 1-3) could affect th

e protein coding region. Also Alusq/x (variant 4-9) and L1ME4a (mammalian-wide subfamilies of L

INE-1) (variant10) in humans and SINE (short interspersed repetitive element) and RLTR15 (the

mouse putative long terminal repeat) (variant 2) in mice could be driving forces in transcript divers

ification of the periphilin gene during mammalian evolution. The HERV-M derived transcripts (va

riant 1-3) were expressed in various human tissues, whereas it was not detected in crab-eating mon

key and squirrel monkey tissues by RT-PCR amplification. Taken together, HERV-M seems to hav

e been integrated into our common ancestor genome after the divergence of simians and prosimian

s, and then was actively expressed during hominoid evolution...………………………………………

……………………………………………

Introduction

Materials & Methods

Unidentified Gene

Whole Genome sequence (Golden Path, hg16)

RepeatMasker

Identification of retroelement related Gene

New finding of Hybrid Genes with HERVsConfirm with RT-PCR

Reference Sequence (Feb. 27 2004)

dbEST clustering with template(Apr. 01 2004)

Total RNA isolation

Human Tissues

Cancer cell lines

Adult Stem cells

Monkey Tissue

mRNA subtractio

n

Results & DiscussionInsertion of Retroelements during the Evolution of PPHLN1 gene

The Structure of PPHLN1 Transcript variants

Evolution of HERV-M related alternative transcript

5 Expression profiling of HERV-M related alternative transcripts

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Results & DiscussionNovel Alternative Splicing of HERV-M related to PPHLN1

gene

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Genome Information Laboratory, Pusan National University, Republic of Korea

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