part 3: human genetics and evolution - harvard university

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Page 1: Part 3: Human Genetics and Evolution - Harvard University

Up next!

Part 3: Human Genetics and Evolution

Elizabeth Brown

Page 2: Part 3: Human Genetics and Evolution - Harvard University

How Evolution Generates

“Endless Forms, Most Beautiful”Part 3: Human Genetics and Evolution

Marc Presler

Peter Yang

Elizabeth Brown

Image Credit: Wikimedia Commons, User: Holek

Page 3: Part 3: Human Genetics and Evolution - Harvard University

“Endless Forms, Most Beautiful”

Photo Credit Georges Biard

Page 4: Part 3: Human Genetics and Evolution - Harvard University

Natural Selection

and Human Evolution

Common Ancestor (6 million years ago)

Human“Common”chimpanzee

Bonobo

(2 million years ago)

Photo Credit IkiwanerPhoto Credit USAID Photo Credit Public Domain

Page 5: Part 3: Human Genetics and Evolution - Harvard University

Natural Selection

and Human Evolution

3,000,000,000 positions * 1% =

30,000,000 differences

Page 6: Part 3: Human Genetics and Evolution - Harvard University

Questions?

Page 7: Part 3: Human Genetics and Evolution - Harvard University

Mystery: Natural Selection

in Human Evolution

Itan et al. BMC Evolutionary Biology 2010

Page 8: Part 3: Human Genetics and Evolution - Harvard University

Pastoralism!

Alvan Fisher, Pastoral Landscape, 1854 Johannes Vermeer, The Milkmaid,

1657–1658

Page 9: Part 3: Human Genetics and Evolution - Harvard University

Pastoralism and

Milk-Drinking!• Infants drink mother’s milk:

• Milk contains a sugar, lactose

Photo Credit Ikiwaner

lactase

Page 10: Part 3: Human Genetics and Evolution - Harvard University

Pastoralism and

Milk-Drinking!

DNA

lactaseON

Photo Credit Sabrina, Wikipedia

Milk + Baby = Happy

Baby

Page 11: Part 3: Human Genetics and Evolution - Harvard University

Photo Credit

fda.gov

Pastoralism and

Milk-Drinking!

DNA

lactaseON

Milk + Baby = Happy

Baby

Milk + Adult = Unhappy

Adult DNA

lactaseOFF

Photo Credit Elizabeth

Cromwell, Wikipedia

Photo Credit Sabrina, Wikipedia

Page 12: Part 3: Human Genetics and Evolution - Harvard University

Pastoralism and

Milk-Drinking!

DNA

lactaseON

DNA

lactaseON

Photo Credit

Public Domain

Photo Credit Sabrina, Wikipedia

Milk + Baby = Happy

Baby

Milk + Adult = Happy Adult

Page 13: Part 3: Human Genetics and Evolution - Harvard University

Frequency of “Lactase Persistence”—the ability to digest lactose

Open Source: Itan et al. BMC Evolutionary Biology 2010

Everyone

is Lactase

Persistent

Almost

Nobody is

Lactase

Persistent

Page 14: Part 3: Human Genetics and Evolution - Harvard University

Milk-Drinking Adaptation

• New mutation ( ) in the genome

• Lactase persistence

DNA

lactaseON

Photo Credit

Public Domain

Photo Credit

fda.gov

Photo Credit

Public Domain

Page 15: Part 3: Human Genetics and Evolution - Harvard University

Milk-Drinking Adaptation

• New mutation in the genome

• Lactase Persistence

• Increased survival and

reproduction

• Mutation spread quickly

throughout the population

• Strong positive selection

Populations adapted to drinking

milk

DNA

ON

ON

ON

ON

ON

ON

OFF

OFF

OFF

OFF

Popula

tion

Popula

tion

Page 16: Part 3: Human Genetics and Evolution - Harvard University

Questions?

Page 17: Part 3: Human Genetics and Evolution - Harvard University

Milk-Drinking Adaptation:

Paedomorphosis?

Photo Credit Public Domain

Photo Credit Sabrina, Wikipedia

Page 18: Part 3: Human Genetics and Evolution - Harvard University

Solving the Mystery:

Milk-Drinking Adaptation

Adaptation

Functional Impact

Beneficial to survival,

reproduction

Genetic “Signature”of Selection

Genetic Variation

(Mutation)

DNA

DNA

lactase

lactase

ON

ON

ON

ON

ON

ON

Photo Credit

fda.gov

Page 19: Part 3: Human Genetics and Evolution - Harvard University

Natural Selection

in Human Evolution

Itan et al. BMC Evolutionary Biology 2010

Page 20: Part 3: Human Genetics and Evolution - Harvard University

How Evolution Generates

‘Endless Forms, Most Beautiful’

Photo Credit cdc.gov

Photo Credit

Martha de Jong-

Lantink on Flickr

Photo Credit

San Diego Shooter on

Flickr

Photo Credit mikebaird on

Flickr

Photo Credit Dawn, Wikipedia

Page 21: Part 3: Human Genetics and Evolution - Harvard University

Thank you!SITN would like to acknowledge the following

organizations for their generous support.

Harvard Medical SchoolOffice of Communications and External Relations

Division of Medical Sciences

The Harvard Graduate School of Arts and Sciences (GSAS)

The Harvard Graduate Student Council (GSC)

The Harvard Biomedical Graduate Students Organization (BGSO)

The Harvard/MIT COOP

Special thanks to our lecture coordinator, Kelsey Taylor.