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Pollard, KS et al. An RNA gene expressed during cortical development evolved rapidly in humans. Nature Aug. 2006. Identified Human Accelerated Regions (HARs). Scanned the 2/3 portion of the genome that is non-coding Many of the identified regions are associated with - PowerPoint PPT Presentation

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Page 1: Pollard, KS et al. An RNA gene expressed during cortical
Page 2: Pollard, KS et al. An RNA gene expressed during cortical

Pollard, KS et al. An RNA gene expressed during corticaldevelopment evolved rapidly in humans. Nature Aug. 2006

• Scanned the 2/3 portion of the genome that is non-coding

• Many of the identified regions are associated with transcription factors and neurodevelopment genes.

• The most dramatically changed element (HAR1) is a novel RNA gene expressed during human cortical development.

Identified Human Accelerated Regions (HARs)

Page 3: Pollard, KS et al. An RNA gene expressed during cortical

- Search chimpanzee genome sequence against rat and mouse genome sequences. (96% identity > 100 bp)

- 35,000 regions identified

- Searched these regions in all other available amniote genomes searching for regions with significant changes in human.

- 49 regions identified with a statistically significant rate increase in humans (96% in non-coding regions, 24% next to a neurodevelopmental gene)

Details of the Screening Process

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Our Understanding of Human Evolution is Primarily Based on Fossils

Page 6: Pollard, KS et al. An RNA gene expressed during cortical

Gracile Australopithecines

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See Picture in Figure 4.13 for Better Resolution

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Australopithecus

• 4.1 mya to 1.2 mya• Bipedal

– Foramen magnum faces down– 3.6 my footprints found in volcanic ash near afarensis

fossil• Large projecting face, small brain case (400 cm3 )• Small in stature (3’7’’ - 4’11’’ ft)• Two distinct lineages (gracile and robust)• May have developed tools

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Homo

• 1.9 mya to present• Larger braincases (cro-magnon: 1600

cm3) than australopithecines and smaller face

• Smaller jaws and teeth• Much taller than australopithecines• Development of tools, culture, and language

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Trends in Homo Evolution

• Increase in brain volume• Increase in size• Skull evolution : vertical face, smaller jaw,

round forehead• Bipedalism• Tool development• Cultural development

Page 13: Pollard, KS et al. An RNA gene expressed during cortical

Slight IncreaseIn Body Size

Much Greater IncreaseIn Brain Volume

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Braincase Volume and Body Mass

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Robust Australopithecines

Paranthropus

Gracile Australopithecines

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Gracile Australopithecines Archaic Homo

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Archaic Homo Modern Homo

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Summary of Hominid Evolution Since the Chimp/Human Common Ancestor

•Frequent speciation produced a diversity

of species

•As many as 5 different species may have

coexisted at one time

•We are the lone survivors of an otherwise

extinct radiation of bipedal African hominids

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What is the Origin of Modern Human Populations?

• Multiregional Hypothesis– Homo sapiens evolved from an ancient

stock of Homo ergaster/erectus that originated in Africa (~ 1-1.8 mya)

• Out of Africa Hypothesis– Homo sapiens evolved from a relatively

recent stock of archaic sapiens that originated in Africa (~ 30,000-200,000 ya)

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How Can We Test These Hypotheses With Archaic and Contemporary Morphological Data?

• Multiregional Hypothesis– Predicts greater morphological

similarity between archaic and modern Homo within regions

• Out of Africa Hypothesis– Predicts greater morphological

similarity between modern forms from different regions than between modernand archaic forms within regions

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I. Morphological Support for Multiregional Hypothesis

Frayer et al. 1993. American Anthropologist 95:14-50.Li Tianyuan and D.A. Etler. 1992. Nature 357:404-407.

Liberman, D.E. 1995. Current Anthropology 36:159-197.Waddle, D.M. 1994. Nature 368:452-454.

II. Morphological Support for Out of Africa Hypothesis

Morphological Evidence Is Inconclusive

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• Multiregional Hypothesis– Predicts that Homo sapien “eve”

existed more than 1 mya.

• Out of Africa Hypothesis– Predicts that Homo sapien “eve”

existed ~ 30,000-200,000 yr ago.

How Can We Test These Hypotheses With Molecular Data?

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(Ingman et al. 2000)

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Molecular Clock Estimate of Divergence Time of Modern Humans

Gene Estimate Reference

mt DNA 166-249,000 Vigilant et al., 1991 mt DNA 129-536,000 Ruvolo et al., 1993 nuclear DNA 75-287,000 Bowcock et al., 1994 mt DNA 125-161,000 Horai et al., 1995nuclear DNA 102-450,000 Tishkoff et al., 1996

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Overall, Out of Africa is Supported by the Majority of the Evidence

“In each great region of the world the living mammals areclosely related to the extinct species of the same region. Itis , therefore, probable that Africa was formerly inhabitedby extinct apes closely allied to the gorilla and chimpanzee;

And as these two species are now man’s nearest allies,It is somewhat more probable that our early progenitors

lived on the African continent than elsewhere.”

Charles DarwinThe Descent of Man, 1871

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Finally, what about our relationship to Neandertals?

PCR analysis of Neandertalfossilized mtDNA suggest that

this was a species distinctfrom Homo sapiens.

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Neandertals are distinct from Homo sapiens