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doi:10.1534/genetics.105.041095
A more recent version of this article appeared on August 1, 2005.
REGULAR RESEARCH PAPERS |
Deep haplotype divergence and long-range linkage disequilibrium at Xp21.1 provide evidence that humans descend from a structured ancestral population
Daniel Garrigan 1, Zahra Mobasher 1, Sarah B Kingan 1, Jason A Wilder 1 and Michael F Hammer 1*
1 University of Arizona
* To whom correspondence should be addressed. E-mail: mfh{at}u.arizona.edu.
Submitted on January 19, 2005
Revised on April 11, 2005
Accepted on 20 April 2005
Fossil evidence links human ancestry with populations that evolved modern gracile morphology in Africa 130,000 - 160,000 years ago. Yet fossils alone do not provide clear answers to the question of whether the ancestors of all modern Homo sapiens comprised a single African population or an amalgamation of distinct archaic populations. DNA sequence data have consistently supported a single origin model in which anatomically modern Africans expanded and completely replaced all other archaic hominin populations. Aided by a novel experimental design, we present the first genetic evidence that statistically rejects the null hypothesis that our species descends from a single, historically panmictic population. In a global sample of 42 X chromosomes, two African individuals carry a lineage of non-coding 17.5 kilobase sequence that has survived for over one million years without any clear traces of ongoing recombination with other lineages at this locus. These patterns of deep haplotype divergence and long-range linkage disequilibrium are best explained by a prolonged period of ancestral population subdivision followed by relatively recent interbreeding. This inference supports human evolution models that incorporate admixture between divergent African branches of the genus Homo.
Key Words: Homo sapiens, X chromosome, admixture, hybridization, population structure
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