Divergent haplotypes and human history as revealed in a worldwide survey of X-linked DNA sequence variation

Makoto K. Shimada, Karuna Panchapakesan, Sarah A. Tishkoff, Alejandro Q. Nato, Jody Hey

研究成果: Article

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The population genetic history of a 10.1-kbp noncoding region of the human X chromosome was studied using the males of the HGDP-CEPH Human Genome Diversity Panel (672 individuals from 52 populations). The geographic distribution of patterns of variation was roughly consistent with previous studies, with the major exception that 1 highly divergent haplotype (haplotype X, hX) was observed at low frequency in widely scattered non-African populations and not at all observed in sub-Saharan African populations. Microsatellite (short tandem repeat) variation within the sequenced region was low among copies of hX, even though the estimated time of ancestry of hX and other sequences was 1.44 Myr. The estimated age of the common ancestor of all hX copies was 5,230 years (95% consistency index: 2,000-75,480 years). To further address the presence of hX in Africa, additional samples from Chad and Tanzania were screened. Five additional copies of hX were observed, consistent with a history in which hX was present in Africa prior to the migration of modern humans out of Africa and with eastern Africa being the source of non-African modern human populations. Taken together, these features of hX - that it is much older than other haplotypes and uncommon and patchily distributed throughout Africa, Europe, and Asia - present a cautionary tale for interpretations of human history.

元の言語English
ページ(範囲)687-698
ページ数12
ジャーナルMolecular Biology and Evolution
24
発行部数3
DOI
出版物ステータスPublished - 01-03-2007
外部発表Yes

All Science Journal Classification (ASJC) codes

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics

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