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

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)687-698
Number of pages12
JournalMolecular Biology and Evolution
Volume24
Issue number3
DOIs
Publication statusPublished - 01-03-2007

Fingerprint

Haplotypes
haplotypes
History
nucleotide sequences
DNA
history
common ancestry
ancestry
Microsatellite Repeats
population genetics
Population
chromosome
genome
Chad
Chromosomes, Human, X
sequence diversity
Surveys and Questionnaires
Africa
microsatellite repeats
Eastern Africa

All Science Journal Classification (ASJC) codes

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

Cite this

Shimada, Makoto K. ; Panchapakesan, Karuna ; Tishkoff, Sarah A. ; Nato, Alejandro Q. ; Hey, Jody. / Divergent haplotypes and human history as revealed in a worldwide survey of X-linked DNA sequence variation. In: Molecular Biology and Evolution. 2007 ; Vol. 24, No. 3. pp. 687-698.
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Divergent haplotypes and human history as revealed in a worldwide survey of X-linked DNA sequence variation. / Shimada, Makoto K.; Panchapakesan, Karuna; Tishkoff, Sarah A.; Nato, Alejandro Q.; Hey, Jody.

In: Molecular Biology and Evolution, Vol. 24, No. 3, 01.03.2007, p. 687-698.

Research output: Contribution to journalArticle

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