The geographic distribution of human Y chromosome variation

Michael F Hammer, A. B. Spurdle, Tatiana Karafet, M. R. Bonner, E. T. Wood, A. Novelletto, P. Malaspina, R. J. Mitchell, S. Horai, T. Jenkins, S. L. Zegura

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Abstract

We examined variation on the nonrecombining portion of the human Y chromosome to investigate human evolution during the last 200,000 years. The Y-specific polymorphic sites included the Y Alu insertional polymorphism or 'YAP' element (DYS287), the poly(A) tail associated with the YAP element, three point mutations in close association with the YAP insertion site, an A- G polymorphic transition (DYS271), and a tetranucleotide microsatellite (DYS19). Global variation at the five bi-allelic sites (DYS271, DYS287, and the three point mutations) gave rise to five 'YAP haplotypes' in 60 populations from Africa, Europe, Asia, Australasia, and the New World (n = 1500). Combining the multi-allelic variation at the microsatellite loci (poly(A) tail and DYS19) with the YAP haplotypes resulted in a total of 27 'combination haplotypes'. All five of the YAP haplotypes and 21 of the 27 combination haplotypes were found in African populations, which had greater haplotype diversity than did populations from other geographical locations. Only subsets of the five YAP haplotypes were found outside of Africa. Patterns of observed variation were compatible with a variety of hypotheses, including multiple human migrations and range expansions.

Original languageEnglish (US)
Pages (from-to)787-805
Number of pages19
JournalGenetics
Volume145
Issue number3
StatePublished - Mar 1997

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Chromosomes, Human, Y
Haplotypes
Point Mutation
Microsatellite Repeats
Human Migration
Australasia
Population
Messenger RNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Hammer, M. F., Spurdle, A. B., Karafet, T., Bonner, M. R., Wood, E. T., Novelletto, A., ... Zegura, S. L. (1997). The geographic distribution of human Y chromosome variation. Genetics, 145(3), 787-805.

The geographic distribution of human Y chromosome variation. / Hammer, Michael F; Spurdle, A. B.; Karafet, Tatiana; Bonner, M. R.; Wood, E. T.; Novelletto, A.; Malaspina, P.; Mitchell, R. J.; Horai, S.; Jenkins, T.; Zegura, S. L.

In: Genetics, Vol. 145, No. 3, 03.1997, p. 787-805.

Research output: Contribution to journalArticle

Hammer, MF, Spurdle, AB, Karafet, T, Bonner, MR, Wood, ET, Novelletto, A, Malaspina, P, Mitchell, RJ, Horai, S, Jenkins, T & Zegura, SL 1997, 'The geographic distribution of human Y chromosome variation', Genetics, vol. 145, no. 3, pp. 787-805.
Hammer MF, Spurdle AB, Karafet T, Bonner MR, Wood ET, Novelletto A et al. The geographic distribution of human Y chromosome variation. Genetics. 1997 Mar;145(3):787-805.
Hammer, Michael F ; Spurdle, A. B. ; Karafet, Tatiana ; Bonner, M. R. ; Wood, E. T. ; Novelletto, A. ; Malaspina, P. ; Mitchell, R. J. ; Horai, S. ; Jenkins, T. ; Zegura, S. L. / The geographic distribution of human Y chromosome variation. In: Genetics. 1997 ; Vol. 145, No. 3. pp. 787-805.
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