The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time

Lev A. Zhivotovsky, Peter A. Underhill, Cengiz Cinnioǧlu, Manfred Kayser, Bharti Morar, Toomas Kivisild, Rosaria Scozzari, Fulvio Cruciani, Giovanni Destro-Bisol, Gabriella Spedini, Geoffrey K. Chambers, Rene J. Herrera, Kiau Kiun Yong, David Gresham, Ivailo Tournev, Marcus W. Feldman, Luba Kalaydjieva

Research output: Contribution to journalArticle

Abstract

We estimate an effective mutation rate at an average Y chromosome short-tandem repeat locus as 6.9 × 10-4 per 25 years, with a standard deviation across loci of 5.7 × 10-4, using data on microsatellite variation within Y chromosome haplogroups defined by unique-event polymorphisms in populations with documented short-term histories, as well as comparative data on worldwide populations at both the Y chromosome and various autosomal loci. This value is used to estimate the times of the African Bantu expansion, the divergence of Polynesian populations (the Maoris, Cook Islanders, and Samoans), and the origin of Gypsy populations from Bulgaria.

Original languageEnglish (US)
Pages (from-to)50-61
Number of pages12
JournalAmerican Journal of Human Genetics
Volume74
Issue number1
DOIs
StatePublished - Jan 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Zhivotovsky, L. A., Underhill, P. A., Cinnioǧlu, C., Kayser, M., Morar, B., Kivisild, T., Scozzari, R., Cruciani, F., Destro-Bisol, G., Spedini, G., Chambers, G. K., Herrera, R. J., Yong, K. K., Gresham, D., Tournev, I., Feldman, M. W., & Kalaydjieva, L. (2004). The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time. American Journal of Human Genetics, 74(1), 50-61. https://doi.org/10.1086/380911