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

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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.

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Zhivotovsky, L. A., Underhill, P. A., Cinnioǧlu, C., Kayser, M., Morar, B., Kivisild, T., … 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

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