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Estimating sex-specific processes in human populations: Are XY-homologous markers an effective tool?

Abstract : Homologous markers on the sex-specific regions of the X- and Y-chromosomes are differentially inherited through males and females, and have similar molecular characteristics. They may therefore be useful as a complement to the comparison of mtDNA and Y-chromosomal haplotypes for estimating sex-specific processes shaping human population structure. To test this idea, we analyzed XY-homologous microsatellite diversity in 33 human populations from Africa, Asia and Europe. Interpopulation comparisons suggest that the generally discordant pattern of genetic variation observed for X- and Y-linked markers could be an outcome of sex-specific migration processes (m(females)/m(males) approximately 3) or sex-specific demographic processes (N(females)/N(males) approximately 11) or a combination of both. However, intrapopulation diversity estimated by the X/Y ratio Watterson estimator (theta(H(Y))/theta(H(X))) suggests that the scenarios required to explain the global genetic variation of XY-homologous markers are many and complex, and that the sex-specific processes (effective population size and migration rate) shaping human population structures are likely to be specific to each population under study. XY-homologous markers provide an insight into the genuine complexity of sex-specific processes, and their further exploitation in human population studies seems worthwhile.
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Contributor : Jean-Michel Dugoujon <>
Submitted on : Tuesday, July 24, 2007 - 4:53:44 PM
Last modification on : Saturday, March 28, 2020 - 2:16:42 AM


  • HAL Id : hal-00165123, version 1


Balaresque Patricia, Manni Franz, Dugoujon Jean-Michel, Crouau-Roy Brigitte, Heyer Evelyne. Estimating sex-specific processes in human populations: Are XY-homologous markers an effective tool?. Heredity, Nature Publishing Group, 2006, 96 (3), pp.214-221. ⟨hal-00165123⟩



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