Original Article

Heredity (2006) 96, 214–221. doi:10.1038/sj.hdy.6800779; published online 4 January 2006

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

P Balaresque1, F Manni1, J M Dugoujon3, B Crousau-Roy2 and E Heyer1

  1. 1Eco-anthropologie et Ethnobiologie, UMR5145 Department Hommes Natures Societes, MNHN, Paris, France
  2. 2Evolution et Diversit Biologique, Universit Paul Sabatier UMR 5174, Toulouse, France
  3. 3Centre d'Anthropologie, UMR 8555 CNRS, Toulouse, France

Correspondence: P Balaresque, Department of Genetics, Adrian Building, University of Leicester, University Road, Leicester LE2 7RH, UK. E-mail: plb7@le.ac.uk

Received 2 November 2004; Accepted 7 November 2005; Published online 4 January 2006.

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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 (mfemales/mmalesapprox3) or sex-specific demographic processes (Nfemales/Nmalesapprox11) or a combination of both. However, intrapopulation diversity estimated by the X/Y ratio Watterson estimator (thetaH(Y)/thetaH(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.

Keywords:

XY-homologous regions, sex-specific processes, migration rate, effective population size, microsatellites, human populations

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