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Evaluating signatures of sex-specific processes in the human genome

Nature Genetics volume 41, pages 8–10 (2009)Cite this article

Comparing levels of genetic variation between the X chromosome and autosomes can reveal the different demographic histories of males and females of a species. Taking this approach, two new studies report that the effective population sizes of men and women differ, but they disagree as to which sex outnumbered the other.

Evolutionary forces and social practices that differentially impact males and females can lead to divergent patterns of genetic variation among the autosomes, X chromosome, Y chromosome and the mitochondrial genome1,2. For example, populations in which a few males father a disproportionate number of offspring show low levels of Y-chromosomal genetic diversity. Likewise, societies in which females migrate to their husbands' homes after marriage (patrilocality) experience more gene flow of X chromosomes and mtDNA3,4. Investigating genomic signatures of sex-biased processes has relied on comparing the nonrecombining Y chromosomes and mitochondrial genomes5, and it is hoped that the availability of genome-level data will provide a much finer-scale view of both patterns and processes6,7,8. On page 66 of the current issue, David Reich and colleagues9 report evidence for accelerated genetic drift on the X chromosome (that is, smaller effective population size, Ne, of females) during human migrations out of Africa, based on finding disproportionately low sequence variation and high SNP frequency differentiation of the X chromosome relative to that of the autosomes in non-African populations. Their results are in contrast to a recent paper by Michael Hammer and colleagues, who with a different study design estimated an unexpectedly high X-chromosomal diversity10.

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Figure 1: Contrasting patterns of X-chromosomal and autosomal diversity.

References

  1. Wilkins, J.F. Curr. Opin. Genet. Dev. 16, 611–617 (2006).

    Article  CAS  Google Scholar 

  2. Schaffner, S.F. Nat. Rev. Genet. 5, 43–51 (2004).

    Article  CAS  Google Scholar 

  3. Seielstad, M.T., Minch, E. & Cavalli-Sforza, L.L. Nat. Genet. 20, 278–280 (1998).

    Article  CAS  Google Scholar 

  4. Wilder, J.A., Kingan, S.B., Mobasher, Z., Pilkington, M.M. & Hammer, M.F. Nat. Genet. 36, 1122–1125 (2004).

    Article  CAS  Google Scholar 

  5. Ségurel, L. et al. PLoS Genet. 4, e1000200 (2008).

    Article  Google Scholar 

  6. Oota, H., Settheetham-Ishida, W., Tiwawech, D., Ishida, T. & Stoneking, M. Nat. Genet. 29, 20–21 (2001).

    Article  CAS  Google Scholar 

  7. Wilkins, J.F. & Marlowe, F.W. Bioessays 28, 290–300 (2006).

    Article  Google Scholar 

  8. Ramachandran, S., Rosenberg, N.A., Feldman, M.W. & Wakeley, J. Theor. Popul. Biol. 74, 291–301 (2008).

    Article  Google Scholar 

  9. Keinan, A., Mullikin, J.C., Patterson, N. & Reich, D. Nat. Genet. 41, 66–70 (2009).

    Article  CAS  Google Scholar 

  10. Hammer, M.F., Mendez, F.L., Cox, M.P., Woerner, A.E. & Wall, J.D. PLoS Genet. 4, e1000202 (2008).

    Article  Google Scholar 

  11. International HapMap Consortium. Nature 437, 1299–1320 (2005).

  12. International HapMap Consortium. Nature 449, 851–861 (2007).

  13. Bentley, D.R. et al. Nature 456, 53–59 (2008).

    Article  CAS  Google Scholar 

Download references

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Authors and Affiliations

  1. Carlos D. Bustamante is at the Department of Biological Statistics and Computational Biology, Cornell University, 102 Weill Hall, Ithaca, New York 14850, USA.,

    Carlos D Bustamante

  2. Sohini Ramachandran is at the Society of Fellows and Department of Organismic and Evolutionary Biology, Harvard University, 4100 Biological Laboratories, 16 Divinity Avenue, Cambridge, Massachusetts 02138, USA.,

    Sohini Ramachandran

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  1. Carlos D Bustamante
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  2. Sohini Ramachandran
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Correspondence to Carlos D Bustamante.

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Bustamante, C., Ramachandran, S. Evaluating signatures of sex-specific processes in the human genome. Nat Genet 41, 8–10 (2009). https://doi.org/10.1038/ng0109-8

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