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The ratio of human X chromosome to autosome diversity is positively correlated with genetic distance from genes

Abstract

The ratio of X-linked to autosomal diversity was estimated from an analysis of six human genome sequences and found to deviate from the expected value of 0.75. However, the direction of this deviation depends on whether a particular sequence is close to or far from the nearest gene. This pattern may be explained by stronger locally acting selection on X-linked genes compared with autosomal genes, combined with larger effective population sizes for females than for males.

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Figure 1: Diversity (π/D) as a function of genetic distance from genes.
Figure 2: Scatterplot of π/D versus genetic distance from genes.

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Acknowledgements

We thank O. Savina for excellent computational support and M. Nachman for comments on the manuscript.

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Authors

Contributions

M.F.H., A.E.W. and J.D.W. conceived and designed the study and wrote the paper. F.L.M., M.P.C. and J.C.W. designed the statistical analyses. A.E.W. performed bioinformatics and statistical analyses. All authors discussed the results and commented on the manuscript.

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Correspondence to Michael F Hammer.

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The authors declare no competing financial interests.

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Supplementary Tables 1–4, Supplementary Figures 1–4 and Supplementary Methods (PDF 387 kb)

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Hammer, M., Woerner, A., Mendez, F. et al. The ratio of human X chromosome to autosome diversity is positively correlated with genetic distance from genes. Nat Genet 42, 830–831 (2010). https://doi.org/10.1038/ng.651

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