Abstract
According to the prevailing view, mammalian X chromosomes are enriched in spermatogenesis genes expressed before meiosis1,2,3 and deficient in spermatogenesis genes expressed after meiosis2,3. The paucity of postmeiotic genes on the X chromosome has been interpreted as a consequence of meiotic sex chromosome inactivation (MSCI)—the complete silencing of genes on the XY bivalent at meiotic prophase4,5. Recent studies have concluded that MSCI-initiated silencing persists beyond meiosis6,7,8 and that most genes on the X chromosome remain repressed in round spermatids7. Here, we report that 33 multicopy gene families, representing ∼273 mouse X-linked genes, are expressed in the testis and that this expression is predominantly in postmeiotic cells. RNA FISH and microarray analysis show that the maintenance of X chromosome postmeiotic repression is incomplete. Furthermore, X-linked multicopy genes exhibit a similar degree of expression as autosomal genes. Thus, not only is the mouse X chromosome enriched for spermatogenesis genes functioning before meiosis, but in addition, ∼18% of mouse X-linked genes are expressed in postmeiotic cells.
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Acknowledgements
We thank J. Alfoldi, D. Bellott, P. Burgoyne, H. Byers, J. Hughes, J. Lange, L. Reynard, S. Rozen and H. Skaletsky for helpful comments on the manuscript; D. Bellott, M. Gill, Y. Hu, J. Hughes and H. Skaletsky for technical advice; and P. Burgoyne and M. Mitchell for the Uty transgenic line. This work was supported by the Medical Research Council, US National Institutes of Health grant HD000257 (to D.C.P.), including fellowship F32HD052379 (to J.L.M.), and the Howard Hughes Medical Institute.
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J.L.M., J.M.A.T., S.K.M. and P.E.W. identified amplicons and multicopy genes. J.L.M., J.M.A.T. and S.K.M. carried out RT-PCRs and RNA FISH. J.L.M. and P.J.P. did microarray and statistical analysis. The paper was written by J.L.M., J.M.A.T. and D.C.P.
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Mueller, J., Mahadevaiah, S., Park, P. et al. The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression. Nat Genet 40, 794–799 (2008). https://doi.org/10.1038/ng.126
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DOI: https://doi.org/10.1038/ng.126
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