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doi: 10.1242/10.1242/jcs.00111


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Journal of Cell Science 115, 4097-4105 (2002)
Copyright © 2002 The Company of Biologists Limited
doi: 10.1242/jcs.00111


Research Article

Meiotic sex chromosome inactivation in male mice with targeted disruptions of Xist

James M. A. Turner1, Shantha K. Mahadevaiah1, David J. Elliott2, Henri-Jean Garchon3, John R. Pehrson4, Rudolf Jaenisch5 and Paul S. Burgoyne1,*

1 Division of Developmental Genetics, National Institute for Medical Research, Mill Hill, London NW7 1AA, UK
2 Institute of Human Genetics, University of Newcastle Upon Tyne, NE1 7RU, UK
3 INSERM U25, Hôpital Necker, 75743 Paris Cedex 15, France
4 Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
5 Whitehead Institute for Biomedical Research and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA

* Author for correspondence (e-mail: pburgoy{at}nimr.mrc.ac.uk)

Accepted 12 August 2002

X chromosome inactivation occurs twice during the life cycle of placental mammals. In normal females, one X chromosome in each cell is inactivated early in embryogenesis, while in the male, the X chromosome is inactivated together with the Y chromosome in spermatogenic cells shortly before or during early meiotic prophase. Inactivation of one X chromosome in somatic cells of females serves to equalise X-linked gene dosage between males and females, but the role of male meiotic sex chromosome inactivation (MSCI) is unknown. The inactive X-chromosome of somatic cells and male meiotic cells share similar properties such as late replication and enrichment for histone macroH2A1.2, suggesting a common mechanism of inactivation. This possibility is supported by the fact that Xist RNA that mediates somatic X-inactivation is expressed in the testis of male mice and humans. In the present study we show that both Xist RNA and Tsix RNA, an antisense RNA that controls Xist function in the soma, are expressed in the testis in a germ-cell-dependent manner. However, our finding that MSCI and sex-body formation are unaltered in mice with targeted mutations of Xist that prevent somatic X inactivation suggests that somatic X-inactivation and MSCI occur by fundamentally different mechanisms.

Key words: Xist/Tsix, Germline expression, Xist mutants, MacroH2A1.2, Meiotic sex chromosome inactivation, Sex body, Spermatogenesis




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