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Science 10 May 2002:
Vol. 296. no. 5570, pp. 1136 - 1139
DOI: 10.1126/science.1070087
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Reports

Autosomal Dominant Mutations Affecting X Inactivation Choice in the Mouse

Ivona Percec,12 Robert M. Plenge,2* Joseph H. Nadeau,2 Marisa S. Bartolomei,1dagger Huntington F. Willard23dagger

X chromosome inactivation is the silencing mechanism eutherian mammals use to equalize the expression of X-linked genes between males and females early in embryonic development. In the mouse, genetic control of inactivation requires elements within the X inactivation center (Xic) on the X chromosome that influence the choice of which X chromosome is to be inactivated in individual cells. It has long been posited that unidentified autosomal factors are essential to the process. We have used chemical mutagenesis in the mouse to identify specific factors involved in X inactivation and report two genetically distinct autosomal mutations with dominant effects on X chromosome choice early in embryogenesis.

1 Howard Hughes Medical Institute and Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
2 Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
3 Research Institute and Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, USA.
*   Present address: Department of Medicine, University of California, San Francisco, CA 94143, USA.

dagger    To whom correspondence should be addressed. E-mail: bartolom{at}mail.med.upenn.edu (M.S.B.) and willard{at}uhri.org (H.F.W.).

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