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Publication : Autosomal dominant mutations affecting X inactivation choice in the mouse.

First Author  Percec I Year  2002
Journal  Science Volume  296
Issue  5570 Pages  1136-9
PubMed ID  12004136 Mgi Jnum  J:76512
Mgi Id  MGI:2179611 Doi  10.1126/science.1070087
Citation  Percec I, et al. (2002) Autosomal dominant mutations affecting X inactivation choice in the mouse. Science 296(5570):1136-9
abstractText  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.
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