title: Autosomal dominant mutations affecting X inactivation choice in the mouse.
abstract: 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.
authors: Howard Hughes Medical Institute and Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors: Ivona
authors: I
authors: Percec
authors: Robert M
authors: RM
authors: Plenge
authors: Joseph H
authors: JH
authors: Nadeau
authors: Marisa S
authors: MS
authors: Bartolomei
authors: Huntington F
authors: HF
authors: Willard
mesh_terms: D000483:Alleles; D000818:Animals; D003433:Crosses, Genetic; D004303:Dosage Compensation, Genetic; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D008297:Male; D051379:Mice; D008807:Mice, Inbred BALB C; D016296:Mutagenesis; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014960:X Chromosome / Q000235:genetics*