Article
Primary non-random X inactivation associated with disruption of Xist promoter regulation.
Human molecular genetics - 15 Mar 2001
Newall A E, Duthie S, Formstone E, Nesterova T, Alexiou M, Johnston C, Caparros M L, Brockdorff N
Abstract excerpt
In this report we demonstrate primary non-random X chromosome inactivation following targeted mutagenesis of a region immediately upstream of XIST promoter P(1). In heterozygous animals there is a preferential inactivation of the targeted X chromosome in 80--90% of cells. The phenotype correlates with inappropriate activation of XIST in a proportion of the mutant XY embryonic stem cells. Strand-specific analysis...
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