Journal Article

Primary non-random X inactivation associated with disruption of <i>Xist</i> promoter regulation

Alistair E. T. Newall, Sarah Duthie, Emma Formstone, Tatyana Nesterova, Maria Alexiou, Colette Johnston, Marie-Laure Caparros and Neil Brockdorff

in Human Molecular Genetics

Volume 10, issue 6, pages 581-589
Published in print March 2001 | ISSN: 0964-6906
Published online March 2001 | e-ISSN: 1460-2083 | DOI:
Primary non-random X inactivation associated with disruption of Xist promoter regulation

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In this report we demonstrate primary non-random X chromosome inactivation following targeted mutagenesis of a region immediately upstream of Xist promoter P1. 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 revealed increased sense transcription initiating upstream of Xist promoter P1. There was, however, no discernible effect on transcription from the antisense Tsix gene. We demonstrate that the in vitro and in vivo phenotypes are specifically attributable to the presence of a PGKneo cassette at the targeted locus. These findings are discussed in the context of understanding mechanisms of Xist gene regulation in X inactivation.

Journal Article.  6940 words.  Illustrated.

Subjects: Genetics and Genomics

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