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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 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 revealed increased sense transcription initiating upstream of XIST promoter P(1). 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.

Type

Journal article

Journal

Hum Mol Genet

Publication Date

15/03/2001

Volume

10

Pages

581 - 589

Keywords

Alleles, Animals, Cells, Cultured, Dosage Compensation, Genetic, Gene Deletion, Mice, Mutagenesis, Oligonucleotides, Antisense, Phenotype, Promoter Regions, Genetic, RNA, Long Noncoding, RNA, Untranslated, Transcription Factors