A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.

doi:10.1038/ng1197-353

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Article

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.

Nature genetics - 1 Nov 1997

Plenge R M, Hendrich B D, Schwartz C, Arena J F, Naumova A, Sapienza C, Winter R M, Willard H F

Abstract excerpt

X-chromosome inactivation is the process by which a cell recognizes the presence of two copies of an X chromosome early in the development of XX embryos and chooses one to be active and one to be inactive. Although it is commonly believed that the initiation of X inactivation is random, with an e...

Topics

Deoxyribonucleases, Type II Site-Specific
Dosage Compensation, Genetic
Female
Haplotypes
Humans
Male
Mutation
Pedigree
Promoter Regions, Genetic
RNA, Long Noncoding
RNA, Untranslated
Receptors, Androgen
Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 9354806
DOI: 10.1038/ng1197-353

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9354806-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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