Determination of X-chromosome inactivation status using X-linked expressed polymorphisms identified by database searching.

Abstract:

:The large number of redundant sequences available in nucleotide databases provides a resource for the identification of polymorphisms. Expressed polymorphisms in X-linked genes can be used to determine the inactivation status of the genes, and polymorphisms in genes that are subject to inactivation can then be used as tools to examine X-chromosome inactivation status in heterozygous females. In this study, we have identified six new X-linked single-nucleotide polymorphisms and determined the inactivation status of these genes by examination of expression patterns in female cells previously demonstrated to have skewed inactivation, as well as by analysis of somatic cell hybrids retaining the inactive human X chromosome. Expression was seen from both alleles in females heterozygous for the RPS4X gene, confirming the previously reported expression from the inactive X chromosome. Expression of only a single allele was seen in females heterozygous for polymorphisms in the BGN, TM4SF2, ATP6S1, VBP1, and PDHA1 genes, suggesting that these genes are subject to X-chromosome inactivation.

journal_name

Genomics

journal_title

Genomics

authors

Kutsche R,Brown CJ

doi

10.1006/geno.2000.6153

subject

Has Abstract

pub_date

2000-04-01 00:00:00

pages

9-15

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(00)96153-6

journal_volume

65

pub_type

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