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PMID: 8023855 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S. Review

Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

American journal of human genetics ·Vol. 55 ·No. 1 ·1994-07-00 ·Pages 87-95

Wolff DJ, Brown CJ, Schwartz S, Duncan AM, Surti U, Willard HF

Abstract

The abnormal phenotype and/or mental retardation seen in persons with small marker X (mar(X)) chromosomes has been hypothesized to be due to the loss of the X inactivation center (XIC) at Xq13.2, resulting in two active copies of genes in the pericentromeric region. In order to define precisely the DNA content of mar(X) chromosomes and to correlate phenotype with karyotype, we studied small mar(X) chromosomes, using FISH with probes in the juxtacentromeric region. One of the probes was a 40-kb genomic cosmid for the XIST gene, which maps to the smallest interval known to contain the XIC and is thought to be involved in X inactivation. Our findings reveal that small mar(X) chromosomes do not include the XIC and therefore cannot be subject to X inactivation, supporting the premise that abnormal dosage of expressed genes in the pericentromeric region of the X generates the aberrant phenotype seen in patients with small mar(X) chromosomes.

Related Genes
XIST
MeSH Terms
Adult Centromere/ultrastructure Child Child, Preschool Chromosome Aberrations/genetics Chromosome Disorders Chromosome Mapping Dosage Compensation, Genetic Female Gene Deletion Genetic Markers Humans In Situ Hybridization, Fluorescence Intellectual Disability/genetics Karyotyping Male Mosaicism Phenotype RNA, Long Noncoding RNA, Untranslated Ring Chromosomes Telomere Transcription Factors/biosynthesis,genetics X Chromosome/ultrastructure
Chemicals
Genetic Markers RNA, Long Noncoding RNA, Untranslated Transcription Factors XIST non-coding RNA
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Wolff D J
Department of Genetics and Center for Human Genetics, Case Western Reserve University, Cleveland, OH 44106.
Brown C J
Schwartz S
Duncan A M
Surti U
Willard H F
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1994-07-00
Pages
87-95
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1918222
Subset
IM
Grants
NIGMS NIH HHS · GM45441 · United States
NHGRI NIH HHS · HG00107 · United States
External Links
PubMed source PMC Full Text View journal details
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