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PMID: 8651287 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Heritability of X chromosome--inactivation phenotype in a large family.

American journal of human genetics ·Vol. 58 ·No. 6 ·1996-06-00 ·Pages 1111-9

Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C

Abstract

One of the two X chromosomes in each somatic cell of normal human females becomes inactivated very early in embryonic development. Although the inactivation of an X chromosome in any particular somatic cell of the embryonic lineage is thought to be a stochastic and epigenetic event, a strong genetic influence on this process has been described in the mouse. We have attempted to uncover evidence for genetic control of X-chromosome inactivation in the human by examining X chromosome-inactivation patterns in 255 females from 36 three-generation pedigrees, to determine whether this quantitative character exhibits evidence of heritability. We have found one family in which all seven daughters of one male and the mother of this male have highly skewed patterns of X-chromosome inactivation, suggesting strongly that this quantitative character is controlled by one or more X-linked genes in some families.

MeSH Terms
Alleles Base Sequence DNA/blood DNA Primers Female Genomic Imprinting Humans Lymphocytes Male Methylation Molecular Sequence Data Pedigree Phenotype Polymerase Chain Reaction Polymorphism, Genetic RNA, Long Noncoding RNA, Untranslated Receptors, Androgen/genetics Reference Values Sex Chromosome Aberrations/genetics Transcription Factors/genetics X Chromosome
Chemicals
DNA Primers RNA, Long Noncoding RNA, Untranslated Receptors, Androgen Transcription Factors XIST non-coding RNA DNA
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Naumova A K
Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, USA.
Plenge R M
Bird L M
Leppert M
Morgan K
Willard H F
Sapienza C
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1996-06-00
Pages
1111-9
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1915075
Subset
IM
Corrections
CommentIn
PMID: 8651285
External Links
PubMed source PMC Full Text View journal details
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