Heritability of X chromosome-inactivation phenotype in a large family

Journal Article · Sat Jun 01 04:00:00 EDT 1996 · American Journal of Human Genetics

OSTI ID:446926

Naumova, A K; Sapienca, C ^[1]; Plenge, R M; Willard, H F ^[2]

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1. Temple Univ. School of Medicine, Philadelphia, PA (United States)
2. Case Western Reserve Univ. School of Medicine and Univ. Hospitals of Cleveland, OH (United States); and others

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. 48 refs., 3 figs., 1 tab.

• OSTI ID: 446926
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 58; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CELL PROLIFERATION
CHROMOSOMAL ABERRATIONS
DNA SEQUENCING
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HUMAN X CHROMOSOME
MAN
METHYLATION
ONTOGENESIS
PHENOTYPE
POLYMERASE CHAIN REACTION
SOMATIC CELLS
STRUCTURE-ACTIVITY RELATIONSHIPS