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Heritability of X chromosome-inactivation phenotype in a large family
Author(s): Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C
Source: AMERICAN JOURNAL OF HUMAN GENETICS    Volume: 58    Issue: 6    Pages: 1111-1119    Published: JUN 1996  
Times Cited: 114     References: 48     
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.
Document Type: Article
Language: English
Addresses:
1. TEMPLE UNIV, SCH MED, FELS INST CANC RES & MOL BIOL, PHILADELPHIA, PA 19140 USA
2. TEMPLE UNIV, SCH MED, DEPT PATHOL, PHILADELPHIA, PA 19140 USA
3. CASE WESTERN RESERVE UNIV, SCH MED, DEPT GENET, CLEVELAND, OH 44106 USA
4. CASE WESTERN RESERVE UNIV, SCH MED, CTR HUMAN GENET, CLEVELAND, OH 44106 USA
5. UNIV CLEVELAND HOSP, CLEVELAND, OH 44106 USA
6. CHILDRENS HOSP & HLTH CTR, SAN DIEGO, CA USA
7. UNIV UTAH, MED CTR, HOWARD HUGHES MED INST, SALT LAKE CITY, UT USA
8. MCGILL UNIV, DEPT HUMAN GENET, MONTREAL, PQ CANADA
9. MCGILL UNIV, DEPT MED, MONTREAL, PQ CANADA
10. MONTREAL GEN HOSP, RES INST, MONTREAL, PQ H3G 1A4 CANADA
Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637
Subject Category: Genetics & Heredity
IDS Number: UM271
ISSN: 0002-9297
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