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Semin Reprod Med. 2001 Jun;19(2):183-91.

Skewed X inactivation in X-linked disorders.

Author information

1
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

Abstract

X chromosome inactivation is a process by which the dosage of proteins transcribed from genes on the X chromosome is equalized between males (XY) and females (XX) through the silencing of most genes on one of the two X chromosomes in females. Although the choice of which of the two X's is inactivated is entirely random, not all women have a 50:50 ratio of cells with one or the other X chromosomes active. A number of different mechanisms lead to extremely skewed ratios and this can result in expression of the phenotype of X-linked recessive disorders in females. Nonrandom X inactivation patterns are also associated with selective female survival in male-lethal X-linked dominant disorders or with variable severity of the phenotype in women carrying X-linked dominant mutations. These features are important for the study and gene identification of X-linked disorders and for counseling of affected families.

PMID:
11480916
DOI:
10.1055/s-2001-15398
[Indexed for MEDLINE]

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