Monosomy for the X chromosome

被引：27

作者：

Bondy, Carolyn A. ^{[1
]}

Cheng, Clara ^{[1
]}

机构：

[1] NICHHD, Dev Endocrinol Branch, NIH, Bethesda, MD 20892 USA

来源：

CHROMOSOME RESEARCH | 2009年 / 17卷 / 05期

关键词：

Turner syndrome; X-monosomy; dosage compensation; X inactivation; pseudoautosomal gene; epigenetics; chromosomal interaction; TURNER-SYNDROME; GENE-EXPRESSION; DOSAGE COMPENSATION; GROWTH-HORMONE; SHORT STATURE; CELL-LINES; INACTIVATION; PHENOTYPE; FEMALE; SEX;

D O I：

10.1007/s10577-009-9052-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Dosage compensation serves to equalize X chromosome gene expression in mammalian males and females and involves extensive silencing of the 2nd X chromosome in females. If dosage compensation mechanisms completely suppressed the 2nd X chromosome, then actual physical loss of this "eXtra" chromosome should have few consequences. However, X monosomy has major effects upon normal development, fertility and longevity in humans and some other species. This article reviews observations and arguments attempting to explain the phenotypic effects of X monosomy in humans and other mammals in terms of X chromosome gene dosage.

引用

页码：649 / 658

页数：10

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