Monosomy for the X chromosome

Springer Science and Business Media LLC - Tập 17 Số 5 - Trang 649-658 - 2009
Bondy, Carolyn A.1,2, Cheng, Clara1
1Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA
2NIH, Bethesda, USA

Tóm tắt

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.

Tài liệu tham khảo

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