X染色体的单体。

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology Pub Date : 2009-01-01 DOI:10.1007/s10577-009-9052-z

Carolyn A Bondy, Clara Cheng

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引用次数: 41

摘要

剂量补偿有助于平衡哺乳动物雄性和雌性的X染色体基因表达，并涉及雌性第二条X染色体的广泛沉默。如果剂量补偿机制完全抑制了第二条X染色体，那么这条“额外”染色体的实际物理损失应该没有什么后果。然而，X单体对人类和其他一些物种的正常发育、生育和寿命有重大影响。本文综述了试图从X染色体基因剂量的角度解释人类和其他哺乳动物X单体表型效应的观察和争论。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Monosomy for the X chromosome.

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.

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Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology

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