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X染色体失活:分子机制与遗传后果

X-chromosome inactivation: molecular mechanisms and genetic consequences.

作者信息

Migeon B R

机构信息

Center for Medical Genetics, Johns Hopkins University, Baltimore, MD 21287-3914.

出版信息

Trends Genet. 1994 Jul;10(7):230-5. doi: 10.1016/0168-9525(94)90169-4.

Abstract

Mammalian X-chromosome inactivation results in dosage compensation for X-linked genes. More than 30 years after its discovery, the molecular bases of this inactivation are being revealed. Multiple mechanisms are responsible for the initiation of this developmental event and the maintenance of the inactive state. Somatic cellular mosaicism, which is the genetic consequence of X-chromosome inactivation, has a profound influence on the phenotype of mammalian females.

摘要

哺乳动物的X染色体失活导致X连锁基因的剂量补偿。在其发现30多年后,这种失活的分子基础正在被揭示。多种机制负责这一发育事件的起始和失活状态的维持。体细胞嵌合现象是X染色体失活的遗传后果,对哺乳动物雌性的表型有深远影响。

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