Maintaining imprinting
Maintaining imprinting
复制标题
维持印记
DOI：
10.1038/75575
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发表时间：
2000
期刊：
影响因子：
30.8
通讯作者：
M. Bartolomei
中科院分区：
文献类型：
--
作者：
M. Mann;M. Bartolomei
在Prader-Willi综合征基因座上的一大群父系表达的基因的印记是由人类和小鼠的印记中心建立的。一个稀有家族成员和嵌合体小鼠携带的缺失表明，印记中心对于合子后父亲身份的维持是额外需要的。基因组印记的机制，它影响哺乳动物基因组中的一个基因子集，并导致亲本-Oforigin特异的基因表达模式，目前还知之甚少。然而，对印记基因表达中断引起的某些人类遗传病的剖析--包括Prader-Willi、Angelman和Beckwith-Wiedemann综合征--揭示了某些机制。梳理出在Prader-Willi综合征1，2(PWS)患者身上打乱的印迹区域基因如何调控的细节是有帮助的。PWS关键区跨越15q11-q13的近一半，并包含父系表达的基因(包括
The imprinting of a large cluster of paternally expressed genes at the Prader-Willi syndrome locus is established by an imprinting centre in human and mouse. Deletions carried by a member of a rare family and by chimaeric mice demonstrate that the imprinting centre is additionally required for postzygotic maintenance of paternal identity.The mechanism of genomic imprinting, which affects a subset of genes in the mammalian genome and results in parent-oforigin–specific gene-expression patterns, is poorly understood. The dissection of certain human genetic diseases caused by disruption of imprinted gene expression—including the Prader-Willi, Angelman and Beckwith-Wiedemann syndromes—has, however, disclosed some aspects of the mechanism. Teasing out the details of how genes are regulated in the imprinted region disrupted in people with Prader-Willi syndrome1, 2(PWS) has helped. The PWS critical region spans nearly half of 15q11–q13 and contains paternally expressed genes (including