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Mechanisms and consequences of somatic mosaicism in humans

被引：300
作者：
Youssoufian, H [1 ]
Pyeritz, RE
机构：
[1] Bristol Myers Squibb Co, Dept Clin Discovery, Princeton, NJ 08543 USA
[2] Univ Penn, Sch Med, Div Med Genet, Philadelphia, PA 19104 USA
来源：
NATURE REVIEWS GENETICS | 2002年 / 3卷 / 10期
关键词：
D O I：
10.1038/nrg906
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Somatic mosaicism - the presence of genetically distinct populations of somatic cells in a given organism - is frequently masked, but it can also result in major phenotypic changes and reveal the expression of otherwise lethal genetic mutations. Mosaicism can be caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities and the spontaneous reversion of inherited mutations. In this review, we discuss the human disorders that result from somatic mosaicism, as well as the molecular genetic mechanisms by which they arise. Specifically, we emphasize the role of selection in the phenotypic manifestations of mosaicism.
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页码：748 / 758
页数：11
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