Structural variation of the human genome: mechanisms, assays, and role in male infertility.
Structural variation of the human genome: mechanisms, assays, and role in male infertility.
复制标题
人类基因组的结构变异：机制，测定和在男性不育症中的作用。
DOI：
10.3109/19396368.2010.527427
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发表时间：
2011-02
影响因子：
2.4
通讯作者：
Lupski JR
中科院分区：
文献类型：
--
作者：
Carvalho CM;Zhang F;Lupski JR
基因组疾病被定义为由基因组结构引起的基因组重排引起的疾病，基因组结构传递不稳定性。Y染色体相关的功能障碍，如男性不育症，往往与总DNA重排，由于其独特的基因组结构。Y染色体已经进化成一种高度特化的染色体，以执行男性功能，主要是精子发生。正向和反向重复序列，其中一些回文具有高度相同的核苷酸序列，可以形成DNA十字形结构，表征Y染色体长臂的基因组结构。一些特定的Y染色体基因组缺失可能导致精子发生失败，这可能是因为去除了一个或多个在精子发生中具有潜在作用的转录单位。我们描述了人类基因组重排形成的机制，并回顾了与男性不育相关的Y染色体缺失。
Genomic disorders are defined as diseases caused by rearrangements of the genome incited by a genomic architecture that conveys instability. Y-chromosome related dysfunctions such as male infertility are frequently associated with gross DNA rearrangements resulting from its peculiar genomic architecture. The Y-chromosome has evolved into a highly specialized chromosome to perform male functions, mainly spermatogenesis. Direct and inverted repeats, some of them palindromes with highly identical nucleotide sequences that can form DNA cruciform structures, characterize the genomic structure of the Y-chromosome long arm. Some particular Y chromosome genomic deletions can cause spermatogenic failure likely because of removal of one or more transcriptional units with a potential role in spermatogenesis. We describe mechanisms underlying the formation of human genomic rearrangements on autosomes and review Y-chromosome deletions associated with male infertility.