人类非整倍体的母系起源。同源突触和重组是罪魁祸首吗?从下腹学来的音符。

Genome dynamics Pub Date : 2009-01-01 DOI:10.1159/000166638
R Garcia-Cruz, I Roig, M Garcia Caldés
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引用次数: 19

摘要

非整倍体是人类新生儿智力缺陷的主要原因。间接研究表明,在大多数情况下,额外的染色体来自不准确的减数分裂。但是,特别的是,所有的结果似乎都表明,卵子发生比精子发生更容易出错。不幸的是,由于哺乳动物雄性和雌性减数分裂发生的时间框架,迄今为止进行的大多数研究都集中在分析雄性减数分裂上。近年来,一些关于人类减数分裂的研究已经发表。其中一些揭示了重要的性别特异性差异,这些差异可能与人类女性在非整倍体发生中的主要参与有关。本文综述了人类女性减数分裂突触和重组的相关知识,并试图将其与人类非整倍体的起源联系起来。
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Maternal origin of the human aneuploidies. Are homolog synapsis and recombination to blame? Notes (learned) from the underbelly.

Aneuploidy is the leading cause of mental deficiency in human newborns. Indirect studies suggest that, in most of the cases, the extra chromosome comes from an inaccurate meiotic division. But, particularly, all results seem to indicate that oogenesis is more prone to err than is spermatogenesis. Unfortunately, due to the time-frame in which meiosis takes place in the mammalian males and females, most of the studies performed so far have focused on analyzing male meiosis. Recently, some studies focusing on human meiosis have been published. Some of them revealed important sex-specific differences that may be involved in the predominant involvement of the human female in the genesis of aneuploidy. In this article, the current knowledge we have about human female meiotic synapsis and recombination is summarized and we try to relate it to the human aneuploidy origin.

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