Chromosome errors in human eggs shape natural fertility over reproductive life span

Chromosome errors in human eggs shape natural fertility over reproductive life span
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DOI:
10.1126/science.aav7321
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发表时间:
2019-09-27
期刊:
影响因子:
56.9
通讯作者:
Hoffmann, Eva R.
Hoffmann, Eva R.
中科院分区:
综合性期刊1区
文献类型:
--
作者:
Gruhn, Jennifer R.;Zielinska, Agata P.;Hoffmann, Eva R.

文献摘要

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染色体错误,或非整倍体,会影响到非常多的人类受孕。导致流产和先天性疾病。在这里,我们跟踪了9至43岁女性的人类卵母细胞的染色体分离,并报告了非整倍体遵循U曲线。具体的分离误差类型表现出不同的年龄依赖关系,为U曲线提供了定量解释。全染色体不分离事件优先与年轻女孩中增加的非整倍体有关,而着丝粒和更广泛的凝聚力丧失限制了女性的生育能力。我们的发现表明,源于卵母细胞的染色体错误决定了人类自然生育的曲线。
Chromosome errors, or aneuploidy, affect an exceptionally high number of human conceptions. causing pregnancy loss and congenital disorders. Here, we have followed chromosome segregation in human oocytes from females aged 9 to 43 years and report that aneuploidy follows a U-curve. Specific segregation error types show different age dependencies, providing a quantitative explanation for the U-curve. Whole-chromosome nondisjunction events are preferentially associated with increased aneuploidy in young girls, whereas centromeric and more extensive cohesion loss limit fertility as women age. Our findings suggest that chromosomal errors originating in oocytes determine the curve of natural fertility in humans.