丹麦哥本哈根大学Eva R. Hoffmann小组近期研究发现人卵中的染色体错误会影响生殖寿命中的自然繁殖力。相关论文发表在2019年9月27日出版的《科学》杂志上。

研究人员追踪了9岁至43岁女性人卵母细胞中的染色体分离，并报告非整倍性遵循U曲线。特定的分离错误类型显示出不同的年龄依赖性，从而为U曲线提供了定量的解释。全染色体非分离事件优先与年轻女孩的非整倍性增加有关，而着丝粒和更大范围的cohesion蛋白丢失会随着女性年龄增加限制其生育能力。这些发现表明，源自卵母细胞的染色体错误决定了人类的自然繁殖力曲线。

据介绍，染色体错误或非整倍性会影响大量人类的受孕，导致流产和先天性疾病。

附：英文原文

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

Author: Jennifer R. Gruhn, Agata P. Zielinska, Vallari Shukla, Robert Blanshard, Antonio Capalbo, Danilo Cimadomo, Dmitry Nikiforov, Andrew Chi-Ho Chan, Louise J. Newnham, Ivan Vogel, Catello Scarica, Marta Krapchev, Deborah Taylor, Stine Gry Kristensen, Junping Cheng, Erik Ernst, Anne-Mette Bay Bjrn, Lotte Berdiin Colmorn, Martyn Blayney, Kay Elder, Joanna Liss, Geraldine Hartshorne, Marie Louise Grndahl, Laura Rienzi, Filippo Ubaldi, Rajiv McCoy, Krzysztof Lukaszuk, Claus Yding Andersen, Melina Schuh, Eva R. Hoffmann

Issue&Volume: Volume 365 Issue 6460

Abstract: 

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.

DOI: 10.1126/science.aav7321

Source:https://science.sciencemag.org/content/365/6460/1466