Gruhn Jennifer R, Hoffmann Eva R
Danish National Research Foundation Center for Chromosome Stability, Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; email:
Annu Rev Genet. 2022 Nov 30;56:369-390. doi: 10.1146/annurev-genet-072820-033609. Epub 2022 Sep 2.
Meiosis, a key process in the creation of haploid gametes, is a complex cellular division incorporating unique timing and intricate chromosome dynamics. Abnormalities in this elaborate dance can lead to the production of aneuploid gametes, i.e., eggs containing an incorrect number of chromosomes, many of which cannot generate a viable pregnancy. For many decades, research has been attempting to address why this process is notoriously error prone in humans compared to many other organisms. Rapidly developing technologies, access to new clinical material, and a mounting public infertility crisis have kept the field both active and quickly evolving. In this review, we discuss the history of aneuploidy in humans with a focus on its origins in maternal meiosis. We also gather current working mechanistic hypotheses, as well as up-and-coming areas of interest that point to future scientific avenues and their potential clinical applications.
减数分裂是产生单倍体配子的关键过程,是一个复杂的细胞分裂过程,包含独特的时间安排和复杂的染色体动态变化。这种精细过程中的异常会导致非整倍体配子的产生,即含有不正确染色体数目的卵子,其中许多无法孕育出 viable pregnancy。几十年来,研究一直试图解决为何与许多其他生物相比,这个过程在人类中极易出错。快速发展的技术、获取新的临床材料以及日益严重的公共不孕危机,使得该领域既活跃又迅速发展。在这篇综述中,我们讨论人类非整倍体的历史,重点关注其在母本减数分裂中的起源。我们还收集了当前可行的机制假说,以及新兴的感兴趣领域,这些领域指明了未来的科学途径及其潜在的临床应用。