卵子的错误:人类母种系非整倍体研究的建立与进展。

IF 8.7 1区 生物学 Q1 GENETICS & HEREDITY Annual review of genetics Pub Date : 2022-11-30 DOI:10.1146/annurev-genet-072820-033609
Jennifer R Gruhn, Eva R Hoffmann
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引用次数: 8

摘要

减数分裂是单倍体配子产生的关键过程,是一个复杂的细胞分裂过程,具有独特的时间和复杂的染色体动力学。这种复杂的舞蹈中的异常会导致非整倍体配子的产生,也就是说,含有错误数量染色体的卵子,其中许多不能产生可行的怀孕。几十年来,研究一直试图解释为什么与许多其他生物相比,人类的这一过程臭名昭著地容易出错。快速发展的技术,获得新的临床材料,以及日益严重的公共不孕症危机使该领域保持活跃和快速发展。在这篇综述中,我们讨论了人类非整倍性的历史,重点讨论了它在母体减数分裂中的起源。我们还收集当前的工作机制假设,以及指向未来科学途径及其潜在临床应用的新兴兴趣领域。
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Errors of the Egg: The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline.

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.

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来源期刊
Annual review of genetics
Annual review of genetics 生物-遗传学
CiteScore
18.30
自引率
0.90%
发文量
17
期刊介绍: The Annual Review of Genetics, published since 1967, comprehensively covers significant advancements in genetics. It encompasses various areas such as biochemical, behavioral, cell, and developmental genetics, evolutionary and population genetics, chromosome structure and transmission, gene function and expression, mutation and repair, genomics, immunogenetics, and other topics related to the genetics of viruses, bacteria, fungi, plants, animals, and humans.
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