Predicting Infertility: How Genetic Variants in Oocyte Spindle Genes Affect Egg Quality.

4区 生物学 Q3 Medicine
Leelabati Biswas, Karen Schindler
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引用次数: 0

Abstract

Successful reproduction relies on the union of a single chromosomally normal egg and sperm. Chromosomally normal eggs develop from precursor cells, called oocytes, that have undergone accurate chromosome segregation. The process of chromosome segregation is governed by the oocyte spindle, a unique cytoskeletal machine that splits chromatin content of the meiotically dividing oocyte. The oocyte spindle develops and functions in an idiosyncratic process, which is vulnerable to genetic variation in spindle-associated proteins. Human genetic variants in several spindle-associated proteins are associated with poor clinical fertility outcomes, suggesting that heritable etiologies for oocyte dysfunction leading to infertility exist and that the spindle is a crux for female fertility. This chapter examines the mammalian oocyte spindle through the lens of human genetic variation, covering the genes TUBB8, TACC3, CEP120, AURKA, AURKC, AURKB, BUB1B, and CDC20. Specifically, it explores how patient-identified variants perturb spindle development and function, and it links these molecular changes in the oocyte to their cognate clinical consequences, such as oocyte maturation arrest, elevated egg aneuploidy, primary ovarian insufficiency, and recurrent pregnancy loss. This discussion demonstrates that small genetic errors in oocyte meiosis can result in remarkably far-ranging embryonic consequences, and thus reveals the importance of the oocyte's fine machinery in sustaining life.

预测不孕症:卵母细胞纺锤体基因的遗传变异如何影响卵子质量。
成功的生殖依赖于单个染色体正常的卵子和精子的结合。染色体正常的卵子由经过准确染色体分离的前体细胞(称为卵细胞)发育而成。染色体的分离过程由卵母细胞纺锤体控制,它是一种独特的细胞骨架机器,负责分割减数分裂卵母细胞中的染色质。卵母细胞纺锤体的发育和功能是一个独特的过程,很容易受到纺锤体相关蛋白基因变异的影响。人类几种纺锤体相关蛋白的遗传变异与不良的临床生育结果有关,这表明卵母细胞功能障碍导致不孕的遗传病因是存在的,而纺锤体是女性生育的关键。本章从人类遗传变异的角度研究哺乳动物卵母细胞纺锤体,涉及基因 TUBB8、TACC3、CEP120、AURKA、AURKC、AURKB、BUB1B 和 CDC20。具体来说,它探讨了患者识别出的变体如何扰乱纺锤体的发育和功能,并将卵母细胞中的这些分子变化与其相关的临床后果联系起来,如卵母细胞成熟停滞、卵子非整倍体率升高、原发性卵巢功能不全和复发性妊娠失败。这一论述表明,卵母细胞减数分裂过程中的微小遗传错误会导致范围极为广泛的胚胎后果,从而揭示了卵母细胞精密机械在维持生命方面的重要性。
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来源期刊
CiteScore
2.00
自引率
0.00%
发文量
0
期刊介绍: "Advances in Anatomy, Embryology and Cell Biology" presents critical reviews on all topical fields of normal and experimental anatomy including cell biology. The multi-perspective presentation of morphological aspects of basic biological phenomen in the human constitutes the main focus of the series. The contributions re-evaluate the latest findings and show ways for further research.
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