导致非梗阻性无精子症男性精子发生阻滞的遗传变异。
Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.
机构信息
Department of Histology and Embryology, Akdeniz University School of Medicine, Antalya, Turkey.
出版信息
Cell Cycle. 2023 May;22(9):1021-1061. doi: 10.1080/15384101.2023.2171544. Epub 2023 Feb 5.
Abstract
Spermatogenic arrest is a severe form of non-obstructive azoospermia (NOA), which occurs in 10-15% of infertile men. Interruption in spermatogenic progression at premeiotic, meiotic, or postmeiotic stage can lead to arrest in men with NOA. Recent studies have intensively focused on defining genetic variants underlying these spermatogenic arrests by making genome/exome sequencing. A number of variants were discovered in the genes involving in mitosis, meiosis, germline differentiation and other basic cellular events. Herein, defined variants in NOA cases with spermatogenic arrests and created knockout mouse models for the related genes are comprehensively reviewed. Also, importance of gene panel-based screening for NOA cases was discussed. Screening common variants in these infertile men with spermatogenic arrests may contribute to elucidating the molecular background and designing novel treatment strategies.
摘要
精子发生阻滞是一种严重的非阻塞性无精子症（NOA），在 10-15%的不育男性中发生。在减数分裂前、减数分裂或减数分裂后阶段的精子发生过程中断可能导致 NOA 男性的阻滞。最近的研究通过全基因组/外显子组测序，集中精力定义这些精子发生阻滞的遗传变异。在涉及有丝分裂、减数分裂、生殖细胞分化和其他基本细胞事件的基因中发现了许多变异。在此，对具有精子发生阻滞的 NOA 病例中的明确变异以及相关基因的敲除小鼠模型进行了全面综述。还讨论了针对 NOA 病例进行基于基因组合筛查的重要性。对这些具有精子发生阻滞的不育男性进行常见变异筛查可能有助于阐明分子背景并设计新的治疗策略。
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