Understanding the genetics of human infertility

• 成果类型: Review
• 署名作者: Sang, Qing; Ray, Pierre F.; Wang, Lei
• 署名单位: Fudan University; Fudan University; Institut National de la Sante et de la Recherche Medicale (Inserm); Communaute Universite Grenoble Alpes; Universite Grenoble Alpes (UGA); Centre National de la Recherche Scientifique (CNRS); CNRS - National Institute for Biology (INSB)
• 刊物名称: SCIENCE
• ISSN/ISSBN: 0036-14112
• DOI: 10.1126/science.adf7760
• 发表日期: 2023-04-13
• 页码: 158-163
• 关键词: homozygous mutation; spermatozoa; activation; diagnosis; women; leads; RISK

摘要

Reproduction involves a wide range of biological processes, including organ formation and development, neuroendocrine regulation, hormone production, and meiosis and mitosis. Infertility, the failure of reproduction, has become a major issue for human reproductive health and affects up to one in seven couples worldwide. Here, we review various aspects of human infertility, including etiology, mechanisms, and treatments, with a particular emphasis on genetics. We focus on gamete production and gamete quality, which is the core of successful reproduction. We also discuss future research opportunities and challenges to further expand our understanding of human infertility and improve patient care by providing precision diagnosis and personalized treatments.