人类不孕症中的 piRNA 通路干扰

IF 12.1 1区医学 Q1 UROLOGY & NEPHROLOGY

Nature Reviews Urology Pub Date : 2024-09-13 DOI:10.1038/s41585-024-00946-z

Maria Chiara Masone

引用次数: 0

摘要

PIWI-interacting RNA（piRNA）是男性生殖细胞基因表达的关键调节因子。发表在《自然-通讯》（Nature Communications）上的一项研究评估了干扰 piRNA 生物发生对人类精子发生的影响。通过对2000名不育症男性的外显子组数据进行分析，发现了这些男性体内与piRNA通路相关的14个基因中的双唇变异。这些变异与各种睾丸表型有关，包括非梗阻性无精子症和隐性无精子症。在细胞水平上，piRNA相关基因的功能障碍导致精原细胞中piRNA水平降低和转座子去抑制。piRNA失调导致的生殖表型在小鼠和人类之间存在差异，这表明尽管piRNA通路是保守的，但仍有必要进行物种特异性研究。这项研究的结果表明，piRNA通路基因在男性不育症中起着重要作用，为今后的研究提供了潜在目标。

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piRNA pathway disruption in human infertility

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来源期刊

Nature Reviews Urology 医学-泌尿学与肾脏学

CiteScore

12.50

自引率

2.60%

发文量

123

审稿时长

6-12 weeks

期刊介绍： Nature Reviews Urology is part of the Nature Reviews portfolio of journals.Nature Reviews' basic, translational and clinical content is written by internationally renowned basic and clinical academics and researchers. This journal targeted readers in the biological and medical sciences, from the postgraduate level upwards, aiming to be accessible to professionals in any biological or medical discipline. The journal features authoritative In-depth Reviews providing up-to-date information on topics within a field's history and development. Perspectives, News & Views articles, and the Research Highlights section offer topical discussions and opinions, filtering primary research from various medical journals. Covering a wide range of subjects, including andrology, urologic oncology, and imaging, Nature Reviews provides valuable insights for practitioners, researchers, and academics within urology and related fields.