{"title":"人类不孕症中的 piRNA 通路干扰","authors":"Maria Chiara Masone","doi":"10.1038/s41585-024-00946-z","DOIUrl":null,"url":null,"abstract":"<p>PIWI-interacting RNAs (piRNAs) are crucial regulators of gene expression in male germ cells. In a study published in <i>Nature Communications</i>, the effect of disrupting piRNA biogenesis on human spermatogenesis was assessed. Analysis of exome data from >2,000 men with infertility led to the identification of biallelic variants in 14 genes related to the piRNA pathway in these men. These variants were associated with various testicular phenotypes, including non-obstructive azoospermia and cryptozoospermia. At a cellular level, dysfunction of piRNA-related genes resulted in reduced piRNA levels and de-repression of transposons in spermatogonia. The reproductive phenotypes of piRNA deregulation varied between mice and humans, highlighting that, although the piRNA pathway is conserved, species-specific research is still necessary. Results from this study show a prominent role of piRNA pathway genes in male infertility, providing potential targets for future investigations.</p>","PeriodicalId":19088,"journal":{"name":"Nature Reviews Urology","volume":null,"pages":null},"PeriodicalIF":12.1000,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"piRNA pathway disruption in human infertility\",\"authors\":\"Maria Chiara Masone\",\"doi\":\"10.1038/s41585-024-00946-z\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>PIWI-interacting RNAs (piRNAs) are crucial regulators of gene expression in male germ cells. In a study published in <i>Nature Communications</i>, the effect of disrupting piRNA biogenesis on human spermatogenesis was assessed. Analysis of exome data from >2,000 men with infertility led to the identification of biallelic variants in 14 genes related to the piRNA pathway in these men. These variants were associated with various testicular phenotypes, including non-obstructive azoospermia and cryptozoospermia. At a cellular level, dysfunction of piRNA-related genes resulted in reduced piRNA levels and de-repression of transposons in spermatogonia. The reproductive phenotypes of piRNA deregulation varied between mice and humans, highlighting that, although the piRNA pathway is conserved, species-specific research is still necessary. Results from this study show a prominent role of piRNA pathway genes in male infertility, providing potential targets for future investigations.</p>\",\"PeriodicalId\":19088,\"journal\":{\"name\":\"Nature Reviews Urology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":12.1000,\"publicationDate\":\"2024-09-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature Reviews Urology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1038/s41585-024-00946-z\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature Reviews Urology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41585-024-00946-z","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
PIWI-interacting RNAs (piRNAs) are crucial regulators of gene expression in male germ cells. In a study published in Nature Communications, the effect of disrupting piRNA biogenesis on human spermatogenesis was assessed. Analysis of exome data from >2,000 men with infertility led to the identification of biallelic variants in 14 genes related to the piRNA pathway in these men. These variants were associated with various testicular phenotypes, including non-obstructive azoospermia and cryptozoospermia. At a cellular level, dysfunction of piRNA-related genes resulted in reduced piRNA levels and de-repression of transposons in spermatogonia. The reproductive phenotypes of piRNA deregulation varied between mice and humans, highlighting that, although the piRNA pathway is conserved, species-specific research is still necessary. Results from this study show a prominent role of piRNA pathway genes in male infertility, providing potential targets for future investigations.
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.