{"title":"The NANOS RNA-binding protein variants: a model for understanding human infertility.","authors":"Amanda Kunik, Bellary Lakshmi, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk","doi":"10.1007/s13353-025-01009-8","DOIUrl":null,"url":null,"abstract":"<p><p>Infertility remains a significant global health challenge. With up to one in seven couples affected worldwide, the inability to conceive has become a major concern for reproductive health. Many causes of infertility are linked to genetic variants that are disruptive for germ cell homeostasis. Using causative variants to model human infertility can improve our understanding of the molecular pathways that regulate germ cell development. One notable example is the germ cell morphogen NANOS, which is highly conserved across species. Variants of NANOS are associated with infertility in various animal models, from Drosophila to humans. Here, we examine how modelling human infertility based on NANOS variants can offer insights into the molecular processes underlying germ cell development. Ultimately, uncovering the molecular basis of human infertility through this approach is vital for developing advanced diagnostic methods and therapeutic options in the future.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":1.9000,"publicationDate":"2025-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Applied Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s13353-025-01009-8","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Infertility remains a significant global health challenge. With up to one in seven couples affected worldwide, the inability to conceive has become a major concern for reproductive health. Many causes of infertility are linked to genetic variants that are disruptive for germ cell homeostasis. Using causative variants to model human infertility can improve our understanding of the molecular pathways that regulate germ cell development. One notable example is the germ cell morphogen NANOS, which is highly conserved across species. Variants of NANOS are associated with infertility in various animal models, from Drosophila to humans. Here, we examine how modelling human infertility based on NANOS variants can offer insights into the molecular processes underlying germ cell development. Ultimately, uncovering the molecular basis of human infertility through this approach is vital for developing advanced diagnostic methods and therapeutic options in the future.
期刊介绍:
The Journal of Applied Genetics is an international journal on genetics and genomics. It publishes peer-reviewed original papers, short communications (including case reports) and review articles focused on the research of applicative aspects of plant, human, animal and microbial genetics and genomics.