{"title":"探索睾丸下降:犬类隐睾症的最新发现和未来展望。","authors":"Paulina Krzeminska","doi":"10.1159/000542245","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Canine cryptorchidism, manifested by an abnormal testicular position, poses significant health risks and reproductive challenges in affected males. Despite a high prevalence, estimated at up to 10% in the canine population, a comprehensive understanding of its pathogenesis remains elusive. Studies in human cryptorchids and knockout mice have identified key factors involved in testicular descent, including INSL3, RXFP2, and AR. To date, only three DNA variants, found in the RXFP2, HMGA2, and KAT6A genes, have been associated with canine cryptorchidism.</p><p><strong>Summary: </strong>This review briefly summarizes current knowledge on testicular descent and the factors that regulate this process, based on cryptorchidism in humans and mice. It also highlights recent findings related to canine cryptorchidism, focusing on the INSL3, HMGA2, and KAT6A genes. The most significant results are discussed, with an emphasis on the role of the epididymis in testicular descent. This report presents insights that may facilitate further research aiming to broaden our understanding of canine cryptorchidism pathogenesis.</p><p><strong>Key messages: </strong>DNA polymorphism in the KAT6A gene, associated with changes in global H3K9 acetylation, as well as the DNA methylation pattern in the INSL3 gene, suggest that further research should strongly focus on epigenetic modifications. In addition, the development of the epididymo-testicular junction and the link between cryptorchidism prevalence and dog size should be further investigated.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-13"},"PeriodicalIF":2.4000,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Exploring Testicular Descent: Recent Findings and Future Prospects in Canine Cryptorchidism.\",\"authors\":\"Paulina Krzeminska\",\"doi\":\"10.1159/000542245\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Canine cryptorchidism, manifested by an abnormal testicular position, poses significant health risks and reproductive challenges in affected males. Despite a high prevalence, estimated at up to 10% in the canine population, a comprehensive understanding of its pathogenesis remains elusive. Studies in human cryptorchids and knockout mice have identified key factors involved in testicular descent, including INSL3, RXFP2, and AR. To date, only three DNA variants, found in the RXFP2, HMGA2, and KAT6A genes, have been associated with canine cryptorchidism.</p><p><strong>Summary: </strong>This review briefly summarizes current knowledge on testicular descent and the factors that regulate this process, based on cryptorchidism in humans and mice. It also highlights recent findings related to canine cryptorchidism, focusing on the INSL3, HMGA2, and KAT6A genes. The most significant results are discussed, with an emphasis on the role of the epididymis in testicular descent. This report presents insights that may facilitate further research aiming to broaden our understanding of canine cryptorchidism pathogenesis.</p><p><strong>Key messages: </strong>DNA polymorphism in the KAT6A gene, associated with changes in global H3K9 acetylation, as well as the DNA methylation pattern in the INSL3 gene, suggest that further research should strongly focus on epigenetic modifications. In addition, the development of the epididymo-testicular junction and the link between cryptorchidism prevalence and dog size should be further investigated.</p>\",\"PeriodicalId\":49536,\"journal\":{\"name\":\"Sexual Development\",\"volume\":\" \",\"pages\":\"1-13\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-11-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sexual Development\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000542245\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"DEVELOPMENTAL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sexual Development","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000542245","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"DEVELOPMENTAL BIOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
背景 犬隐睾症表现为睾丸位置异常,对患病雄性犬的健康和生殖造成极大的威胁。尽管隐睾症的发病率很高,估计在犬类群体中高达 10%,但人们对其发病机理的全面了解却仍然遥遥无期。对人类隐睾和基因敲除小鼠的研究已经确定了参与睾丸下降的关键因素,包括 INSL3、RXFP2 和 AR。迄今为止,只有在 RXFP2、HMGA2 和 KAT6A 基因中发现的三种 DNA 变异与犬隐睾症有关。摘要 本综述以人类和小鼠的隐睾症为基础,简要总结了目前有关睾丸下降和调节这一过程的因素的知识。综述还重点介绍了与犬隐睾症有关的最新研究成果,重点关注 INSL3、HMGA2 和 KAT6A 基因。报告讨论了最重要的结果,重点是附睾在睾丸下降过程中的作用。本报告提出的见解可促进进一步的研究,从而拓宽我们对犬隐睾症发病机制的认识。关键信息 KAT6A 基因的 DNA 多态性与全局 H3K9 乙酰化的变化有关,INSL3 基因的 DNA 甲基化模式也表明,进一步的研究应重点关注表观遗传修饰。此外,还应进一步研究附睾-睾丸交界处的发育以及隐睾症发病率与狗的体型之间的联系。
Exploring Testicular Descent: Recent Findings and Future Prospects in Canine Cryptorchidism.
Background: Canine cryptorchidism, manifested by an abnormal testicular position, poses significant health risks and reproductive challenges in affected males. Despite a high prevalence, estimated at up to 10% in the canine population, a comprehensive understanding of its pathogenesis remains elusive. Studies in human cryptorchids and knockout mice have identified key factors involved in testicular descent, including INSL3, RXFP2, and AR. To date, only three DNA variants, found in the RXFP2, HMGA2, and KAT6A genes, have been associated with canine cryptorchidism.
Summary: This review briefly summarizes current knowledge on testicular descent and the factors that regulate this process, based on cryptorchidism in humans and mice. It also highlights recent findings related to canine cryptorchidism, focusing on the INSL3, HMGA2, and KAT6A genes. The most significant results are discussed, with an emphasis on the role of the epididymis in testicular descent. This report presents insights that may facilitate further research aiming to broaden our understanding of canine cryptorchidism pathogenesis.
Key messages: DNA polymorphism in the KAT6A gene, associated with changes in global H3K9 acetylation, as well as the DNA methylation pattern in the INSL3 gene, suggest that further research should strongly focus on epigenetic modifications. In addition, the development of the epididymo-testicular junction and the link between cryptorchidism prevalence and dog size should be further investigated.
期刊介绍:
Recent discoveries in experimental and clinical research have led to impressive advances in our knowledge of the genetic and environmental mechanisms governing sex determination and differentiation, their evolution as well as the mutations or endocrine and metabolic abnormalities that interfere with normal gonadal development. ‘Sexual Development’ provides a unique forum for this rapidly expanding field. Its broad scope covers all aspects of genetics, molecular biology, embryology, endocrinology, evolution and pathology of sex determination and differentiation in humans and animals. It publishes high-quality original research manuscripts, review articles, short reports, case reports and commentaries. An internationally renowned and multidisciplinary editorial team of three chief editors, ten prominent scientists serving as section editors, and a distinguished panel of editorial board members ensures fast and author-friendly editorial processing and peer reviewing.