InDels of ewe functional genes and their association with follicular cysts

IF 1.6 3区农林科学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE

Small Ruminant Research Pub Date : 2025-07-07 DOI:10.1016/j.smallrumres.2025.107569

Haotian Wang , Chang Liu , Tianwen Zhang , Qirenggui Sa , Baodong Li , Chunlei Zhu , Guangjun Zhao , Haishuan Huang , Jinghu Han , Shucai Liu , Ruixia Zhao

{"title":"InDels of ewe functional genes and their association with follicular cysts","authors":"Haotian Wang , Chang Liu , Tianwen Zhang , Qirenggui Sa , Baodong Li , Chunlei Zhu , Guangjun Zhao , Haishuan Huang , Jinghu Han , Shucai Liu , Ruixia Zhao","doi":"10.1016/j.smallrumres.2025.107569","DOIUrl":null,"url":null,"abstract":"<div><div>Reproductive diseases, such as follicular cysts, inhibit ovarian growth and development, leading to frequent dysfunction and ultimately causing infertility. Recently, several functional genes in ewes have attracted considerable attention owing to their effects on reproductive performance by regulating ovarian folliculogenesis. Insertion/Deletion (InDel) mutations are valuable and efficient molecular markers for identifying and diagnosing diseases. However, the association between InDel mutations and follicular cysts in ewes remains unclear. Therefore, this study aimed to explore InDel mutations in the functional genes of ewes and analyze their potential association with follicular cysts. The results revealed that, among ten functional genes examined, only one InDel mutation locus was identified per gene: InDel-1 to InDel-10, including PLAG1-rs1089544110 (InDel-1), LTBP1-rs1089171651 (InDel-2), THBS1-rs1092852024 (InDel-3), SMAD4-rs595529487 (InDel-4), BMPR1B-rs597007496rs597007496 (InDel-5), FRZB-rs3481381677 (InDel-6), LEPR-rs1090790500 (InDel-7), GHSR-rs5453109152 (InDel-8), LHX3-rs592644839 (InDel-9), and PRND-rs3496200919 (InDel-10). These were analyzed among 240 follicular cyst samples and 432 healthy samples from Aohan fine-wool sheep. Among them, only GHSR-rs5453109152 (InDel-8) was significantly associated with follicular cysts in ewes. The frequencies of genotypes AB, BB, and alleles A and B in InDel-8 showed significant differences between follicular cyst samples and healthy controls. This finding suggests that InDel-8 could serve as a valuable molecular marker for breeding disease-resistant ewes and managing reproductive disorders in Chinese sheep farming.</div></div>","PeriodicalId":21758,"journal":{"name":"Small Ruminant Research","volume":"251 ","pages":"Article 107569"},"PeriodicalIF":1.6000,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Small Ruminant Research","FirstCategoryId":"97","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0921448825001427","RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"AGRICULTURE, DAIRY & ANIMAL SCIENCE","Score":null,"Total":0}

引用次数: 0

Abstract

Reproductive diseases, such as follicular cysts, inhibit ovarian growth and development, leading to frequent dysfunction and ultimately causing infertility. Recently, several functional genes in ewes have attracted considerable attention owing to their effects on reproductive performance by regulating ovarian folliculogenesis. Insertion/Deletion (InDel) mutations are valuable and efficient molecular markers for identifying and diagnosing diseases. However, the association between InDel mutations and follicular cysts in ewes remains unclear. Therefore, this study aimed to explore InDel mutations in the functional genes of ewes and analyze their potential association with follicular cysts. The results revealed that, among ten functional genes examined, only one InDel mutation locus was identified per gene: InDel-1 to InDel-10, including PLAG1-rs1089544110 (InDel-1), LTBP1-rs1089171651 (InDel-2), THBS1-rs1092852024 (InDel-3), SMAD4-rs595529487 (InDel-4), BMPR1B-rs597007496rs597007496 (InDel-5), FRZB-rs3481381677 (InDel-6), LEPR-rs1090790500 (InDel-7), GHSR-rs5453109152 (InDel-8), LHX3-rs592644839 (InDel-9), and PRND-rs3496200919 (InDel-10). These were analyzed among 240 follicular cyst samples and 432 healthy samples from Aohan fine-wool sheep. Among them, only GHSR-rs5453109152 (InDel-8) was significantly associated with follicular cysts in ewes. The frequencies of genotypes AB, BB, and alleles A and B in InDel-8 showed significant differences between follicular cyst samples and healthy controls. This finding suggests that InDel-8 could serve as a valuable molecular marker for breeding disease-resistant ewes and managing reproductive disorders in Chinese sheep farming.

查看原文本刊更多论文

母羊功能基因的克隆及其与卵泡囊肿的关系

生殖疾病，如卵泡囊肿，抑制卵巢生长发育，导致频繁功能障碍，最终导致不孕。近年来，母羊体内的几个功能基因因其通过调节卵巢卵泡发生而影响生殖性能而引起了人们的广泛关注。插入/删除（InDel）突变是识别和诊断疾病有价值和有效的分子标记。然而，InDel突变与母羊卵泡囊肿之间的关系尚不清楚。因此，本研究旨在探讨母羊功能基因中的InDel突变，并分析其与卵泡囊肿的潜在关联。结果表明，在检测的10个功能基因中，每个InDel-1 ~ InDel-10基因仅鉴定出1个InDel突变位点，包括PLAG1-rs1089544110 （InDel-1）、LTBP1-rs1089171651 （InDel-2）、THBS1-rs1092852024 （InDel-3）、SMAD4-rs595529487 （InDel-4）、BMPR1B-rs597007496rs597007496 （InDel-5）、FRZB-rs3481381677 （InDel-6）、LEPR-rs1090790500 （InDel-7）、GHSR-rs5453109152 （InDel-8）、LHX3-rs592644839 （InDel-9）和PRND-rs3496200919 （InDel-10）。对240份敖汉细毛羊卵泡囊肿样本和432份健康样本进行了分析。其中，只有GHSR-rs5453109152 （InDel-8）与母羊卵泡囊肿显著相关。InDel-8基因型AB、BB和等位基因A、B的频率在滤泡囊肿样本和健康对照组之间存在显著差异。这一发现提示InDel-8可作为一种有价值的分子标记，用于培育抗病母羊和管理中国绵羊养殖业的繁殖障碍。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Small Ruminant Research 农林科学-奶制品与动物科学

CiteScore

3.10

自引率

11.10%

发文量

210

审稿时长

12.5 weeks

期刊介绍： Small Ruminant Research publishes original, basic and applied research articles, technical notes, and review articles on research relating to goats, sheep, deer, the New World camelids llama, alpaca, vicuna and guanaco, and the Old World camels. Topics covered include nutrition, physiology, anatomy, genetics, microbiology, ethology, product technology, socio-economics, management, sustainability and environment, veterinary medicine and husbandry engineering.