A 76-base pair duplication within the enhancer region of the HMX1 gene causes sheep microtia
文献类型： 外文期刊
作者： Zhang, Lihua 1 ; Liang, Long 2 ; Kasimu, Hailati 2 ; Li, Wenrong 2 ; Liu, Mingjun 2 ; Li, Haiying 1 ; He, Sangang 2 ;
作者机构： 1.Xinjiang Agr Univ, Coll Anim Sci, Urumqi 830052, Xinjiang, Peoples R China
2.Xinjiang Acad Anim Sci, Key Lab Ruminant Genet Breeding & Reprod, Minist Agr, Key Lab Anim Biotechnol,Xinjiang Inst Biotechnol, Urumqi 830011, Xinjiang, Peoples R China
关键词： Ovine; Genome-Wide Association; Gene Edit; Enhancer; Microtia
期刊名称：GENE （ 影响因子：3.5； 五年影响因子：3.3 ）
ISSN： 0378-1119
年卷期： 2024 年 909 卷
页码：
收录情况： SCI
摘要： Sheep congenital microtia is characterized by underdeveloped ears and provides an ideal basis for studying human microtia. This study identified the causal mutation and regulatory mechanisms underlying this disorder. Whole-genome association analysis was conducted using 23 ear tissue samples from sheep with microtia and 28 samples from normal-eared sheep. A significant correlation was found between microtia and a 76-base pair duplication in the enhancer region of the HMX1 gene. Further analysis of offspring phenotypes confirmed an autosomal dominant inheritance pattern. Genotypic analysis showed that individuals that are homozygous for this duplication were earless, heterozygous individuals exhibited shortened ears, and wild-type individuals had normal ears. Moreover, luciferase assays confirmed that this duplication increased HMX1 gene expression, and duplication knock-in mice also exhibited shorter and narrower external ears compared to wild-type mice. Transcriptomic analysis further demonstrated that this duplication enhanced HMX1 gene expression in animal models. This study characterized the causal regulatory mutation underlying sheep microtia.
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