Tissue-specific and functional loci analysis of CASP14 gene in the sheep horn

Xiaoning Lu, Guoqing Zhang, Hao Yang, Mingzhu Shan, Xiaoxu Zhang, Yuqin Wang, Junyan Bai, Zhangyuan Pan
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Abstract

Under the current context of intensive farming, small-horned animals are more suitable for large-scale breeding. The CASP14 gene, closely associated with skin and keratin formation, may influence horn size due to its link with skin development. This study comprehensively analyzed the tissue-specific expression of CASP14 using RNA-Seq data, identified functional sites through whole-genome sequencing (WGS), and investigated allele-specific expression (ASE) validated by KASP assays. Results showed significantly higher CASP14 expression in the scurred group com-pared to the SHE group, with pronounced expression in the skin. Interbreed comparisons also revealed elevated CASP14 levels in the scurred group. Analysis of potential functional sites indicated structural similarities in the CASP14 protein among horned mammals. Five ASE events were discovered, and intersecting these with SNPs and high fixation index loci (Fst > 0.05) identified three potential functional sites: 7941628, 7941817, and 7941830. The SNP site 7944295 was selected for T-test analysis and further validated through KASP assays, corroborating the role of CASP14 in sheep horn phenotypes. Our findings suggest that CASP14 plays a significant role in horn development, offering insights into breeding strategies for small-horned animals.
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羊角中 CASP14 基因的组织特异性和功能位点分析
在当前集约化养殖的背景下,小角动物更适合大规模养殖。CASP14基因与皮肤和角蛋白的形成密切相关,它与皮肤发育的关系可能会影响角的大小。本研究利用RNA-Seq数据全面分析了CASP14的组织特异性表达,通过全基因组测序(WGS)确定了其功能位点,并通过KASP检测验证了等位基因特异性表达(ASE)。结果显示,与SHE组相比,鳞屑组的CASP14表达量明显较高,且在皮肤中的表达量明显高于SHE组。种间比较也显示,毛发稀疏组的 CASP14 水平较高。对潜在功能位点的分析表明,有角哺乳动物的 CASP14 蛋白结构相似。发现了五个 ASE 事件,并将这些事件与 SNP 和高固定指数位点(Fst > 0.05)相交,确定了三个潜在的功能位点:7941628、7941817 和 7941830。我们选择了 SNP 位点 7944295 进行 T 检验分析,并通过 KASP 检测进一步验证了 CASP14 在羊角表型中的作用。我们的研究结果表明,CASP14 在绵羊角的发育过程中起着重要作用,为小角羊的育种策略提供了启示。
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