Li Hao, Du Xiaolong, Li Xinyue, Feng Pingjie, Chu Mingxing, Jin Yi, Pan Zhangyuan
Engineering Research Center of North-East Cold Region Beef Cattle Science & Technology Innovation, Ministry of Education, College of Agriculture, Yanbian University, Yanji, China.
Key Laboratory of Animal Genetics, Breeding and Reproduction of Ministry of Agriculture and Rural Affairs, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.
Front Genet. 2023 Sep 20;14:1239979. doi: 10.3389/fgene.2023.1239979. eCollection 2023.
In humans, variation of the gene may cause cranial exostosis, which is similar to "human horn," but the function of the gene in sheep is still unknown. Tissue expression patterns and potential functional loci analysis of the gene could help understand its function in sheep horn. In this study, we first identified tissue, sex, breed, and species-specific expression of the gene in sheep based on the RNA-sequencing (RNA-seq) data. Second, the potential functional sites of the gene were analyzed by using the whole genome sequencing (WGS) data of 99 sheep from 10 breeds. Last, the allele-specific expression of the gene was explored. Our result showed the gene has significantly higher expression in the big horn than in the small horn, and the gene has high expression in the horn and skin, suggesting that this gene may be related to the horn. The PCA results show that the region around the can distinguish horned and hornless groups to some extent, further indicating that the may be related to horns. When compared with other species, we find seven ruminate specific amino acid sites of the ATP7A protein, which can be important to the ruminate horn. By analyzing WGS, we found 6 SNP sites with significant differences in frequency in horned and hornless populations, and most of these variants are present in the intron. But we still find some potential functional sites, including three missenses, three synonymous mutations, and four Indels. Finally, by combining the RNA-seq and WGS functional loci results, we find three mutations that showed allele-specific expression between big and small horns. This study shows that the gene in sheep may be related to horn size, and several potential functional sites we identified here can be useful molecular markers for sheep horn breeding.
在人类中，该基因的变异可能导致颅骨外生骨疣，类似于“人角”，但该基因在绵羊中的功能仍不清楚。对该基因的组织表达模式和潜在功能位点进行分析，有助于了解其在绵羊角中的功能。在本研究中，我们首先基于RNA测序（RNA-seq）数据确定了该基因在绵羊中的组织、性别、品种和物种特异性表达。其次，利用来自10个品种的99只绵羊的全基因组测序（WGS）数据，分析了该基因的潜在功能位点。最后，探索了该基因的等位基因特异性表达。我们的结果表明，该基因在大角中的表达显著高于小角，且在角和皮肤中高表达，表明该基因可能与角有关。主成分分析（PCA）结果表明，该基因周围区域在一定程度上可以区分有角和无角群体，进一步表明该基因可能与角有关。与其他物种相比，我们发现了ATP7A蛋白的七个反刍动物特异性氨基酸位点，这对角反刍动物可能很重要。通过分析WGS，我们在有角和无角群体中发现了6个频率有显著差异的单核苷酸多态性（SNP）位点，这些变异大多存在于内含子中。但我们仍然发现了一些潜在的功能位点，包括三个错义突变、三个同义突变和四个插入缺失。最后，通过结合RNA-seq和WGS功能位点结果，我们发现了三个在大角和小角之间表现出等位基因特异性表达的突变。本研究表明，绵羊中的该基因可能与角的大小有关，我们在此鉴定的几个潜在功能位点可作为绵羊角育种的有用分子标记。
