PDF(Pubmed)
Abstract：
In humans, variation of the ATP7A gene may cause cranial exostosis, which is similar to \"human horn,\" but the function of the ATP7A gene in sheep is still unknown. Tissue expression patterns and potential functional loci analysis of the ATP7A gene could help understand its function in sheep horn. In this study, we first identified tissue, sex, breed, and species-specific expression of the ATP7A gene in sheep based on the RNA-sequencing (RNA-seq) data. Second, the potential functional sites of the ATP7A gene were analyzed by using the whole genome sequencing (WGS) data of 99 sheep from 10 breeds. Last, the allele-specific expression of the ATP7A gene was explored. Our result showed the ATP7A gene has significantly higher expression in the big horn than in the small horn, and the ATP7A 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 ATP7A can distinguish horned and hornless groups to some extent, further indicating that the ATP7A 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 ATP7A 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.
摘要：
在人类中,ATP7A基因的变异可能导致颅骨外生症，类似于“人类号角”，“但ATP7A基因在绵羊中的功能仍然未知。ATP7A基因的组织表达模式和潜在的功能基因座分析可以帮助了解其在羊角中的功能。在这项研究中,我们首先确定了组织，性别,品种,和基于RNA测序(RNA-seq)数据的ATP7A基因在绵羊中的物种特异性表达。第二,使用来自10个品种的99只绵羊的全基因组测序（WGS）数据分析了ATP7A基因的潜在功能位点。最后,研究了ATP7A基因的等位基因特异性表达。我们的结果表明ATP7A基因在大角中的表达明显高于在小角中的表达，ATP7A基因在角和皮肤中高表达，这表明这个基因可能与角有关.PCA结果表明，ATP7A周围的区域可以在一定程度上区分有角和无角组，进一步表明ATP7A可能与角有关。与其他物种相比，我们发现ATP7A蛋白的七个反刍动物特异性氨基酸位点，这对反刍动物的角很重要。通过分析WGS，我们发现了6个SNP位点，在有角和无角种群中频率存在显着差异，并且这些变体中的大多数存在于内含子中。但是我们仍然发现了一些潜在的功能性网站，包括三个错误，三个同义突变,和四个indels。最后,通过结合RNA-seq和WGS功能基因座结果，我们发现了三个突变，显示大角和小角之间的等位基因特异性表达。这项研究表明，绵羊的ATP7A基因可能与角大小有关，我们在这里确定的几个潜在的功能位点可以作为羊角育种的有用分子标记。
