Abdullah Muhammad, Rehman Muhammad Saif-Ur, Rehman Muhammad Shah Nawaz-Ul, AlKahtane Abdullah A, Al-Hazani Tahani Mohamed, Hassan Faiz-Ul, Rehman Saif Ur
Institute of Animal and Dairy Sciences, University of Agriculture, Faisalabad 38040, Pakistan.
Centre for Agricultural Biochemistry and Biotechnology, University of Agriculture, Faisalabad 38040, Pakistan.
Animals (Basel). 2023 Jul 8;13(14):2246. doi: 10.3390/ani13142246.
The Sox gene family constitutes transcription factors with a conserved high mobility group box (HMG) that regulate a variety of developmental processes, including sex differentiation, neural, cartilage, and early embryonic development. In this study, we systematically analyzed and characterized the 20 Sox genes from the whole buffalo genome, using comparative genomic and evolutionary analyses. All the buffalo Sox genes were divided into nine sub-groups, and each gene had a specific number of exons and introns, which contributed to different gene structures. Molecular phylogeny revealed more sequence similarity of buffalo Sox genes with those of cattle. Furthermore, evolutionary analysis revealed that the HMG domain remained conserved in the all members of the Sox gene family. Similarly, all the genes are under strong purifying selection pressure; seven segmental duplications occurred from 9.65 to 21.41 million years ago (MYA), and four potential recombination breakpoints were also predicted. Mutational analysis revealed twenty non-synonymous mutations with potential effects on physiological functions, including embryonic development and cell differentiation in the buffalo. The present study provides insights into the genetic architecture of the Sox gene family in buffalo, highlights the significance of mutations, and provides their potential utility for marker-assisted selection for targeted genetic improvement in buffalo.
Sox基因家族构成了具有保守的高迁移率族盒（HMG）的转录因子，这些转录因子调控多种发育过程，包括性别分化、神经、软骨和早期胚胎发育。在本研究中，我们利用比较基因组学和进化分析，对水牛全基因组中的20个Sox基因进行了系统分析和特征描述。所有水牛Sox基因被分为9个亚组，每个基因具有特定数量的外显子和内含子，这导致了不同的基因结构。分子系统发育分析表明，水牛Sox基因与牛的Sox基因具有更高的序列相似性。此外，进化分析表明，HMG结构域在Sox基因家族的所有成员中都保持保守。同样，所有基因都受到强烈的纯化选择压力；在965万至2141万年前发生了7次片段重复，还预测到4个潜在的重组断点。突变分析揭示了20个对生理功能有潜在影响的非同义突变，包括水牛的胚胎发育和细胞分化。本研究为水牛Sox基因家族的遗传结构提供了见解，突出了突变的重要性，并为水牛靶向遗传改良的标记辅助选择提供了潜在的应用价值。
