The distribution of four missense mutations in SPTBN5 gene across native Chinese breeds

Modern cattle belong to two subspecies, Bos taurus and Bos indicus. Since divergence, cattle types have accumulated different genetic variations, which have contributed to highly differentiated phenotypes. The mammalian inner ear possesses functional and morphological innovations that contribute to its unique hearing capacities. The spectrin beta, non-erythrocytic 5 (SPTBN5) gene has been shown to play an important function in the inner ear. Four missense mutations: rs522333459 (c.7232G > C:p.Cys2411Ser), rs718838405 (c.6568A > C:p.Met2190Leu), rs516536785 (c.6283C > T:p.Leu2095Phe) and rs480278206 (c.4201T > C:p.Cys1401Arg) were identified in the bovine SPTBN5 gene by whole genome resequencing (http://animal.nwsuaf.edu.cn/code/index.php/BosVar), which might be candidate mutations related with hearing of both taurine and indicine cattle. In our study, PCR and DNA sequencing were used to explore the allele frequencies of four mutations of 971 individuals belonging to 38 native Chinese cattle breeds. We find that four mutant alleles showing strong geographic distribution, consisting with the ancestry distribution of taurine and indicine in China. In addition, we identified four mutations of SPTBN5 were diverged in taurine and indicine cattle showing signatures of adaptive evolution in two subspecies, which might participate in bovine inner ear development.