Wang Jie, Shi Yu, Elzo Mauricio A, Dang Shuzhang, Jia Xianbo, Lai Songjia
a College of Animal Science and Technology, Sichuan Agricultural University , Chengdu , Sichuan , China.
b Department of Animal Sciences , University of Florida , Gainesville , FL , USA.
Mitochondrial DNA A DNA Mapp Seq Anal. 2018 Apr;29(3):385-393. doi: 10.1080/24701394.2017.1285292. Epub 2017 Mar 17.
ATP synthase 8 (ATP8) and ATPase synthase 6 (ATP6) play an important role in mitochondrial ATPase assembly. Mutations in either of these units could affect the ATP processing and the respiration chain in mitochondria. To find out if there were differences in gene diversity between Tibetan yaks and domestic cattle, we sequenced the ATP8 and ATP6 genes in 66 Tibetan yaks and 81 domestic cattle. We identified 20 SNPs in the ATP8 gene and 60 SNPs in the ATP6 gene. Ten SNPs detected in ATP8 were probably positively associated with high-altitude adaptation, of which SNPs m.8164 G > A, m.8210 G > A, m.8231 C > T and m. 8249 C > T resulted in amino acid changes. Similarly, SNPs m.8308A > G, m.8370A > C, m.8514G > A of ATP6 also appeared to be associated with high-altitude adaptability. Specifically, m.8308 A > G, located in the overlap region, might bring in a conserved region found in cytochrome b561 which play an important role in iron regulation, thus it might help the Tibetan yaks with this mutation to utilize rare oxygen efficiently. Considering all mutations, three of eight haplotypes identified in gene ATP8 were present only in Tibetan yaks, and six (H3 to H8) out of 21 haplotypes (H1 to H21) in gene ATP6 were restricted to Tibetan yaks. Haplotypes present only in Tibetan yaks could be positively associated with high-altitude adaptation.
ATP合酶8（ATP8）和ATP合酶6（ATP6）在线粒体ATP酶组装中起重要作用。这两个单元中任何一个发生突变都可能影响线粒体中的ATP加工和呼吸链。为了弄清楚藏牦牛和家牛之间的基因多样性是否存在差异，我们对66头藏牦牛和81头家牛的ATP8和ATP6基因进行了测序。我们在ATP8基因中鉴定出20个单核苷酸多态性（SNP），在ATP6基因中鉴定出60个SNP。在ATP8中检测到的10个SNP可能与高原适应呈正相关，其中SNP m.8164 G > A、m.8210 G > A、m.8231 C > T和m.8249 C > T导致了氨基酸变化。同样，ATP6的SNP m.8308A > G、m.8370A > C、m.8514G > A也似乎与高原适应性有关。具体而言，位于重叠区域的m.8308 A > G可能引入了细胞色素b561中发现的一个保守区域，该区域在铁调节中起重要作用，因此它可能有助于具有这种突变的藏牦牛有效利用稀缺氧气。考虑到所有突变，在ATP8基因中鉴定出的8个单倍型中有3个仅存在于藏牦牛中，在ATP6基因的21个单倍型（H1至H21）中有6个（H3至H8）仅限于藏牦牛。仅存在于藏牦牛中的单倍型可能与高原适应呈正相关。
