title: Association between MT-CO3 haplotypes and high-altitude adaptation in Tibetan chicken.
abstract: Genetic mutation in cytochrome c oxidase subunit III gene (MT-CO3) could influence the kinetics of cytochrome c oxidase (COX), which catalyzes oxygen transport capacity in oxidative phosphorylation. However, the potential relationship between MT-CO3 variants and high-altitude adaptation remains poorly understood in Tibetan chicken. Here, we sequenced MT-CO3 gene of 125 Tibetan chickens and 144 Chinese domestic chickens in areas at a low elevation (below 1,000 m). Eight single nucleotide polymorphisms (SNPs) were detected; and five of them (m.10081A>G, m.10115G>A, m.10270G>A, m.10336A>G and m.10447C>T) shared by Tibetan chicken and lowland chicken with the significant difference in their respective allele frequencies. Nine haplotypes (H1-H9) were finally defined. Among them, haplotype H4 was positively associated with high-altitude adaptation whereas haplotypes H6, H7 and H8 had negative association with high-altitude adaptation. The Median-joining profile suggested that haplotype H5 had the ancestral position to the other haplotypes but had no significant relationship with high-altitude adaptation. However, there was only m.10081A>G mutation differed from haplotype H4 and H5. Results also suggested that chickens with A allele at m.10081A>G, had over 2.6 times than those with G allele in the probability of the ability to adapt hypoxia. It suggests that the synonymous mutation m.10081A>G may be a prerequisite for shaping high-altitude adaptation-specific haplotypes.
authors.affiliation: College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Sun
authors.forename: Hang
authors.initials: H
authors.lastname: Zhong
authors.forename: Shi-Yi
authors.initials: SY
authors.lastname: Chen
authors.forename: Yong-Gang
authors.initials: YG
authors.lastname: Yao
authors.forename: Yi-Ping
authors.initials: YP
authors.lastname: Liu
mesh_terms: D000064:Acclimatization / Q000235:genetics*; D000483:Alleles; D000531:Altitude; D000818:Animals; D002645:Chickens / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics* / Q000378:metabolism; D005787:Gene Frequency; D050259:Genes, Mitochondrial; D006239:Haplotypes; D020125:Mutation, Missense; D010085:Oxidative Phosphorylation; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D003576:Electron Transport Complex IV
keywords: ATP; Arg; Association analysis; COX; Gly; High-altitude adaptation; MT-CO1; MT-CO3 gene; NADH; NADH dehydrogenase subunit 3 gene; ND3; SNP; Tibetan chicken; Trp; adenosine triphosphate; arginine; cytochrome c oxidase; dNTP; denotes a truncated gene at the indicated side; deoxyribonucleoside triphosphate; glycine; mRNA; messenger RNA; mitochondrial DNA; mitochondrially encoded cytochrome c oxidase subunit I; mtDNA; reduced form of nicotinamide-adenine dinucleotide; single nucleotide polymorphism; tRNA; transfer RNA; tryptophan; ′ (prime)