Endothelial PAS domain protein 1(EPAS1), also called hypoxia-inducible factor-2, is a key regulatory factor of hypoxic responses and plays an essential role in high-altitude adaptation in mammalian species. In this ...Endothelial PAS domain protein 1(EPAS1), also called hypoxia-inducible factor-2, is a key regulatory factor of hypoxic responses and plays an essential role in high-altitude adaptation in mammalian species. In this study, polymorphisms of EPAS1 were detected in 217 individuals from 2 Tibetan pig populations and 3 low-altitude pig breeds by DNA pooling, PCR-SSCP, PCR-RFLP and DNA sequencing methods. A total of 14 synonymous polymorphisms were identified in the coding region. The analysis suggested that SNP1(G963A), SNP7(C1632T), SNP10(G1929A) and SNP11(G1947A) showed potential association with high-altitude environment because of their particular variation patterns in Tibetan pigs. Linkage disequilibrium(LD) of these SNPs was analyzed. One common LD block including 5 SNPs clustering in exon 12 was identified in all studied pig populations. Haplotype H1(AGGTC) in LD block was dominant in Tibetan pigs(76.6 and 74.2% in Linzhi(LZ) and Chayu(CY) pigs, respectively) and segregated at higher frequency than that in low-altitude pig breeds(52.3, 58.7 and 56.2% in Wuzhishan(WZS), Min(M) and Laiwu(LW) pigs, respectively), indicating that H1 may relate to adaptation to high altitude in Tibetan pigs. These findings raise hope that EPAS1 gene can be a candidate gene that involved in adaptation of high altitude in Tibetan pigs.展开更多
基金supported by the National Natural Science Foundation of China(31272403)the Determination of Molecular Characterization for Genetically Modified Organism,China(2013ZX08012-002)the Livestock and Poultry Sharing Platform in China(2013)
文摘Endothelial PAS domain protein 1(EPAS1), also called hypoxia-inducible factor-2, is a key regulatory factor of hypoxic responses and plays an essential role in high-altitude adaptation in mammalian species. In this study, polymorphisms of EPAS1 were detected in 217 individuals from 2 Tibetan pig populations and 3 low-altitude pig breeds by DNA pooling, PCR-SSCP, PCR-RFLP and DNA sequencing methods. A total of 14 synonymous polymorphisms were identified in the coding region. The analysis suggested that SNP1(G963A), SNP7(C1632T), SNP10(G1929A) and SNP11(G1947A) showed potential association with high-altitude environment because of their particular variation patterns in Tibetan pigs. Linkage disequilibrium(LD) of these SNPs was analyzed. One common LD block including 5 SNPs clustering in exon 12 was identified in all studied pig populations. Haplotype H1(AGGTC) in LD block was dominant in Tibetan pigs(76.6 and 74.2% in Linzhi(LZ) and Chayu(CY) pigs, respectively) and segregated at higher frequency than that in low-altitude pig breeds(52.3, 58.7 and 56.2% in Wuzhishan(WZS), Min(M) and Laiwu(LW) pigs, respectively), indicating that H1 may relate to adaptation to high altitude in Tibetan pigs. These findings raise hope that EPAS1 gene can be a candidate gene that involved in adaptation of high altitude in Tibetan pigs.