Genetic Variation of EPAS1 Gene in Tibetan Pigs and Three Low-Altitude Pig Breeds in China

doi:10.1016/S2095-3119(13)60577-8

Journal of Integrative Agriculture ›› 2014, Vol. 13 ›› Issue (9): 1990-1998.DOI: 10.1016/S2095-3119(13)60577-8

Genetic Variation of EPAS1 Gene in Tibetan Pigs and Three Low-Altitude Pig Breeds in China

DONG Kun-zhe, KANG Ye, YAO Na, SHU Guo-tao, ZUO Qing-qing, ZHAO Qian-jun , MA Yue-hui

1、Key Laboratory of Farm Animal Genetic Resources and Utilization, Ministry of Agriculture/Institute of Animal Science, Chinese Academy of
Agricultural Sciences, Beijing 100193, P.R.China
2、College of Animal Science and Technology, Yunnan Agricultural University, Kunming 650201, P.R.China

收稿日期:2013-05-17 出版日期:2014-09-22 发布日期:2014-09-24
通讯作者: MA Yue-hui, Tel/Fax: +86-10-62813463, E-mail: yuehui_ma@263.net
作者简介:DONG Kun-zhe, Mobile: 13811208140, E-mail: dkzhe1987@163.com
基金资助:
This work was supported by the National Natural Science Foundation of China (31272403), the Determination of Molecular Characterization for Genetically Modified Organism, China (2013ZX08012-002), and the Livestock and Poultry Sharing Platform in China (2013).

Genetic Variation of EPAS1 Gene in Tibetan Pigs and Three Low-Altitude Pig Breeds in China

DONG Kun-zhe, KANG Ye, YAO Na, SHU Guo-tao, ZUO Qing-qing, ZHAO Qian-jun , MA Yue-hui

1、Key Laboratory of Farm Animal Genetic Resources and Utilization, Ministry of Agriculture/Institute of Animal Science, Chinese Academy of
Agricultural Sciences, Beijing 100193, P.R.China
2、College of Animal Science and Technology, Yunnan Agricultural University, Kunming 650201, P.R.China

Received:2013-05-17 Online:2014-09-22 Published:2014-09-24
Contact: MA Yue-hui, Tel/Fax: +86-10-62813463, E-mail: yuehui_ma@263.net
About author:DONG Kun-zhe, Mobile: 13811208140, E-mail: dkzhe1987@163.com
Supported by:
This work was supported by the National Natural Science Foundation of China (31272403), the Determination of Molecular Characterization for Genetically Modified Organism, China (2013ZX08012-002), and the Livestock and Poultry Sharing Platform in China (2013).

摘要/Abstract

摘要： 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.

关键词: pig , EPAS1 gene , SNP , haplotype , nature selection

Abstract: 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.

Key words: pig , EPAS1 gene , SNP , haplotype , nature selection

DONG Kun-zhe, KANG Ye, YAO Na, SHU Guo-tao, ZUO Qing-qing, ZHAO Qian-jun , MA Yue-hui. Genetic Variation of EPAS1 Gene in Tibetan Pigs and Three Low-Altitude Pig Breeds in China[J]. Journal of Integrative Agriculture, 2014, 13(9): 1990-1998.

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Genetic Variation of EPAS1 Gene in Tibetan Pigs and Three Low-Altitude Pig Breeds in China

Genetic Variation of EPAS1 Gene in Tibetan Pigs and Three Low-Altitude Pig Breeds in China

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