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Asian-Australas J Anim Sci > Accepted Articles
DOI: https://doi.org/10.5713/ajas.17.0706    [Accepted] Published online October 29, 2018.
Population genetic variations of the MMP3 gene revealed hypoxia adaptation in domesticated yaks (Bos grunniens)
Xuezhi Ding1,*, Chao Yang1, Pengjia Bao1, Xiaoyun Wu1, Jie Pei1, Ping Yan1, Xian Guo1
1Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, P.R. China
2State Key Laboratory of Pastoral Agricultural Ecosystem, College of Pastoral Agriculture Science and Technology, Lanzhou University, Lanzhou 730020, China
Correspondence:  Xuezhi Ding, Tel: +86-931-2115257, Fax: +86-931-2115196, Email: dingxuezhi@caas.cn
Received: 22 September 2017   • Revised: 6 January 2018   • Accepted: 18 October 2018
As an iconic symbol of Qinghai-Tibetan Plateau and of high altitude, yak is subjected to hypoxic conditions that challenge aerobic metabolism. Matrix metalloproteinases-3 (MMP3) is assumed to be a key target gene of hypoxia-inducible factor-1α (HIF-1α) that function as a master regulator of the cellular response to hypoxia. Therefore, the aim of this investigation was to identify the DNA polymorphism of MMP3 gene in domestic yak and to explore its possible association with high-altitude adaptation.
The single-nucleotide polymorphisms (SNPs) genotyping and mutations scanning at the MMP3 locus were conducted in total of 344 individuals from four domestic Chinese yak breeds resident at different altitudes on the Qinghai-Tibetan Plateau, using high-resolution melting analysis(HRM)and DNA sequencing techniques.
The novel of SNPs rs2381 A→G and rs4331 C→G were identified in intron Ⅴ and intron Ⅶ of MMP3, respectively. Frequencies of the GG genotype and the G allele of SNP rs2381 A→G observed in high-altitude Pali yak were significantly higher than that of the other yak breeds resident at middle or low altitude (p < 0.01). No significant difference was mapped for SNP rs4331 C→G in the yak population (p > 0.05). Haplotype GC was the dominant among the 4 yak breeds, and Pearson correlation analysis showed that the frequencies of GC was significantly lower in GN (Ganan), DT (Datong) and WY (Tianzhu white) yaks compared with Pali yak (PL). The two SNPs were in moderate linkage disequilibrium in high-altitude yaks (PL) but not in middle-altitude (GN, DT) and low-altitude (WY) yaks.
These results indicate that MMP3 may have been subjected to positive selection in yak, especially that the SNP rs2381 A→G mutation and GC haplotypes might contribute to adaptation for yak in high-altitude environments.
Keywords: Yak; Matrix metalloproteinases-3 (MMP3); Polymorphism; Hypoxia Adaptation
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