PMID- 30381735 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20221118 IS - 1011-2367 (Print) IS - 1976-5517 (Electronic) IS - 1011-2367 (Linking) VI - 32 IP - 12 DP - 2019 Dec 1 TI - Population genetic variations of the MMP3 gene revealed hypoxia adaptation in domesticated yaks (Bos grunniens). PG - 1801-1808 LID - 10.5713/ajas.17.0706 [doi] AB - OBJECTIVE: 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-1alpha (HIF-1alpha) 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. FAU - Ding, Xuezhi AU - Ding X AD - Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China. FAU - Yang, Chao AU - Yang C AD - Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China. AD - CAS Key Laboratory for Agro-Ecological Processes in Subtropical Region, National Engineering Laboratory for Pollution Control and Waste Utilization in Livestock and Poultry Production, South -Central Experimental Station of Animal Nutrition and Feed Science in Ministry of Agriculture, Hunan Provincial Engineering Research Center for Healthy Livestock and Poultry Production Institute of Subtropical Agriculture, The Chinese Academy of Sciences, Changsha 410125, China. FAU - Bao, Pengjia AU - Bao P AD - Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China. FAU - Wu, Xiaoyun AU - Wu X AD - Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China. FAU - Pei, Jie AU - Pei J AD - Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China. FAU - Yan, Ping AU - Yan P AD - Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China. FAU - Guo, Xian AU - Guo X AD - Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China. LA - eng PT - Journal Article DEP - 20181029 PL - Korea (South) TA - Asian-Australas J Anim Sci JT - Asian-Australasian journal of animal sciences JID - 9884245 PMC - PMC6819682 OTO - NOTNLM OT - Hypoxia Adaptation OT - Matrix metalloproteinases-3 (MMP3) OT - Polymorphism OT - Yak COIS- CONFLICT OF INTEREST We certify that there is no conflict of interest with any financial organization regarding the material discussed in the manuscript. EDAT- 2018/11/02 06:00 MHDA- 2018/11/02 06:01 PMCR- 2019/12/01 CRDT- 2018/11/02 06:00 PHST- 2017/09/22 00:00 [received] PHST- 2018/10/18 00:00 [accepted] PHST- 2018/11/02 06:00 [entrez] PHST- 2018/11/02 06:00 [pubmed] PHST- 2018/11/02 06:01 [medline] PHST- 2019/12/01 00:00 [pmc-release] AID - ajas.17.0706 [pii] AID - ajas-17-0706 [pii] AID - 10.5713/ajas.17.0706 [doi] PST - ppublish SO - Asian-Australas J Anim Sci. 2019 Dec 1;32(12):1801-1808. doi: 10.5713/ajas.17.0706. Epub 2018 Oct 29.