Targeted resequencing of GWAS loci reveals novel genetic variants for milk production traits

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• 作者：Li Jiang (37)
  Xuan Liu (37)
  Jie Yang (37)
  Haifei Wang (37)
  Jicai Jiang (37)
  Lili Liu (37)
  Sang He (37)
  Xiangdong Ding (37)
  Jianfeng Liu (37)
  Qin Zhang (37)
  
  37. National Engineering Laboratory for Animal Breeding ; Key Laboratory of Animal Genetics ; Breeding and Reproduction ; Ministry of Agriculture of China ; College of Animal Science and Technology ; China Agricultural University ; Beijing ; 100193 ; China
  
• 关键词：Genetic variants ; Milk production traits ; Targeted resequencing
• 刊名：BMC Genomics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：15
• 期：1
• 全文大小：548 KB
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• 刊物主题：Life Sciences, general; Microarrays; Proteomics; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics;
• 出版者：BioMed Central
• ISSN：1471-2164

文摘

Background Genome wide association study (GWAS) has been proven to be a powerful tool for detecting genomic variants associated with complex traits. However, the specific genes and causal variants underlying these traits remain unclear. Results Here, we used target-enrichment strategy coupled with next generation sequencing technique to study target regions which were found to be associated with milk production traits in dairy cattle in our previous GWAS. Among the large amount of novel variants detected by targeted resequencing, we selected 200 SNPs for further association study in a population consisting of 2634 cows. Sixty six SNPs distributed in 53 genes were identified to be associated significantly with on milk production traits. Of the 53 genes, 26 were consistent with our previous GWAS results. We further chose 20 significant genes to analyze their mRNA expression in different tissues of lactating cows, of which 15 were specificly highly expressed in mammary gland. Conclusions Our study illustrates the potential for identifying causal mutations for milk production traits using target-enrichment resequencing and extends the results of GWAS by discovering new and potentially functional mutations.