Detection of genetic association and functional polymorphisms of UGDH affecting milk production trait in Chinese Holstein cattle

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• 作者：Qing Xu (2)
  Gui Mei (3)
  Dongxiao Sun (1)
  Qin Zhang (1)
  Yuan Zhang (1)
  Cengceng Yin (1)
  Huiyong Chen (1)
  Xiangdong Ding (1)
  Jianfeng Liu (1)
  
• 关键词：Dairy cattle ; BTA6 ; Positional candidate ; Milk traits ; UGDH ; Function validation
• 刊名：BMC Genomics
• 出版年：2012
• 出版时间：December 2012
• 年：2012
• 卷：13
• 期：1
• 全文大小：345KB
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• 作者单位：Qing Xu (2)
  Gui Mei (3)
  Dongxiao Sun (1)
  Qin Zhang (1)
  Yuan Zhang (1)
  Cengceng Yin (1)
  Huiyong Chen (1)
  Xiangdong Ding (1)
  Jianfeng Liu (1)
  
  2. Institute of Life Science and Biotechnology, Beijing Jiaotong University, Beijing, 100044, China
  3. Institute of Animal Science, Guangdong Academy of Agricultural Sciences, State Key Laboratory of Livestock and Poultry Breeding, Guangzhou, 510640, China
  1. Department of Animal Genetics and Breeding, College of Animal Science and Technology, Key Laboratory of Animal Genetics and Breeding of Ministry of Agriculture, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China
  

文摘

Background We previously localized a quantitative trait locus (QTL) on bovine chromosome 6 affecting milk production traits to a 1.5-Mb region between BMS483 and MNB-209 via genome scanning followed by fine mapping. Results Totally 15 genes were mapped within such linkage region through bioinformatic analysis of the cattle-human comparative map and bovine genome assembly. Of them, the UDP-glucose dehydrogenase (UGDH) was suggested as a potential positional candidate gene for milk production traits based on its corresponding physiological and biochemical functions and genetic effects. By sequencing all the coding exons and the untranslated regions in UGDH with pooled DNA of 8 sires represented the separated families detected in our previous studies, a total of ten SNPs were identified and genotyped in 1417 Holstein cows of 8 separation families. Individual SNP-based association analysis revealed 4 significant associations of SNP Ex1-1, SNP Int3-1, SNP Int5-1, and SNP Ex12-3 with milk yield (P < 0.05), and 2 significant associations of SNP Ex1-1 and SNP Ex12-3 with protein yield (P < 0.05). Furthermore, our haplotype-based association analyses indicated that haplotypes G-C-C, formed by SNP Ex12-2-SNP Int11-1-SNP Ex11-1, T-G, formed by SNP Int9-3-SNP Int9-2, and C-C, formed by SNP Int5-1-SNP Int3-1, are significantly associated with protein percentage (F=4.15; P=0.0418) and fat percentage (F=5.18~7.25; P=0.0072~0.0231). Finally, by using an in vitro expression assay, we demonstrated that the A allele of SNP Ex1-1 and T allele of SNP Ex11-1of UGDH significantly decreases the expression of UGDH by 68.0% at the RNA, and 50.1% at the protein level, suggesting that SNP Ex1-1 and Ex11-1 represent two functional polymorphisms affecting expression of UGDH and may partly contributed to the observed association of the gene with milk production traits in our samples. Conclusions Taken together, our findings strongly indicate that UGDH gene could be involved in genetic variation underlying the QTL for milk production traits.