Bioinformatics analysis of mice Agouti gene polymorphism
Received:December 17, 2013  
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KeyWord:Agouti gene;Single nucleotide polymorphism;Haplotype;DNA chips;Bioinformatics;Mice
何晓丹 东华大学生物科学与技术研究所, 上海
赵莹 上海实验动物研究中心, 上海
赵丽亚 上海实验动物研究中心, 上海
肖君华 东华大学生物科学与技术研究所, 上海
周宇荀 东华大学生物科学与技术研究所, 上海
李凯 东华大学生物科学与技术研究所, 上海
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      Purpose Polymorphisms of candidate gene Agouti was analyzed in order to reveal the molecular mechanisms of coat color difference in chromosome engineering mice. Methods Firstly, differences of mouse coat color was detected by color measurement spectrophotometer. Then, candidate gene Agouti was found by whole genome scanning based on DNA chip. Finally, cDNA and amino acid sequence polymorphisms were analyzed, as well as the influence of protein properties and function after mutation was predicted by bioinformatics software. Results There are five SNPs in the Agouti cDNA sequences, resulting in three missense mutations in the amino acid sequence of Agouti signaling protein. Bioinformatics analysis revealed that one β sheet deletion in the secondary structure of the mutant protein, as well as tertiary structure changed, leading to decrease of binding ability. Conclusion A novel missense mutation is found in candidate Agouti gene. It plays critical role in receptor binding activity, and may reflect on mice coat color changing from light gray to dark gray eventually.
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