鸡BCO2基因功能性单核苷酸多态性的生物信息分析

In silico characterization of functional SNP within chicken BCO2 gene

旨在筛选鸡BCO2基因中具有潜在生物学功能的同义单核苷酸多态性(non-synonymous single nucleotide polymorphisms,nsSNPs)。从SNP数据库中检索出8个BCO2 基因nsSNPs,利用SIFT、PolyPhen-2、PANTHER和PROVEAN方法分析引起的氨基酸替换是否可能影响BCO2 的功能预测。进一步对鸡BCO2基因编码的氨基酸序列进行翻译后修饰位点预测以及进化位点保守性预测;使用SWISS-MODEL构建了BCO2野生型以及突变型蛋白质的空间结构。结果表明:3个nsSNPs(rs739117331、rs735703078和rs736211538)可能严重影响BCO2蛋白功能。

Beta-carotene 9′,10′-monooxygenase play an important role in the metabolic process of carotenoid in animals. In this study, multiple in silico computational methods were used to identify non-synonymous or amino acid-changing SNPs(nsSNP) that are deleterious to BCO2,including four different in silico prediction algorithms and evolutionary conservation data from the ConSurf web server. Several putative structural sites that undergo post-translational modification were also identified. In total, out of 8 nsSNPs of BCO2, S535A、D371A and T331P were predicted most damaging. This cataloguing of deleterious SNPs is essential for narrowing down the number of BCO2 mutations to be screened in genetic association studies and for a better understanding of the functional and structural aspects of the BCO2 protein.