Molecular Bases for Population Variation: from SNP to SAP

来源 :第五届全国生物信息学与系统生物学学术大会 | 被引量 : 0次 | 上传用户:alikeboy
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  Single-nucleotide polymorphisms (SNPs) are recognized as one kind of major genetic variants in population scale.However, polymorphisms at the proteome level in population scale remain elusive.Recently, we have analyzed amino acid variances derived from SNPs within coding regions, which is named as single amino acid polymorphisms (SAPs), and developed a pipeline of non-targeted and targeted proteomics to identify and quantify SAP peptides in human plasma at proteomic level.The absolute concentrations of three selected SAP-peptide pairs among 290 Asian individuals were measured by selected reaction monitoring (SRM) approach, and their associations with both obesity and diabetes were further analyzed.Our works revealed that heterozygotes and homozygotes with various SAPs in a population could have different associations with particular traits.In addition, the SRM approach allows us for the first time to separately measure the absolute concentration of each SAP peptide in the heterozygotes, which also shows different associations with particular traits.In the light of recent discoveries there are extensive variations between DNA and mRNA sequences during the transcriptional process, we believe there must be mRNA and protein sequence differences at proteome-level .
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