151. Screening of Kozak-motif-located SNPs and analysis of their association with human diseases
- Author
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Xu, Heng, Wang, Ping, You, Jin, Zheng, Yufang, Fu, Yujie, Tang, Quan, Zhou, Li, Wei, Zejun, Lin, Bin, Shu, Yang, Zhu, Yufei, Hu, Landian, and Kong, Xiangyin
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NUCLEOTIDES , *PROTEINS , *GENETIC translation , *DATABASES , *CELLULAR control mechanisms , *GENETIC polymorphisms , *GENE expression - Abstract
Abstract: The Kozak motif, which is located near the translational start codon, often regulates the protein translation. Moreover, it is believed that the conserved positions −3 and +4 contribute the most. Since changes that occur in this motif have a great impact on protein yield and in some cases are associated with disease, we screened the human SNP database for all Kozak-motif-located SNPs (kSNPs) and focused on the strong-changed kSNPs (sckSNPs). Many intron-located and synonymous SNPs are reported to be associated with disease, though the mechanisms underlying these associations are poorly understood. Here, we performed haplotype analysis on sckSNP-containing genes and found that there are some sckSNPs that exist in the same haplotype blocks of reported intron-located and synonymous disease-associated SNPs, indicating that those kSNPs could be a true risk factor for disease-association by affecting the efficiency of protein expression. Our findings provide a candidate explanation for how diseases are associated with intron-located and synonymous SNPs. [Copyright &y& Elsevier]
- Published
- 2010
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