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Screening of Kozak-motif-located SNPs and analysis of their association with human diseases

Authors :
Yujie Fu
Zejun Wei
Yang Shu
Bin Lin
Xiangyin Kong
Heng Xu
Quan Tang
Landian Hu
Yufei Zhu
Li Zhou
Ping Wang
Yufang Zheng
Jin You
Source :
Biochemical and biophysical research communications. 392(1)
Publication Year :
2009

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.

Details

ISSN :
10902104
Volume :
392
Issue :
1
Database :
OpenAIRE
Journal :
Biochemical and biophysical research communications
Accession number :
edsair.doi.dedup.....61afcdca7076e2158cc7a7650eca27f9