期刊
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
卷 392, 期 1, 页码 89-94出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bbrc.2010.01.002
关键词
Kozak motif; Start codon; Translation; Single nucleotide polymorphism; Disease
资金
- National High Technology Research and Development Program of China [2006AA02Z330, 2006AA02A301, 2008ZX10001-001]
- National Basic Research Program of China [2007CB512202]
- National Natural Science Foundation of China [30530450]
- Chinese Academy of Sciences [KSCX1-YW-R-74, KSCX1-YW-22]
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. (C) 2010 Elsevier Inc. All rights reserved.
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