Back to Search
Start Over
Screening of Kozak-motif-located SNPs and analysis of their association with human diseases
- Source :
-
Biochemical & Biophysical Research Communications . Jan2010, Vol. 392 Issue 1, p89-94. 6p. - Publication Year :
- 2010
-
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]
Details
- Language :
- English
- ISSN :
- 0006291X
- Volume :
- 392
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Biochemical & Biophysical Research Communications
- Publication Type :
- Academic Journal
- Accession number :
- 47831607
- Full Text :
- https://doi.org/10.1016/j.bbrc.2010.01.002