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

编号：

6a131728-8567-42a4-94ab-20186a57c62c
作者：

Xu, Heng^[1,2] Wang, Ping^[1,2] You, Jin^[1,2] Zheng, Yufang^[4] Fu, Yujie^[1,2] Tang, Quan^[1,2] Zhou, Li^[1,2] Wei, Zejun^[1,2] Lin, Bin^[1,2] Shu, Yang^[1,2] Zhu, Yufei^[1,2] Hu, Landian^[1,2,3] Kong, Xiangyin^[1,2,3]
语种：

English
期刊：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS ISSN：0006-291X 2010 年 392 卷 1 期 (89 - 94) ; JAN 29
收录：
关键词：

Kozak motif Start codon Translation Single nucleotide polymorphism Disease
摘要：

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.
推荐引用方式
GB/T 7714：

Xu Heng,Wang Ping,You Jin, et al. Screening of Kozak-motif-located SNPs and analysis of their association with human diseases [J].BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2010,392(1):89-94.
APA：

Xu Heng,Wang Ping,You Jin,Zheng Yufang,&Kong Xiangyin.(2010).Screening of Kozak-motif-located SNPs and analysis of their association with human diseases .BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,392(1):89-94.
MLA：

Xu Heng, et al. "Screening of Kozak-motif-located SNPs and analysis of their association with human diseases" .BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 392,1(2010):89-94.

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