The distribution of SNPs in human gene regulatory regions

51Citations
Citations of this article
89Readers
Mendeley users who have this article in their library.

Abstract

Background: As a result of high-throughput genotyping methods, millions of human genetic variants have been reported in recent years. To efficiently identify those with significant biological functions, a practical strategy is to concentrate on variants located in important sequence regions such as gene regulatory regions. Results: Analysis of the most common type of variant, single nucleotide polymorphisms (SNPs), shows that in gene promoter regions more SNPs occur in close proximity to transcriptional start sites than in regions further upstream, and a disproportionate number of those SNPs represent nucleotide transversions. Additionally, the number of SNPs found in the predicted transcription factor binding sites is higher than in non-binding site sequences. Conclusions: Current information about transcription factor binding site sequence patterns may not be exhaustive, and SNPs may be actively involved in influencing gene expression by affecting the transcription factor binding sites. © 2005 Guo and Jamison, licensee BioMed Central Ltd.

Cite

CITATION STYLE

APA

Guo, Y., & Jamison, D. C. (2005). The distribution of SNPs in human gene regulatory regions. BMC Genomics, 6. https://doi.org/10.1186/1471-2164-6-140

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free