The distribution of SNPs in human gene regulatory regions

Guo, Yongjian; Jamison, D. Curtis

The distribution of SNPs in human gene regulatory regions

dc.contributor.author	Guo, Yongjian	en
dc.contributor.author	Jamison, D. Curtis	en
dc.date.accessioned	2012-08-24T12:19:06Z	en
dc.date.available	2012-08-24T12:19:06Z	en
dc.date.issued	2005-10-06	en
dc.date.updated	2012-08-24T12:19:06Z	en
dc.description.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. Conclusion 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.	en
dc.description.version	Published version	en
dc.format.mimetype	application/pdf	en
dc.identifier.citation	BMC Genomics. 2005 Oct 06;6(1):140	en
dc.identifier.doi	https://doi.org/10.1186/1471-2164-6-140	en
dc.identifier.uri	http://hdl.handle.net/10919/18961	en
dc.language.iso	en	en
dc.rights	Creative Commons Attribution 4.0 International	en
dc.rights.holder	Yongjian Guo et al.; licensee BioMed Central Ltd.	en
dc.rights.uri	http://creativecommons.org/licenses/by/4.0/	en
dc.title	The distribution of SNPs in human gene regulatory regions	en
dc.title.serial	BMC Genomics	en
dc.type	Article - Refereed	en
dc.type.dcmitype	Text	en