title: The distribution of SNPs in human gene regulatory regions.
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.
authors.affiliation: School of Computational Sciences, George Mason University, Manassas, VA 20110, USA. yguo@vbi.vt.edu
authors.forename: Yongjian
authors.initials: Y
authors.lastname: Guo
authors.forename: D Curtis
authors.initials: DC
authors.lastname: Jamison
mesh_terms: D001665:Binding Sites; D020451:Contig Mapping; D030541:Databases, Genetic; D005786:Gene Expression Regulation; D023281:Genomics / Q000379:methods*; D006801:Humans; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012045:Regulatory Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D014157:Transcription Factors