Microsatellite Tandem Repeats Are Abundant in Human Promoters and Are Associated with Regulatory Elements

• DOI: 10.1371/journal.pone.0054710
• Publication Date: 2013-02-06T22:16:48Z
• Authors: Sterling Sawaya; Andrew Bagshaw; Emmanuel Buschiazzo; Pankaj Kumar; Shantanu Chowdhury; Michael A. Black; Neil Gemmell
• Keywords: CpG site

Tandem repeats are genomic elements that prone to changes in repeat number and thus often polymorphic. These sequences found at a high density the start of human genes, gene’s promoter. Increasing empirical evidence suggests length variation these tandem can affect gene regulation. One class repeats, known as microsatellites, rapidly alter number. Some genetic induced by microsatellites is result phenotypic variation. Recently, our group developed novel method for measuring evolutionary conservation with it we discovered near transcription sites highly conserved. In this study, examined properties promoters. We genes. showed statistically associated promoters using wavelet analysis, which allowed us test associations on multiple scales control other promoter related elements. Because tend be G/C rich, hypothesized rich regulatory may drive association between Our results indicate CpG islands, G-quadruplexes (G4) untranslated regions have significant but controlling analysis does not remove Due their intrinsic lability overlap predicted functional elements, suggest many potential phenotypes generating mutations ultimately disease. discuss functions context.