Article
Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans.
Nucleic acids research - 5 May 2016
Quilez Javier, Guilmatre Audrey, Garg Paras, Highnam Gareth, Gymrek Melissa, Erlich Yaniv, Joshi Ricky S, Mittelman David, Sharp Andrew J
Abstract excerpt
Despite representing an important source of genetic variation, tandem repeats (TRs) remain poorly studied due to technical difficulties. We hypothesized that TRs can operate as expression (eQTLs) and methylation (mQTLs) quantitative trait loci. To test this we analyzed the effect of variation at 4849 promoter-associated TRs, genotyped in 120 individuals, on neighboring gene expression and DNA methylation....
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