Article
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.
Human mutation - 1 Aug 2012
Borel Christelle, Migliavacca Eugenia, Letourneau Audrey, Gagnebin Maryline, Béna Frédérique, Sailani M Reza, Dermitzakis Emmanouil T, Sharp Andrew J, Antonarakis Stylianos E
Abstract excerpt
Association studies have revealed expression quantitative trait loci (eQTLs) for a large number of genes. However, the causative variants that regulate gene expression levels are generally unknown. We hypothesized that copy-number variation of sequence repeats contribute to the expression variation of some genes. Our laboratory has previously identified that the rare expansion of a repeat c.-174CGGGGCGGGGCG in...
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