Common Regulatory Variation Impacts Gene Expression in a Cell Type–Dependent Manner

Abstract

Tissue-Specific Control The effect of genetic variation on gene expression and phenotype among individuals is largely unknown. Dimas et al. (p. 1246 , published online 30 July 2009) show that in humans there are several genes whose allelic expression varies in a tissue-specific manner and are apparently controlled by cis elements. Up to 80% of variants seem to have tissue-specific functions when compared in fibroblasts, as well as B cells and T cells. This variation among regulatory variants correlated with transcript complexity, which suggests that some of the observed regulatory variation is due to genotype-specific use of transcripts and transcription start sites.