1. Common regulatory variation impacts gene expression in a cell type dependent manner
- Author
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Antigone S. Dimas, Homa Attar-Cohen, Emmanouil T. Dermitzakis, Stylianos E. Antonarakis, Barbara E. Stranger, Panos Deloukas, Catherine E. Ingle, Stephen B. Montgomery, Maria Gutierrez Arcelus, Samuel Deutsch, Magdalena Sekowska, Marilyne Gagnebin, Christelle Borel, James Nisbett, and Claude Beazley
- Subjects
Genotype ,RNA, Messenger/genetics/metabolism ,T-Lymphocytes ,Quantitative Trait Loci ,Quantitative trait locus ,Biology ,Allelic Imbalance ,Polymorphism, Single Nucleotide ,Article ,Statistics, Nonparametric ,Cell Line ,03 medical and health sciences ,0302 clinical medicine ,Gene Frequency ,Gene expression ,Genetic variation ,Humans ,ddc:576.5 ,Genetic variability ,RNA, Messenger ,Regulatory Elements, Transcriptional ,Gene ,030304 developmental biology ,Regulation of gene expression ,Genetics ,0303 health sciences ,B-Lymphocytes ,Multidisciplinary ,Gene Expression Profiling ,Fibroblasts ,Gene expression profiling ,Enhancer Elements, Genetic ,Gene Expression Regulation ,Expression quantitative trait loci ,030217 neurology & neurosurgery - 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.
- Published
- 2009