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Common Regulatory Variation Impacts Gene Expression in a Cell Type–Dependent Manner
Open accessAbstract
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.
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“The lead eQTL SNPs are predominantly located near the transcription start sites of their target genes 18,19 ( Supplementary Figure 4 ).”
Metadata
- Authors
- Dimas, A. S., Deutsch, S., Stranger, B. E., Montgomery, S. B., Borel, C., Attar-Cohen, H., Ingle, C., Beazley, C., Arcelus, M. G., Sekowska, M., Gagnebin, M., Nisbett, J., Deloukas, P., Dermitzakis, E. T., & Antonarakis, S. E.
- Venue
- Science
- Published
- 2009-09-04
- Volume
- 325
- Issue
- 5945
- Pages
- 1246-1250
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2069298307
- Cited by
- 745
- References
- 10
- FWCI
- 38.67
- Type
- journal article
- Language
- en
- Open access
- green
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