Analysis of data from the human 1000 Genomes Project has revealed that common cis-regulatory variants can modify the distribution of rare coding variants. When a regulatory single-nucleotide variant (SNV) increases expression of a gene, there tend to be lower numbers of coding variants in that gene than would be predicted from the action of purifying selection. Interestingly, this pattern was not seen for disease-associated regulatory variants. This work has implications for understanding the function of genetic variants and how the spectrum of variation has arisen.
ORIGINAL RESEARCH PAPER
Lappalainen, T. et al. Epistatic selection between coding and regulatory variation in human evolution and disease. Am. J. Hum. Genet. 89, 459–463 (2011)
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Muers, M. Relationships between cis-regulatory and coding variants. Nat Rev Genet 12, 741 (2011). https://doi.org/10.1038/nrg3101
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DOI: https://doi.org/10.1038/nrg3101
