Cis-acting regulatory variation in the human genome.
The systematic screening of the human genome for genetic variants that affect gene regulation should advance our fundamental understanding of phenotypic diversity and lead to the identification of alleles that modify disease risk. There are several challenges in localizing regulatory polymorphisms, including the wide spectrum of cis-acting regulatory mechanisms, the inconsistent effects of regulatory variants in different tissues, and the difficulty in isolating the causal variants that are in linkage disequilibrium with many other variants. We discuss the current state of knowledge and technologies used for mapping and characterizing genetic variation controlling human gene expression.
Pastinen
Tomi
T
McGill University and Genome Quebec Innovation Centre, 740 Drive Penfield Avenue, Montreal, Quebec H3A 1A4, Canada.
Hudson
Thomas J
TJ
D000483:Alleles; D022981:Allelic Imbalance; D002874:Chromosome Mapping; D044127:Epigenesis, Genetic; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D015810:Linkage Disequilibrium; D010641:Phenotype; D011110:Polymorphism, Genetic; D012045:Regulatory Sequences, Nucleic Acid