Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.
The two alleles of a gene can be expressed at different levels, the extreme example being imprinting, a condition in which one allele is totally suppressed. Recently, subtle differences in the expression of the two alleles have been detected in numerous human genes and in a few cases, have been associated with a genetic predisposition to disease. The underlying mechanisms are largely unexplored.
de la Chapelle
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Comprehensive Cancer Center, Ohio State University, Columbus, 43210, USA. albert.delachapelle@osumc.edu
D000483:Alleles; D002874:Chromosome Mapping; D015179:Colorectal Neoplasms / Q000235:genetics; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D050436:Regulatory Elements, Transcriptional