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Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.

ABSTRACT: 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.

SUBMITTER: de la Chapelle A

PROVIDER: S-EPMC4348697 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature

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Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.

de la Chapelle A A

Oncogene 20090713 38

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. ...[more]

PMID: 19597467

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