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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.

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Acknowledgements

Work in the author's laboratory was supported by NIH grants CA67941, CA16058 and P01 124570.

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Correspondence to A de la Chapelle.

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de la Chapelle, A. Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci. Oncogene 28, 3345–3348 (2009). https://doi.org/10.1038/onc.2009.194

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