Imprinting and disease.

Jörn Walter; Martina Paulsen

doi:10.1016/s1084-9521(02)00142-8

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PubMed · 12524013

Imprinting and disease.

Jörn Walter·Martina Paulsen

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Abstract

Deregulation of imprinted genes has been observed in a number of human diseases such as Beckwith-Wiedemann syndrome, Prader-Willi/Angelman syndromes and cancer. Imprinting diseases are characterised by complex patterns of mutations and associated phenotypes affecting pre- and postnatal growth and neurological functions. Regulation of imprinted gene expression is mediated by allele-specific epigenetic modifications of DNA and chromatin. These modifications preferentially affect central regulatory elements that control in cis over long distances allele-specific expression of several neighbouring genes. Investigations of imprinting diseases have a strong impact on biomedical research and provide interesting models for function and mechanisms of epigenetic gene control.

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Animals Beckwith-Wiedemann Syndrome Gene Expression Regulation, Developmental Genetic Diseases, Inborn Genetic Predisposition to Disease Genomic Imprinting Humans Prader-Willi Syndrome Journal Article Review

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Jörn Walter, Martina Paulsen. 2003. Imprinting and disease.. https://doi.org/10.1016/s1084-9521(02)00142-8

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