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Semin Cell Dev Biol. 2003 Feb;14(1):101-10.

Imprinting and disease.

Author information

1
FR 8.2 Genetik, Universit├Ąt des Saarlandes, Postfach 151150, 66041 Saarbr├╝cken, Germany. j.walter@mx.uni-sb.de

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.

PMID:
12524013
[Indexed for MEDLINE]

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