Imprinting and disease.
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.
Walter
Jörn
J
FR 8.2 Genetik, Universität des Saarlandes, Postfach 151150, 66041 Saarbrücken, Germany. j.walter@mx.uni-sb.de
Paulsen
Martina
M
D000818:Animals; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics; D018507:Gene Expression Regulation, Developmental / Q000235:genetics; D030342:Genetic Diseases, Inborn; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting / Q000235:genetics* / Q000502:physiology*; D006801:Humans; D011218:Prader-Willi Syndrome / Q000235:genetics