Imprinting and epigenetic inheritance in human disease
Part 1. Genetics
Published Online: 15 NOV 2005
Copyright © 2005 John Wiley & Sons, Ltd
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
How to Cite
Polychronakos, C. 2005. Imprinting and epigenetic inheritance in human disease. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.3:26.
- Published Online: 15 NOV 2005
The silencing of either the paternal or the maternal copy of the few human genes that are subject to parental imprinting may contribute to genetic disease or modify its inheritance pattern. Disruption of the normal process of imprinting may result in double gene dosage if both copies are expressed or in a null phenotype if neither is. When normally imposed, imprinting can play a role in disease by leaving only one of the two copies to be inactivated by mutation. This introductory review explains the various mechanisms and gives examples of the best-understood diseases where imprinting plays an important role.
- transient neonatal diabetes;