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Imprinting and epigenetic inheritance in human disease

Part 1. Genetics

1.3. Epigenetics

Introductory Review

  1. Constantin Polychronakos

Published Online: 15 NOV 2005

DOI: 10.1002/047001153X.g103106

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

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.

Author Information

  1. McGill University Health Center, Montreal, QC, Canada

Publication History

  1. Published Online: 15 NOV 2005

Abstract

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.

Keywords:

  • imprinting;
  • inheritance;
  • Prader–Willi;
  • Angelman;
  • Beckwith–Wiedemann;
  • transient neonatal diabetes;
  • pseudohypoparathyroidism