Bernhard Horsthemke, Ph.D., is Professor and Chair of Human Genetics at the University of Duisburg-Essen and Director of the Institute of Human Genetics at the University Hospital Essen. After receiving a degree in chemistry from the Technical University of Berlin, he performed post-doctoral studies in molecular human genetics at St. Mary's Hospital Medical School, London, UK. His main research interest is the role of genetic and epigenetic variation in human disease with a major focus on genomic imprinting.
Mechanisms of imprint dysregulation†
Article first published online: 20 AUG 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Imprinted Genes and Human Disease
Volume 154C, Issue 3, pages 321–328, 15 August 2010
How to Cite
Horsthemke, B. (2010), Mechanisms of imprint dysregulation. Am. J. Med. Genet., 154C: 321–328. doi: 10.1002/ajmg.c.30269
How to cite this article: Horsthemke B. 2010. Mechanisms of imprint dysregulation. Am J Med Genet Part C Semin Med Genet 153C:321–328.
- Issue published online: 20 AUG 2010
- Article first published online: 20 AUG 2010
- Bundesministerium für Bildung und Forschung (Network “Imprinting Diseases”). Grant Number: 01GM0882
Genomic imprinting is an epigenetic process by which the male and the female germ line confer specific marks (imprints) onto certain gene regions, so that one allele of an imprinted gene is active and the other allele is silent. Genomic imprints are erased in primordial germ cells, newly established during later stages of germ cell development, and stably inherited through somatic cell divisions during postzygotic development. Defects in imprint erasure, establishment, or maintenance result in a paternal chromosome carrying a maternal imprint or in a maternal chromosome carrying a paternal imprint. A wrong imprint leads to activation of an allele that should be silent or silencing of an allele that should be active. Since the dosage of imprinted genes is very important for development and growth, imprinting defects lead to specific diseases. Imprinting defects can occur spontaneously without any DNA sequence change (primary imprinting defect) or as the result of a mutation in a cis-regulatory element or a trans-acting factor (secondary imprinting defect). The distinction between primary and secondary imprinting defects is important for assessing the recurrence risk in affected families. © 2010 Wiley-Liss, Inc.