The International Journal of Developmental Biology

Int. J. Dev. Biol. 58: 291 - 298 (2014)

Vol 58, Issue 2-3-4

Special Issue: Embryo Implantation

Epigenetics and imprinting in human disease

Published: 10 July 2014

Jennifer M. Kalish, Connie Jiang and Marisa S. Bartolomei*

Department of Cell and Developmental Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA


Most genes are expressed from both parental chromosomes; however, a small number of genes in mammals are imprinted and expressed in a parent-of-origin specific manner. These imprinted genes play an important role in embryonic and extraembryonic growth and development, as well as in a variety of processes after birth. Many imprinted genes are clustered in the genome with the establishment and maintenance of imprinted gene expression governed by complex epigenetic mechanisms. Dysregulation of these epigenetic mechanisms as well as genomic mutations at imprinted gene clusters can lead to human disease.


genomic imprinting, DNA methylation, Beckwith-Wiedemann syndrome, Russell-Silver syndrome

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