Genomic Imprinting and Human Pathology

Overview

Genomic imprinting is an epigenetic form of regulation of gene expression. Imprinted genes are transcribed from one allele of specific parental origin. Such genes are normally involved in embryonic growth and behavioral development. Deregulation of imprinted genes has been observed in a number of human diseases as gestation trophoblastic disease, Prader-Willi, Angelmann and Beckwith-Wiedemann syndromes and plays significant role in the carcinogenesis. Review of recent knowledge on mechanism and regulation of imprinting is presented in this paper. 

Key words:
imprinting, uniparental disomy, Prader-Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome, Wilm’s tumor.