Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

Citations Over TimeTop 10% of 2006 papers

Abstract

Human chromosome 11p15 comprises two imprinted domains important in the control of fetal and postnatal growth. Novel studies establish that imprinting at one of these, the IGF2-H19 domain, is epigenetically deregulated (with loss of DNA methylation) in Silver-Russell Syndrome (SRS), a congenital disease of growth retardation and asymmetry. Previously, the exact opposite epigenetic alteration (gain of DNA methylation) had been detected at the domain's 'imprinting control region' (ICR) in patients with Beckwith-Wiedemann Syndrome (BWS), a complex disorder of fetal overgrowth. However, more frequently, BWS is caused by loss of DNA methylation at the ICR that regulates the second imprinted domain at 11p15. Interestingly, a similar epigenetic alteration (with loss of methylation) at a putative ICR on human chromosome 6q24, is involved in transient neonatal diabetes mellitus (TNDM), a congenital disease with intrauterine growth retardation and a transient lack of insulin. Thus, fetal and postnatal growth is epigenetically controlled by different ICRs, at 11p15 and other chromosomal regions.

Related Papers

• → The Importance of Imprinting in the Human Placenta(2010)246 cited
• → Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome(1993)424 cited
• → The evolution of imprinting in plants: beyond the seed(2021)19 cited
• → INVESTIGATING THE MOLECULAR AND DEVELOPMENTAL EFFECTS OF VARIOUS CULTURE REGIMES IN A MOUSE MODEL SYSTEM(2008)
• Genomic imprinting and genomic imprinting disorder(2001)