Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

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.
Document type :
Journal articles
Complete list of metadatas

https://hal.archives-ouvertes.fr/hal-02262456
Contributor : Sarah Adele <>
Submitted on : Friday, August 2, 2019 - 3:18:56 PM
Last modification on : Saturday, August 3, 2019 - 1:37:53 AM

Identifiers

  • HAL Id : hal-02262456, version 1

Collections

Citation

K. Delaval, A. Wagschal, R. Feil. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays, 2006, 28 (5), pp.453--9. ⟨hal-02262456⟩

Share

Metrics

Record views

10