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Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

Angela Sparago1, Flavia Cerrato1, Andrea Riccio1,2

  • 11Dipartimento di Scienze e Tecnologie Ambientali Biologiche e Farmaceutiche, Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy.

Clinical Epigenetics
|February 28, 2018
PubMed
Abstract

Insights

Deletions in the H19/IGF2:IG-DMR region can cause Silver-Russell syndrome (SRS) by disrupting ZFP57 binding and leading to loss of methylation (LOM). The extent of deletion determines the impact on DNA methylation and phenotype.

Area of Science:

  • Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • Loss of paternal methylation (LOM) at the H19/IGF2:IG-DMR is linked to Silver-Russell syndrome (SRS).
  • Internal deletions within H19/IGF2:IG-DMR are associated with LOM and SRS on paternal inheritance.
  • Previously described deletions causing Beckwith-Wiedemann syndrome (BWS) on maternal inheritance showed normal methylation and phenotype upon paternal inheritance.

Purpose of the Study:

  • To investigate the role of ZFP57 binding in maintaining H19/IGF2 imprinting.
  • To determine if deletions affecting ZFP57 binding sites cause LOM and SRS.

Main Methods:

  • Comparative analysis of H19/IGF2:IG-DMR deletion extents with ZFP57 binding profiles.
  • Hypothesizing the impact of deletions based on interference with ZFP57 binding.

Main Results:

  • Deletions significantly affecting ZFP57 binding regions result in LOM and SRS.
  • Deletions preserving ZFP57 binding sites do not alter methylation or phenotype.

Conclusions:

  • The effect of H19/IGF2:IG-DMR deletions on DNA methylation and phenotype is dependent on ZFP57 binding.
  • Disruption of ZFP57 binding on the paternal chromosome by deletions leads to SRS with LOM.
Keywords:
Beckwith-Wiedemann syndromeDNA methylationGenomic imprintingH19/IGF2:IG-DMR deletionsSilver-Russell syndromeZFP57

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