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

ABSTRACT:

Background

Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated region (H19/IGF2:IG-DMR) causes alteration of H19/IGF2 imprinting and Silver-Russell syndrome (SRS). Recently, internal deletions of the H19/IGF2:IG-DMR have been associated with LOM and SRS when present on the paternal chromosome. In contrast, previously described deletions, most of which cause gain of methylation (GOM) and Beckwith-Wiedemann syndrome (BWS) on maternal transmission, were consistently associated with normal methylation and phenotype if paternally inherited.

Presentation of the hypothesis

The presence of several target sites (ZTSs) and three demonstrated binding regions (BRs) for the imprinting factor ZFP57 in the H19/IGF2:IG-D

SUBMITTER: Sparago A 

PROVIDER: S-EPMC5822596 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature