Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27.

Abstract

The extracellular signal-related kinases 1 and 2 (ERK1/2) are key proteins mediating mitogen-activated protein kinase signaling downstream of RAS: phosphorylation of ERK1/2 leads to nuclear uptake and modulation of multiple targets. Here, we show that reduced dosage of ERF, which encodes an inhibitory ETS transcription factor directly bound by ERK1/2 (refs. 2,3,4,5,6,7), causes complex craniosynostosis (premature fusion of the cranial sutures) in humans and mice. Features of this newly recognized clinical disorder include multiple-suture synostosis, craniofacial dysmorphism, Chiari malformation and language delay. Mice with functional Erf levels reduced to ∼30% of normal exhibit postnatal multiple-suture synostosis; by contrast, embryonic calvarial development appears mildly delayed. Using chromatin immunoprecipitation in mouse embryonic fibroblasts and high-throughput sequencing, we find that ERF binds preferentially to elements away from promoters that contain RUNX or AP-1 motifs. This work identifies ERF as a novel regulator of osteogenic stimulation by RAS-ERK signaling, potentially by competing with activating ETS factors in multifactor transcriptional complexes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Core Binding Factor alpha Subunits / metabolism
  • Cranial Sutures / growth & development
  • Cranial Sutures / metabolism
  • Cranial Sutures / pathology
  • Craniosynostoses* / genetics
  • Craniosynostoses* / physiopathology
  • Embryonic Development / genetics
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Humans
  • MAP Kinase Signaling System*
  • Mice
  • Molecular Sequence Data
  • Mutation
  • Osteogenesis / genetics*
  • Repressor Proteins / genetics*
  • Signal Transduction
  • Transcription Factor AP-1 / metabolism

Substances

  • Core Binding Factor alpha Subunits
  • ERF protein, human
  • Erf protein, mouse
  • Repressor Proteins
  • Transcription Factor AP-1

Associated data

  • GEO/GSE42936
  • RefSeq/NC_000019
  • RefSeq/NM_006494
  • RefSeq/NM_010155
  • SWISSPROT/P11308
  • SWISSPROT/P14921
  • SWISSPROT/P17947
  • SWISSPROT/P19419
  • SWISSPROT/P32519
  • SWISSPROT/P41212
  • SWISSPROT/P43268
  • SWISSPROT/P50548
  • SWISSPROT/P78545
  • SWISSPROT/Q06546