Research article summary (published 30 Jan 2009):

Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model.

Full Abstract

Apert syndrome (AS) is a severe congenital disease caused by mutations in fibroblast growth factor receptor-2 (FGFR2), and characterised by craniofacial, limb, visceral, and neural abnormalities. AS-type FGFR2 molecules exert a gain-of-function effect in a ligand-dependent manner, but the causative FGFs and their relative contribution to each of the abnormalities observed in AS remains unknown. We have generated mice that harbour an AS mutation but are deficient in or heterozygous for Fgf10. The genetic knockdown of Fgf10 can rescue the skeletal as well as some of the visceral defects observed in this AS model, and restore a near normal level of FgfR2 signaling involving an apparent switch between ERK(p44/p42) and p38 phosphorylation. Surprisingly, it can also yield de novo cleft palate and blind colon in a subset of the compound mutants. These findings strongly suggest that Fgf10 contributes to AS-like pathologies and highlight a complexity of Fgf10 function in different tissues.

Author information

Author/s: Hajihosseini, Mohammad K (MK); Duarte, Raquel (R); Pegrum, Jean (J); Donjacour, Anne (A); Lana-Elola, Eva (E); Rice, David P (DP); Sharpe, James (J); Dickson, Clive (C);

Affiliation: School of Biological Sciences, University of East Anglia, Norwich, United Kingdom. m.k.h(-atsign-)uea.ac.uk

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Developmental dynamics : an official publication of the American Association of Anatomists (Dev Dyn), published in United States. (Language: eng)

Reference: 2009-Feb; vol 238 (issue 2) : pp 376-85

Dates: Created 2009/02/03; Completed 2009/07/07;

PMID: 18773495, status: MEDLINE (last retrieval date: 7/24/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Acrocephalosyndactylia - genetics; metabolism; pathology Animals Bone and Bones - abnormalities Cleft Palate - genetics Colon - abnormalities Extracellular Signal-Regulated MAP Kinases - metabolism Fibroblast Growth Factor 10 - genetics; physiology Gene Knockdown Techniques Lung - metabolism

Mice Mice, Mutant Strains Mutation Phosphorylation Protein Isoforms - biosynthesis Receptor, Fibroblast Growth Factor, Type 2 - biosynthesis; physiology Signal Transduction Viscera - abnormalities p38 Mitogen-Activated Protein Kinases - metabolism

Associated Chemicals: Fgf10 protein, mouse (0) ; Fibroblast Growth Factor 10 (0) ; Protein Isoforms (0) ; Receptor, Fibroblast Growth Factor, Type 2 (EC 2.7.1.112) ; Extracellular Signal-Regulated MAP Kinases (EC 2.7.1.37) ; p38 Mitogen-Activated Protein Kinases (EC 2.7.1.37)

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