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Human Molecular Genetics Advance Access published online on October 25, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddl422
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© 2006 The Author(s) This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Received August 30, 2006
Revised October 23, 2006
Accepted October 23, 2006

Article

Contribution of mGluR and Fmr1 Functional Pathways to Neurite Morphogenesis, Craniofacial Development and Fragile X Syndrome

Ben Tucker 1 *, Robert I. Richards 1, and Michael Lardelli 1

1 ARC Special Research Center for the Molecular Genetics of Development and Discipline of Genetics School of Molecular and Biomedical Science The University of Adelaide SA 5005 AUSTRALIA

* To whom correspondence should be addressed.
Ben Tucker, E-mail: ben.tucker{at}adelaide.edu.au


  Abstract

Fragile X Syndrome is a leading heritable cause of mental retardation that results from the loss of FMR1 gene function. Studies in mouse and Drosophila model organisms have been critical in understanding many aspects of the loss of function of the FMR1 gene in the human syndrome. Here we establish that the zebrafish is a useful model organism for study of the human Fragile X Syndrome, and can be used to examine phenotypes that are difficult or inaccessible to observation in other model organisms. Using morpholino knockdown of the fmr1 gene, we observed abnormal axonal branching of Rohon-Beard and trigeminal ganglion neurons and guidance and defasciculation defects in the lateral longitudinal fasciculus. We demonstrate that this axonal branching defect can be rescued by treatment with MPEP (2-methyl-6-(phenylethynyl) pyridine). This is consistent with an interaction between mGluR signalling and fmr1 function in neurite morphogenesis. We also describe novel findings of abnormalities in the abundance of trigeminal ganglion neurons and of craniofacial abnormalities apparently due to dysmorphic cartilage formation. These abnormalities may be related to a role for fmr1 in neural crest cell specification and possibly in migration.


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