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Human Molecular Genetics Advance Access published online on September 8, 2005
Human Molecular Genetics, doi:10.1093/hmg/ddi330
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© The Author 2005. Published by Oxford University Press. All rights reserved
Received July 5, 2005
Revised August 25, 2005
Accepted August 25, 2005

Article

Synapse proteomics of multiprotein complexes: en route from genes to nervous system diseases

Seth G.N. Grant 1*, Michael C. Marshall 1, Keri-Lee Page 1, Mark A. Cumiskey 2, and J. Douglas Armstrong 3

1 Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA. UK
2 Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA. UK; School of Informatics, Edinburgh University, UK
3 School of Informatics, Edinburgh University, UK

* To whom correspondence should be addressed.
Seth G.N. Grant, E-mail: sg3{at}sanger.ac.uk


  Abstract

Proteomic experiments have produced a draft profile of the overall molecular composition of the mammalian neuronal synapse. It appears that synapses have over 1000 protein components and the mapping of their interactions, organisation and functions will lead to a global view of the role of synapses in physiology and disease. A major functional subcomponent of the synaptic machinery are multiprotein complexes of glutamate receptors and adhesion proteins with associated adaptor and signalling enzymes totally 185 proteins known as the N-methyl-D-aspartate receptor complex/MAGUK Associated Signalling Complex (NRC or MASC). Here we review the proteomic studies and functions of NRC/MASC and specifically report on the role of its component genes in human diseases. Using a systematic literature search protocol we identified reports of mutations or polymorphisms in 47 genes associated with 183 disorders, of which 54 were nervous system disorders. A similar number of genes are important in mouse synaptic plasticity and behaviour where the NRC/MASC acts as a signalling complex with multiple functions provided by its individual protein components and their interactions. The individual gene mutations suggest not only an important role for the NRC/MASC in human diseases but that these diseases may be functionally connected by their common link to the NRC/MASC. The NRC/MASC is a rich source of genetic variation and provides a platform for understanding relationships of disease phenotype amenable to systematic studies such as the Genes to Cognition research consortium (www.genes2cognition.org) that links human and mouse genetics with proteomic studies.


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