Cloning and characterisation of a novel developmental gene involved in myelination.

Funded Activity Summary

This project aims to identify and characterise a novel human gene involved in the formation of different organs and tissues, with an essential role in nervous system development. One of the most interesting facts of life, emerging from the completion of the Human Genome Project, is that it is not the number of genes but rather their regulation that plays the major role in evolution and determines the differences between species. The development of a human being from conception to birth is among the most complex processes, where fine regulation of the timing and site of gene expression is crucial. We have recently identified a novel disorder where a mutation in a single gene disrupts the development and function of the eyes, the skull, the nervous, and the endocrine systems. The most disabling manifestations of the disease result from involvement of the peripheral nervous system. This is due to the failure of affected individuals to produce myelin, the insulating material that enwraps nerve fibres and facilitates the rapid conduction of nerve impulses. The mutated gene, which the project aims to identify, is likely to be involved in regulating the expression of multiple other genes essential for the early stages of myelination, as well as for the development of other tissues. The disease gene has been localised to a small interval on the long arm of chromosome 18, which does not contain any known developmental genes, suggesting that the project will provide novel information on the molecular pathways governing normal human development. As a result, the study may have important implications for understanding the general pathogenesis of disorders of the peripheral nervous system, including its common forms which affect thousand of people worldwide.

Funded Activity Details

Start Date: 01-01-2002

End Date: 01-01-2003

Funding Scheme: NHMRC Project Grants

Funding Amount: $150,880.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Medical mycology

ANZSRC Socio-Economic Objective (SEO)

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Other Keywords

Charcot-Marie-Tooth neuropathy | Developmental genes | Gene mapping | Myelination | Neurodevelopmental disorders | Neurogenetics | Peipheral neuropathy | Positional cloning

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