Myelin-specific genes and their mutations in the mouse
Myelination depends on the co-ordinate expression of a battery of structural proteins which are responsible for the architecture of compacted myelin. Mutations of myelin genes illustrate how development proceeds in the absence of the corresponding myelin proteins (and often in the presence of the mutant gene product). These observations allow the reconstruction of myelin protein functions, and merge slowly into a larger picture. Whereas some hypotheses of a structure-function relationship have been confirmed (e.g., for MBP and PO), the mutations in the genes for PLP, PMP22, and MAG are more difficult to interpret. Both, the unexpected phenotype and the lack thereof will lead to modifications of existing models and suggest specific experiments often times in more simplified systems. Some of the mouse mutants have become accurate models for human dysmyelinating disease (Pelizaeus–Merzbacher disease, Charcot–Marie–Tooth disease). Experimental mouse genetics will continue to be an important tool for both developmental neurobiology and clinical research.
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