Molecular biology of myelin proteins from the central nervous system

Abstract

Within the past several years, several of the genes coding for the major myelin proteins have been isolated, characterized, and mapped to specific chromosomes. In all cases, it has been clearly established that these proteins exist as multiple isoforms, and their structures have been established through an analysis of the cDNA clones encoding them. In each case, the isoforms appear to arise through the translation of individual mRNAs produced by alternative splicing of the primary transcript of a single gene. In several cases, the expression of the individual isoforms appears to be developmentally and/or regionally regulated, probably at the level of the splicing of the primary transcript. In the case of the dysmyelinating mutants shiverer and jimpy, the molecular defects involve the MBP gene and PLP gene, respectively; most of the dysmyelinating mutants, including those in which the genetic defect is established, appear to exhibit pleiotropy with respect to the expression of other myelin protein genes.