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Expression of myelin protein genes in the developing brain
A T Campagnoni1, B Sorg, H J Roth
1Mental Retardation Research Center, University of California, Los Angeles Medical School 90024.
Abstract:
The major myelin proteins fall into two classes, the basic proteins and the proteolipid proteins. In mice, five forms of the myelin basic protein (MBP) have been identified with apparent molecular masses of 21.5 kD, 18.5 kD, 17 kD and 14 kD. The 17 kD MBP variant consists of two molecular forms with similar molecular masses but different amino acid sequences. Cell-free translation studies and analyses of MBP cDNAs have shown that each of the MBP variants is encoded by a separate mRNA of approximately 2 000 bp. The five mouse MBP mRNAs appear to be derived by alternative splicing of exons 2, 5, and 6 of the MBP gene. cDNAs encoding four forms of MBP have been isolated from a human fetal spinal cord library. The mRNAs corresponding to these cDNAs are probably derived by alternative splicing of exons 2 and 5 of the human MBP gene. Proteolipid protein (PLP) cDNAs have been isolated from several species and used to establish that the size of the major PLP mRNA is approximately 3 kb. Multiple size classes of the PLP mRNAs exist in mice and rats whereas the 3 kb mRNA is the predominant form in the developing human spinal cord. In normal mice, maximal expression of the PLP gene lags behind that of the MBP gene by several days. Studies on dysmyelinating mutants have determined some of the molecular defects with respect to these two classes of myelin proteins. For example, there is a deletion of a portion of the MBP gene in the shiverer mutant. In the quaking mutant, the expression of both classes of myelin proteins is significantly reduced prior to 3 weeks. However, after 3 weeks, MBP expression approaches normal levels but the newly synthesized protein fails to be incorporated into myelin. In the jimpy mutant, although the expression of both classes of proteins is reduced, PLP expression is most severely affected.
Insights
This study details the molecular variations and gene expression of major myelin proteins, myelin basic protein (MBP) and proteolipid protein (PLP), in mice and humans. It also examines genetic defects in myelin disorders.
Area of Science:
- Neuroscience
- Molecular Biology
- Genetics
Background:
- Myelin sheath formation is crucial for nerve impulse conduction.
- Myelin basic protein (MBP) and proteolipid protein (PLP) are key components of myelin.
- Understanding their molecular variations and gene expression is vital for neurological research.
Purpose of the Study:
- To characterize the different forms of MBP and PLP in mice and humans.
- To investigate the gene expression patterns and alternative splicing of MBP and PLP mRNAs.
- To explore the molecular defects in myelin disorders affecting these proteins.
Main Methods:
- Analysis of cDNA libraries from mouse and human tissues.
- Cell-free translation studies.
- Examination of gene expression in dysmyelinating mutant models.
Main Results:
- Identified five MBP variants in mice, arising from alternative splicing of the MBP gene.
- Isolated cDNAs for four MBP forms in human fetal spinal cord.
- Characterized PLP mRNA size variations across species and identified temporal expression differences between MBP and PLP.
- Detailed molecular defects in shiverer, quaking, and jimpy mutants affecting MBP and PLP.
Conclusions:
- Alternative splicing significantly contributes to MBP diversity in mammals.
- Differential gene expression and post-translational processing impact myelin formation.
- Mutations in myelin protein genes lead to severe dysmyelination phenotypes.