Peripheral myelin protein

Trembler mouse (PMP-22) AD Peripheral myelin protein-22 (PMP-22) Hypomyelination specific for the PNS caused by point mutations in transmembrane domains see text 1,45... 

Myelin basic protein. In PNS myelin, MBP varies from approximately 5% to 18% of total protein, in contrast to the CNS, where it is close to 30% [ 1 ]. In rodents, the same four 21,18.5,17 and 14kDa MBPs found in the CNS are present in the PNS. In adult rodents, the 14kDa MBP is the most prominent component and is termed Pr in the PNS nomenclature. The 18.5 kDa component is present and is often referred to as the P, protein in the nomenclature of peripheral myelin proteins. Another species-specific variation in human PNS is that the major basic protein is not the 18.5 kDa isoform that is most prominent in the CNS but rather a form of about 17 kDa. It appears that MBP does not play as critical a role in myelin structure in the PNS as it does in the CNS. For example, the shiverer mutant mouse, which expresses no MBP (Table 4-2), has a greatly reduced amount of CNS myelin, with no compaction of the major dense line. By contrast, shiverer PNS has essentially normal myelin,both in amount and structure, despite the absence of MBP. This CNS/PNS difference in the role of MBP is probably because the cytoplasmic domain of P0 has an important role in stabilizing the major dense line of PNS myelin. Animals doubly deficient for P0 and MBP have a more severe defect in compaction of the PNS major dense line than P0-null mice, which indicates that both proteins contribute to compaction of the cytoplasmic surfaces in PNS myelin [23],... 

Two allelic trembler mutations, which affect only the PNS, result from different point mutations in transmembrane domains of peripheral myelin protein-22 (PMP-22) [1,45] (Table 4-2). The trembler phenotypes are characterized by hypomyelination, continued Schwann cell proliferation and partial paralysis of the limbs. These murine mutants are animal models for some of the inherited human neuropathies caused by abnormalities of the... 

Lemke, G., Lamar, E. and Patterson, J. Isolation and analysis of the gene encoding peripheral myelin-protein zero. Neuron 1 73-83,1988. 

Gabriel, C. M., Hughes, R. A., Moore, S. E., Smith, J. J. and Walsh, F. S. Induction of experimental autoimmune neuritis with peripheral myelin protein-22. Brain 121 1895-1902,1998. 

Suter, U., Moskow, J. J., Welcher, A. A. et al. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc. Natl Acad. Sci. U.S.A. 89 4382-4386,1992. 

NRTN neurturin PMP (i) peripheral myelin protein (ii) peroxisomal... 

Pmp22, peripheral myelin protein 22 kDa Peripheral myelin packing Sp, KO, ENU... 

Peripheral myelin protein 22 (PMP22) has a molecular weight of 22 kDa and represents 2-5% of the total myelin protein content. Despite its name, PMP22 is not specific to the PNS inasmuch as it is expressed, albeit at low levels, in other... 

Dickson, K.M., Bergeron, J.J., Shames, I., Colby, J., Nguyen, D.T., Chevet, E., Thomas, D.Y. and Snipes, G.J. (2002) Association of calnexin with mutant peripheral myelin protein-22 ex vivo a basis for gain-of-function ER diseases. Proc. Natl Acad. Sci. USA 99, 9852-9857. 

Naef R, Suter U. Many facets of the peripheral myelin protein PMP22 in myelination and disease. Micro Res Techniq 1998 41 359-71. 

Trask BJ, Pentao L, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type lA. Nature Genet 1992 1 159-65. 

Zoidl G, Blass-Kampmann S, D Urso D, Schmalen-bach C, MuUer HW. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells modulation of cell growth. EMBO J 1995 14 1122-8. 

The myelin formation is most often studied using microscopic analysis (including electron microscopy) of the immunocytochem-istry for specific proteins, such as myelin basic protein (MBP), protein zero, myelin associated glycoprotein (MAG), and peripheral myelin protein 22 [107, 108]. The same markers can also be evaluated by other protein assays (e.g., enzyme-linked immunosorbent assay (ELISA) and western blot) or at mRNA level using for example PCR or microarray assays. 

Name peripheral myelin protein, 22 kDa Chromosome 11 cM Position 34.S MGI Accession ID MC1 97631... 

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