The anatomy and cell biology of peripheral myelin protein-22

Annals of the New York Academy of Sciences

Volumn 883, Issue , 1999, Pages 143-151

  Snipes, G Jackson ^a   Orfali, Wayel ^a   Fraser, Andrew ^a   Dickson, Kathleen ^a   Colby, Joshua ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN; PMP22 PROTEIN, HUMAN; PMP22 PROTEIN, MOUSE;

ANIMAL; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOUSE; MOUSE MUTANT; PATHOPHYSIOLOGY; PHYSIOLOGY; REVIEW;

ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; HUMANS; MICE; MICE, NEUROLOGIC MUTANTS; MYELIN PROTEINS;

EID: 0033554335     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08577.x     Document Type: Article

References (45)

1. SUTER, U., A.A. WELCHER & G.J. SNIPES. 1993. Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system. Trends Neurosci. 16: 50-56.
2. WELCHER, A.A., M. DE LEON, U. SUTER, G.J. SNIPES, S.O. MEAKIN & E.M. SHOOTER. 1992. Isolation of transcriptionally regulated sequences associated with neuronal and non-neuronal cell interactions. Prog. Brain Res. 94: 163-176.
3. WELCHER, A.A., U. SUTER, M. DE LEON, G.J. SNIPES & E.M. SHOOTER. 1991. A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc. Natl. Acad. Sci. USA 88: 7195-7199.
4. SPREYER, P., G. KUHN, C.O. HANEMANN, C. GILLEN, H. SCHAAL, R. KUHN, G. LEMKE & H.W. MULLER. 1991. Axon-regulated expression of a Schwann cell transcript that is homologous to a "growth arrest-specific" gene. Embo J. 10: 3661-3668.
5. SCHNEIDER, C., R.M. KING & L. PHILIPSON. 1988. Genes specifically expressed at growth arrest of mammalian cells. Cell 54: 787-793.
6. UYEMURA, K. 1993. Functional glycoproteins expressed in Schwann cell membrane. Neurosci. Res. 16: 9-13.
7. SNIPES, G.J., U. SUTER, A.A. WELCHER & E.M. SHOOTER. 1992. Characterization of a novel peripheral nervous system myelin protein (PMP-22, SR13). J. Cell Biol. 117: 225-238.
8. HANEY, C., G.J. SNIPES, E.M. SHOOTER, U. SUTER, C. GARCIA, J.W. GRIFFIN & B.D. TRAPP. 1996. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type IA. J. Neuropathol. Exp. Neurol. 55: 290-299.
9. PAREEK, S., U. SUTER, G.J. SNIPES, A.A. WELCHER, E.M. SHOOTER & R.A. MURPHY. 1993. Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. J. Biol. Chem. 268: 10372-10379.
10. SUTER, U., A.A. WELCHER, T. OZCELIK, G.J. SNIPES, B. KOSARAS, U. FRANCKE, S. BILLINGS-GAGLIARDI, R.L. SIDMAN & E.M. SHOOTER. 1992. Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241-244.
11. SUTER, U., J.J. MOSKOW, A.A. WELCHER, G.J. SNIPES, B. KOSARAS, R.L. SIDMAN, A.M. BUCHBERG & E.M. SHOOTER. 1992. 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. USA 89: 4382-4386.
12. SNIPES, G.J. & U. SUTER. 1995. Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models. Brain Pathol. 5: 233-247.
13. LUPSKI, J.R., C.A. WISE, A. KUWANO, L. PENTAO, J.T. PARKE, D.G. GLAZE, D.H. LEDBETTER, F. GREENBERG & P.I. PATEL. 1992. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1: 29-33.
14. PATEL, P.I., B.B. ROA, A.A. WELCHER, R. SCHOENER-SCOTT, B.J. TRASK, L. PENTAO, G.J. SNIPES, C.A. GARCIA, U. FRANCKE, E.M. SHOOTER, et al. 1992. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type IA. Nat. Genet. 1: 159-165.
15. VALLAT, J.M., P. SINDOU, P.M. PREUX, F. TABARAUD, A.M. MILOR, P. COURATIER, E. LEGUERN & A. BRICE. 1996. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann. Neurol. 39:813-817.
16. ROA, B.B., C.A. GARCIA, U. SUTER, D.A. KULPA, C.A. WISE, J. MUELLER, A.A. WELCHER, G.J. SNIPES, E.M. SHOOTER, P.I. PATEL, et al. 1993, Charcot-Marie-Tooth disease type IA: association with a spontaneous point mutation in the PMP22 gene. N. Engl. J. Med. 329: 96-101.
17. VALENTIJN, L.J., F. BAAS, R.A, WOLTERMAN, J.H. HOOGENDIJK, N.H. VAN DEN BOSCH, I. ZORN, A.W, GABREELS-FESTEN, M. DE VISSER, & P.A. BOLHUIS. 1992. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type IA. Nat. Genet. 2: 288-291.
18. IONASESCU, V.V., C.C. SEARBY, R. IONASESCU, S. CHATKUPT, N. PATEL & R. KOENIGSBERGER. 1997. Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene. Muscle Nerve 20: 97-99.
19. MANFIOLETTI, G., M.E. RUARO, G. DEL SAL, L. PHILIPSON & C. SCHNEIDER. 1990. A growth arrest-specific (gas) gene codes for a membrane protein. Mol. Cell Biol. 10: 2924-2930.
20. D'URSO, D. & H.W. MULLER. 1997. Ins and outs of peripheral myelin protein-22: mapping transmembrane topology and intracellular sorting. J. Neurosci. Res. 49: 551-562.
21. PAREEK, S., L. NOTTERPEK, G.J. SNIPES, R. NAEF, W. SOSSIN, J. LALIBERTE, S. IACAMPO, U. SUTER, E.M. SHOOTER & R.A. MURPHY. 1997. Neurons promote the translocation of peripheral myelin protein 22 into myelin. J. Neurosci. 17: 7754-7762.
22. D'URSO, D., P.J. BROPHY, S.M. STAUGAITIS, C.S. GILLESPIE, A.B. FREY, J.G. STEMPAK, & D.R. COLMAN, 1990. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 4: 449-460.
23. SNIPES, G.J., U. SUTER & E.M. SHOOTER. 1993. Human peripheral myelin protein-22 carries the L2/HNK-I carbohydrate adhesion epitope. J. Neurochem. 6: 1961-1964.
24. 0, and other 19-to 28-kDa glycoproteins in peripheral nerve myelin of mammals and fish with HNK 1 and related antibodies. J. Neurosci. Res. 35: 546-558.
25. 0 expresses the L2/HNK-1 and L3 carbohydrate structures shared by neural adhesion molecules. Neurosci. Lett. 82: 77-82.
26. 0 in serum from patients with monoclonal IgM gammopathy and polyneuropathy. Neurology 38: 1266-1270.
27. NOTRERPEK, L., G.J. SNIPES & E.M. SHOOTER. 1999. In vitro studies support multiple roles for PMP22 in peripheral nerve myelination. Glia 25: 358-369.
28. NAEF, R., K. ADLKOFER, B. LESCHER & U. SUTER. 1997. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol. Cell. Neurosci. 9: 13-25.
29. D'URSO, D., R. PRIOR, R. GREINER-PETTER, A.A. GABREELS-FESTEN & H.W. MULLER. 1998. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J. Neurosci. 18: 731-740.
30. ADLKOFER, K., R. NAEF & U. SUTER. 1997. Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele. J. Neurosci, Res. 49: 671-680.
31. NOTRERPEK, L., E.M. SHOOTER & G.J. SNIPES. 1997. Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy. J. Neurosci. 17: 4190-4200.
32. BUSCA, R., M. MARTINEZ, E. VILELLA, P. POGNONEC, S. DEEB, J. AUWERX, M. REINA & S. VILARO. 1996. The mutation Gly142-→Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. J. Biol. Chem. 271: 2139-2146.
33. ZOIDL, G., S. BLASS-KAMPMANN, D. D'URSO, C. SCHMALENBACH & H.W. MULLER. 1995. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. Embo J. 14: 1122-1128.
34. FABBRETTI, E., P. EDOMI, C. BRANCOLINI & C. SCHNEIDER. 1995. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev. 9: 1846-1856.
35. SUTER, U. & G.J. SNIPES. 1995. Biology and genetics of hereditary motor and sensory neuropathies. Annu. Rev. Neurosci. 18: 45-75.
36. SUTER, U., G.J. SNIPES, R. SCHOENER-SCOTT, A.A. WELCHER, S. PAREEK, J.R. LUPSKI, R.A. MURPHY, E.M. SHOOTER & P.I. PATEL. 1994. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J. Biol. Chem. 269: 25795-25808.
37. PARMANTIER, E., C. BRAUN, J.L. THOMAS, F. PEYRON, S. MARTINEZ & B. ZALC. 1997. PMP-22 expression in the central nervous system of the embryonic mouse defines potential transverse segments and longitudinal columns. J. Comp. Neurol. 378: 159-172.
38. SNIPES, G.J. & U. SUTER. 1995. Molecular anatomy and genetics of myelin proteins in the peripheral nervous system. J. Anat. 186: 483-494.
39. HAMMOND, C. & A. HELENIUS. 1995. Quality control in the secretory pathway. Curr. Opin. Cell Biol. 7: 523-529.
40. VAN DER WAL, F.J., J.D. OLIVER & S. HIGH. 1998. The transient association of ERp57 with N-glycosylated proteins is regulated by glucose trimming. Eur. J. Biochem. 256: 51-59.
41. KOWALSKI, J.M., R.N. PAREKH, J. MAO & K.D. WITTRUP. 1998. Protein folding stability can determine the efficiency of escape from endoplasmic reticulum quality control. J. Biol. Chem. 273: 19453-19458.
42. KOPITO, R.R. 1997. ER quality control: the cytoplasmic connection. Cell 88: 427-430.
43. KELLER, S.H., J. LINDSTROM & P. TAYLOR. 1998. Inhibition of glucose trimming with castanospermine reduces calnexin association and promotes proteasome degradation of the alpha-subunit of the nicotinic acetylcholine receptor. J. Biol. Chem. 273: 17064-17072.
44. KOVAL, M., J.E. HARLEY, E. HICK & T.H. STEINBERG, 1997. Connexin46 is retained as monomers in a trans-Golgi compartment of osteoblastic cells. J. Cell Biol. 137: 847-857.
45. OKADA, Y., H. YAMAZAKI, Y. SEKINE-AIZAWA & N. HIROKAWA. 1995. The neuron-specific kinesin superfamily protein KIFIA is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. Cell 81: 769-780.