Many facets of the peripheral myelin protein PMP22 in myelination and disease

Microscopy Research and Technique

Volumn 41, Issue 5, 1998, Pages 359-371

  Naef, Roland ^a   Suter, Ueli ^a  

^a ETH ZURICH   (Switzerland)

Author keywords

Charcot Marie Tooth disease; Hereditary neuropathy with liability to pressure palsies; PMP22

Indexed keywords

CELL PROLIFERATION; MOLECULAR BIOLOGY; NEURONS;

CHARCOT-MARIE-TOOTH DISEASE; DELETION MUTATIONS; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HYDROPHOBICS; MOLECULAR GENETICS; MYELINATION; PERIPHERAL MYELIN PROTEIN 22; PERIPHERAL NERVOUS SYSTEM; RECENT PROGRESS; SCHWANN CELLS;

PROTEINS;

MYELIN PROTEIN;

ANIMAL MODEL; ARTICLE; CELL DIFFERENTIATION; CELL PROLIFERATION; GENE EXPRESSION REGULATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MYELINATION; NONHUMAN; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SCHWANN CELL;

ANIMALIA;

EID: 0032103882     PISSN: 1059910X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0029(19980601)41:5<359::AID-JEMT3>3.0.CO;2-L     Document Type: Article

References (153)

1. Adlkofer, K., Martini, R., Aguzzi, A., Zielasek, J., Toyka, K. V., and Suter, U. (1995) Hypermyelination and demyelinating peripheral neuropathy in pmp22-deficient mice. Nat. Genet., 11:274-280.
2. Adlkofer, K., Naef, R., and Suter, U. (1997a) Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele. J. Neurosci. Res., 49:671-680.
3. Adlkofer, K., Frei, R., Neuberg, D. H., Zielasek, J., Toyka, K. V., and Suter, U. (1997b) Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J. Neurosci., 17:4662-4671.
4. Aguayo, A. J., Attiwell, M., Trecarten, J., Perkins, S., and Bray, G. M. (1977)Abnormal myelination in transplanted Trembler mouse Schwann cells. Nature, 265:73-75.
5. Ayers, M. M., and Anderson, R. M. (1973) Onion bulb neuropathy in the trembler mouse: A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man. Acta Neuropathol., 25:54-70.
6. Ayers, M. M., and Anderson, R. (1975) Development of onion bulb neuropathy in the Trembler mouse. Comparison with normal nerve maturation. Acta Neuropathol., 32:43-59.
7. Ayers, M. M., and Anderson, R. M. (1976) Development of onion bulb neuropathy in the Trembler mouse. Morphometric study: Acta Neuropathol., 36:137-152.
8. Baechner, D., Liehr, T., Hameister, H., Altenberger, H., Grehl, H., Suter, U., and Rautenstrauss, B. (1995) Widespread expression of the peripheral myelin protein-22 gene (PMP22) in the neural and non-neural tissues during murine development. J. Neurosci. Res., 42:733-741.
9. Bartoszewics, Z. P., Lauter, C. J., and Quarles, R. H. (1996) The myelin-asaociated glycoprotein of the peripheral nervous system in trembler mutants contains increased a2-3 sialic acid and galactose. J. Neurosci. Res., 43:587-593.
10. Bascles, L., Bonnet, J., and Garbay, B. (1992) Expression of the PMP22 gene in trembler mutant mice: Comparison with the other myelin protein genes. Dev. Neurosci., 14:336-341.
11. Ben-Porath, I., and Benvenisty, N. (1996) Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins. Gene, 183:69-75.
12. Birouk, N., Gouider, R., Le Guern, E., Gugenheim, M., Tardieu, S., Maisonobe, T., Le Forestier, N., Agid, Y., Brice, A., and Bouche, P. (1997) Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain, 120:813-823.
13. Boiron-Sargueil, F., Heape, A., Garbay, B., and Cassagne, C. (1995) Cerebroside formation in the peripheral nervous system of normal and Trembler mice. Neurosci. Lett., 186:21-24.
14. Bolin, L. M., McNeil, T., Lucian, L. A., DeVaux, B., Franz-Bacon, K., German, D. M., Zurawski, S., Murray, R., and McClanahan, T. K. (1997) HNMP-1: A novel hematopoietic and neural membrane protein differentially regulated in neural development and injury. J. Neurosci., 17:5493-5502.
15. Bort, S., Nelis, E., Timmerman, V., Sevilla, T., Cruz-Martinez, A., Martinez, F., Millan, J. M., Arpa, J., Vilchez, J. J., Prieto, F., Van Broeckhoven, C., and Palau, F. (1997) Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum. Genet., 99:746-754.
16. Bosse, F., Zoidl, G., Wilms, S., Gillen, C. P., Kuhn, H. G., and Muller, H. W. (1994) Differential expression of two mRNA species indicates a dual function of the peripheral myelin protein PMP22 in cell growth and myelination. J. Neurosci. Res., 37:529-537.
17. Bronstein, J. M., Popper, P., Micevych, P. E., and Farber, D. B. (1996) Isolation and characterization of a novel oligodendrocyte-specific protein. Neurology, 47:772-778.
18. Chance, P. F., Bird, T. D., Matsunami, N., Lensch, M. W., Brothman, A. R., and Feldman, G. M. (1992) Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A. Neurology, 42:2295-2299.
19. Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Mateunami, N., Smith, B., Swanson, P. D., Odelberg, S. J., Disteche, C. M., and Bird, T. D. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell, 72:143-151.
20. Chance, P. F., Abbas, N., Lensch, M. W., Pentao, L., Roa, B. B., Patel, P. I., and Lupski, J. R. (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet., 3: 223-228.
21. Ciccarelli, C., Philipson, L., and Sorrentino, V. (1990) Regulation of expression of growth arrest-specific genes in mouse fibroblasts. Mol. Cell. Biol., 10:1525-1529.
22. Cruz-Martinez, A., Bort, S., Arpa, J., Duarte, J., and Palau, F. (1997) Clinical, genetic and electrophysiological correlation in hereditary neuropathy with liability to pressure palsies with involvement of the PMP22 gene at chromosome 17. Eur. J. Neurol., 4:274-286.
23. D'Urso, D., and Muller, H. W. (1997) Ins and outs of peripheral myelin protein-22: Mapping transmembrane topology and intracellular sorting. J. Neurosci. Res., 49:551-562.
24. D'Urso, D., Schmalenbach, C., Zoidl, G., Prior, R., and Muller, H. W. (1997) Studies on the effects of altered PMP22 expression during myelination in vitro. J. Neurosci. Res., 48:31-42.
25. D'Urso, D., Prior, R., Greiner-Petter, R., Gabreels-Festen, A. A. W. M., and Muller, H. W. (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.
26. de Waegh, S. M., Lee, V. M., and Brady, S. T. (1992) Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell, 68:451-463.
27. Dyck, P. J., Chance, P. F., Lebo, R., and Carney, J. A. (1993) Hereditary motor and sensory neuropathies. In: Peripheral Neuropathies, 3rd ed. P. J. Dyck, P. K. Thomas, J. W. Griffin, P. A. Low, and J. F. Podulso, eds. W. B. Saunders, Philadelphia, pp. 1094-1136.
28. Fabbretti, E., Edomi, P., Brancolini, C., and Schneider, C. (1995) Apoptotic phenotype induced by overexpression of wild-type gas3/ PMP22: Its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev., 9:1846-1856.
29. Falconer, D. S. (1951) Two new mutants "Trembler" and "Reeler" with neurological actions in the house mouse. Genetics, 50:192-201
30. Fischer, I., and Sapirstein, V. S. (1994) Molecular cloning of plasmolipin. Characterization of a novel proteolipid restricted to brain and kidney. J. Biol. Chem., 269:24912-24919.
31. Friedman, H. C., Jelsma, T. N., Bray, G. M., and Aguayo, A. J. (1996) A distinct pattern of trophic factor expression in myelin-deficient nerves of Trembler mice: implications for trophic support by Schwann cells. J. Neurosci., 16:5344-5350.
32. Gabreels-Festen, A. A. W. M., Gabreels, F. J. M., and Jennekens, F. G. I. (1993) Hereditary motor and sensory neuropathies: Present status of types I, II and III. Clin. Neurol. Neurosurg., 95:93-107.
33. Gabreels-Festen, A. A. W. M., Bolhuis, P. A., Hoogendijk, J. E., Valentijn, L. J., Eshuis, E. J. H. M., and Gabreels, F. J. M. (1995) Charcot-Marie-Tooth disease type 1A: Morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol., 90:645-649.
34. Galvan, A., Lampe, P. D., Hur, K. C., Howard, J. B., Eccleston, E. D., Arneson, M., and Louis, C. F. (1989) Structural organization of the lens fiber cell plasma membrane protein MP18. J. Biol. Chem., 264:19974-19978.
35. Garbay, B., and Bonnet, J. (1992) P0 protein in normal, trembler heterozygous/homozygous mice during active PNS myelination. Neuroreport, 3:594-596.
36. Garbay, B., and Cassagne, C. (1994) Expression of the ceramide galactosyltransferase gene during myelination of the mouse nervous system. Comparison with the genes encoding myelin basic proteins, choline kinase and CTP:phosphocholine cytidyltransferase. Dev. Brain Res., 83:119-124.
37. Garbay, B., Boiron-Sargueil, F., and Cassagne, C. (1995) Expression of the exon 1A-containing PMP22 transcript is altered in the trembler mouse. Neurosci. Lett., 198:157-160.
38. Garcia, C. A., Malamut, R. E., England, J. D., Parry, G. S., Liu, P., and Lupski, J. R. (1995) Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology, 45:2090-2093.
39. Gillen, G., Gleichmann, M., Greiner-Petter, R., Zoidl, G., Kupfer, S., Bosse, F., Auer, J., and Müller, H. W. (1996) Full-length cloning, expression and cellular localization of rat plasmolipm mRNA, a proteolipid of PNS and CNS. Eur. J. Neurosci., 8:405-414.
40. Gow, A. (1997) Redifining the lipophilin family of proteolipid proteins. J. Neurosci. Res., 50:659-664.
41. Hammer, J. A., O'Shannessy, D. J., De Leon, M., Gould, R., Zand, D., Daune, G., and Quarles, R. H. (1993) Immunoreactivity of PMP-22, P0, and other 19 to 28 kDa glycoproteins in peripheral nerve myelin of mammals and fish with HNK1 and related antibodies. J. Neurochem., 35:546-558.
42. Hanemann, C. O., Stoll, G., D'Urso, D., Fricke, W., Martin, J. J., Van Broeckhoven, C., Mancardi, G. L., Bartke, I., and Mueller, H. W. (1994) Peripheral Myelin Protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J. Neurosci. Res., 37:654-659.
43. Hanemann, C. O., Gabreels-Festen, A. A. W. M., Muller, H. W., and Stoll, G. (1996) Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages. Brain, 119:1461-1469.
44. Hancy, C., Snipes, G. J., Shooter, E. M., Suter, U., Garcia, C., Griffin, J. W., and Trapp, B. D. (1996) Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. J. Neuropathol. Exp. Neurol., 55:290-299.
45. Harding, A. E. (1995) From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain, 118:809-818.
46. Heape, A. M., Bessoule, J. J., Boiron-Sargueil, F., Garbay, B., and Cassagne, C. (1995) Sphingolipid metabolic disorders in Trembler mouse peripheral nerves in vivo result from an abnormal substrate supply. J. Neurochem., 65:1665-1673.
47. Heape, A. M., Bessoule, J. J., Boiron-Sargueil, F., and Cassagne, C. (1996) Pathways of incorporation of fatty acid into glycerolipids of the murine peripheral nervous system in vivo: Alterations in the dysmyelinating mutant trembler mouse. Neurochem. Int., 29:607-622.
48. Heath, J. W., Inuzuka, T., Quarles, R. H., and Trapp, B. D. (1991) Distribution of P0 protein and the myelin-associated glycoprotein in peripheral nerves from Trembler mice. J. Neurocytol., 20:439-449.
49. Henry, E. W., and Sidman, R. L. (1988) Long lives for homozygous trembler mutant mice despite virtual absence of peripheral myelin. Science, 241:344-346.
50. Henry, E. W., Cowen, J. S., and Sidman, K. L. (1983) Comparison of trembler and trembler-J phenotypes: Varying severity of peripheral hypomyelination. J. Neuropathol. Exp. Neurol., 42:688-706.
51. Huxley, C., Passage, E., Manson, A., Putzu, G., Figarella-Branger, D., Pellisier, J. F., and Fontes, M. (1996) Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum. Mol. Genet., 5:563-569.
52. Inuzuka, T., Quarles, R. H., Heath, J., and Trapp, B. D. (1985) Myelin-associated glycoprotein and other proteins in Trembler mice. J. Neurochem.,44:793-797.
53. Ionasescu, V. V., Ionaseseu, R., Searby, C., and Neahring, R. (1995) Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. Neurology, 45:1766-1767.
54. Ionasescu, V. V., Searby, C., and Greenberg, S. A. (1996) Dejerine Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: De Novo dominant point mutation of the PMP22 gene. J. Med. Genet., 33:1048-1049.
55. Ionasescu, V. V., Searby, C. C., Ionasescu, R., Chatkupt, R., Patel, N., and Koenigsberger, R. (1997) Dejerine Sottas neuropathy in mother and son with same point mutation of PMP22 gene. Muscle Nerve, 20:97-99.
56. Jung, M., Sommer, I., Schachner, M., and Nave, K. A. (1996) Monoclonal antibody O10 defines a confortnationally sensitive cell-surface epitope of proteolipid protein (PLP): Evidence that PLP misfolding underlies dysmyelination in mutant mice. J. Neurosci., 16:7920-7929.
57. Kaku, D. A., Parry, G. J., Malamut, R., Lupski, J. R., and Garcia, C. A. (1993) Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with segmental duplication of chromosome 17. Neurology, 43:1806-1808.
58. Kamholz, J., Shy, M., and Scherer, S. (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol., 36:451-452.
59. Killian, J. M., and Kloepfer, H. W. (1979) Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. Ann. Neurol., 5:515-522.
60. Kim, T., Fiedler, K., Madison, D. L., Krueger, W. H., and Pfeiffer, S. E. (1995) Cloning and characterization of MVP17: A developmentally regulated myelin protein in oligodendrocytes. J. Neurosci. Res., 42:413-422.
61. Kirkpatrick, L. L., and Brady, S. T. (1994) Modulation of the axonal microtubule cytoskeleton by myelinating Schwann cells. J. Neurosci., 14:7440-7450.
62. Kirschner, D. A., and Sidman, R. L. (1976) X-ray diffraction study of myelin structure in immature and mutant mice. Biochim. Biophys. Acta, 448:73-87.
63. Kitamura, K., Suzuki, M., and Uyemura, K. (1976) Purification and partial characterization of two glycoproteins in bovine peripheral nerve myelin membrane. Biochim. Biophys. Acta, 455:806-816.
64. Koehler, N. K., Martin, R., and Wietholter, H. (1996) The antibody repertoire in experimental allergic neuritis: evidence for PMP-22 as a novel neuritogen. J. Neuroimmunol., 71:179-189.
65. Kumar, N. M., Jarvis, L. J., Tenbroek, E., and Louis, C. F. (1993) Cloning and expression of a major rat lens membrane protein, MP20. Exp. Eye Res., 56:35-43.
66. Kühn, R., Schwenk, F., Aguet, M., and Rajewsky, K. (1995) Inducible gene targeting in mice. Science, 269:1427-1429.
67. Le Guern, E., Gouider, R., Mabin, D., Tardieu, S., Birouk, N., Parent, P., Bouche, P., and Brice, A. (1997) Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann. Neurol., 41:104-108.
68. Lobsiger, C. S., Magyar, J. P., Taylor, V., Wulf, P., Welcher, A. A., AMGEN Est Program., and Suter, U. (1996): Identification and characterization of a cDNA and the structural gene encoding the mouse epithelial membrane protein-1. Genomics, 36:379-387.
69. Lopes, J., Vandenberghe, A., Tardieu, S., Ionasescu, V., Levy, N., Wood, N., Tachi, N., Bouche, P., Latour, P., Brice, A., and LeGuern, E. (1997) Sex-dependent rearrangements resulting in CMT1A and HNPP. Nat. Genet., 17:136-137.
70. Low, P. A., and McLeod, J. G. (1975) Hereditary demyelinating neuropathy in the trembler mouse. J. Neurol. Sci., 26:565-575.
71. Low, P. A. (1976a) Hereditary hypertrophic neuropathy in the trembler mouse: Part 1: Histopathological studies: Light microscopy. J. Neurol. Sci., 30:327-341.
72. Low, P. A. (1976b) Hereditary hypertrophic neuropathy in the trembler mouse: Part 2: Histopathological studies: Electron microscopy. J. Neurol. Sci., 30:343-368.
73. Low, P. A. (1977) The evolution of "onion bulbs" in the hereditary hypertrophic neuropathy of the Trembler mouse. Neuropathol. Appl. Neurobiol., 3:81-92.
74. Lupski, J. R., Garcia, C. A., Parry, G. J., and Patel, P. I. (1991a) Charcot-Marie-Tooth polyneuropathy syndrome: clinical, elecrophysiological, and genetic aspects. In: Current Neurology. S. Appel, ed. Mosby-Yearbook, Chicago, pp. 1-25.
75. Lupski, J. R., de Oca Luna, R. M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., Chakravarti, A., and Patel, P. I. (1991b) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell, 66:219-232.
76. Lupski, J. R., Wise, C. A., Kuwano, A., Pentao, L., Parke, J. T., Glaze, D. G., Ledbetter, D. H., Greenberg, F., and Patel, P. I. (1992) Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A Nat. Genet., 1:29-33.
77. Magyar, J. P., Martini, R., Ruelicke, T., Aguzzi, A., Adlkofer, K., Dembic, Z., Zielasek, J., Toyka, K. V., and Suter, U. (1996) Impaired differentiation arrest of Schwann cells in transgenic mice with increased PMP22 gene dosage. J. Neurosci., 16:5351-5360.
78. Magyar, J. P., Ebensperger, C., Schaeren-Wiemers, N., and Suter, U. (1997) Myelin and lymphocyte protein (MAL/MVP17/VIP17) and plasmolipin are members of an extended gene family. Gene, 189:269-275.
79. Manfioletti, G., Ruaro, M. E., Del Sal, G., Philipson, L., and Schneider, C. (1990) A growth arrest-specific (gas) gene codes for a membrane protein. Mol. Cell. Biol., 10:2924-2930.
80. Marrosu, M. G., Vaccarigiu, S., Marrosu, G., Vannelli, A., Cianchetti, C., and Muntoni, F. (1997) A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. Neurology, 48:489-493.
81. Martini, R. (1997) Animal models for inherited peripheral neuropathies. J. Anat., 191:321-336.
82. Marvin, K. W., Fujimoto, W., and Jetten, A. M. (1995) Identification and characterization of a novel squamous cell-associated gene related to PMP22. J. Biol. Chem., 270:28910-28916.
83. Matsunami, N., Smith, B., Ballard, L., Lensch, M. W., Robertson, M., Albertsen, H., Hanemann, C. O., Muller, H. W., Bird, T. D., White, R., and Chance, P. F. (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet., 1:176-179.
84. Maycox, P. R., Ortuno, D., Burrola, P., Kuhn, R., Bieri, P. L., Arrezo, J. C., and Lemke, G. (1997) A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies. Mol. Cell. Neurosci., 8:405-416.
85. Mithen, F. A., Cochran, M, Cornbrooks, C. J., and Bunge, R. P. (1982) Expression of the trembler mouse mutation in organotypic cultures of dorsal root ganglia. Brain Res., 256:407-415.
86. Mulders, J. W. M., Vooter, C. E. M., Lamers, C., de Haard-Hoekman, W. A., Montecucco, C., van den Ven, W. J. M., Bloemendal, H., and de Jong, W. W. (1988) MP17, a fiber-specific intrinsic membrane protein from the mamalian eye. Curr. Eye Res., 7:207-219.
87. Muller, H. W., Suter, U., Van Broeckhoven, C. The HMSN Colaborative Research Group (1997) Advances in Charcot-Marie-Tooth disease research: Cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. Neurobiol. Dis., 4:215-220.
88. Naef, R., Adlkofer, K., Lescher, B., and Suter, U. (1997) Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol. Cell. Neurosci., 9:13-25.
89. Navon, R., Seifried, B., Gal-On, N. S., and Sadeh, M. (1996) A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease. Hum. Genet., 97:685-687.
90. Nelis, E., Van Broeckhoven, C., and Consortium, C. (1996) Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study. Eur. J. Hum. Genet., 4:25-33.
91. Nelis, E., Holmberg, B., Adolfsson, R., Holmgren, G., and Van Broeckhoven, C. (1997) PMP22 Thr(118)Met: Recessive CMT1 mutation or polymorphism. Nature Genet., 15:13-14.
92. Neri, C. L., Duchala, C. S., and Macklin, W. B. (1997) Expression of molecular chaperones and vesicle transport proteins in differentiating oligodendrocytes. J. Neurosci. Res.,50:769-780.
93. Nicholson, G. A., Valentijn, L. J., Cherryson, A. K., Kennerson, M. L., Bragg, T. L., DeKroon, R. M., Ross, D. A., Pollard, J. D., McLeod, J. G., Bolhuis, P. A., and Baas, F. (1994 ) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet., 6:263-266.
94. Nilson, T., and Warren, G. (1994) Retention and retrieval in the endoplasmic reticulum and the Golgi apparatus. Curr. Opin. Cell Biol., 6:517-521.
95. Notterpek, L., Shooter, E. M., and Snipes, G. J. (1997) Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy. J. Neurosci., 17:4190-4200.
96. Ohnishi, A. (1995) Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN). Rinsho Shinkeigaku (Japanese), 35:1438-1440.
97. Palau, F., Lofgren, A., De Jonghe, P. D., Bort, S., Nelis, E., Sevilla, T., Martin, J.-M., Vilchez, J., Prieto, F., and Van Broeckhoven, C. V. (1993) Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A. Unequal nonsister chromatid exchange during spermatogenesis Hum. Mol. Genet., 2:2031-2035.
98. Pareek, S., Suter, U., Snipes, G. J., Welcher, A. A., Shooter, E. M., and Murphy, R. A. (1993) Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. J. Biol. Chem., 268:10372-10379.
99. Pareek, S., Notterpek, L., Snipes, G. J., Naef, R., Sossin, W., Laliberté J., Iacampo, S., Suter, U., Shooter, E. M., and Murphy, R. A. (1987) Neurons promote the translocation of peripheral myelin protein 22 into myelin. J. Neurosci., 17:7754-7762.
100. Parmantier, E., Cabon, F., Braun, C., Urso, D. D., Muller, H. W., and Zalc, B. (1995) Peripheral meyelin protein-22 is expressed in rat and mouse brain and spinal cord motorneurons. Eur. J. Neurosci., 7:1080-1088.
101. Parmantier, E., Braun, C., Thomas, J. L., Peyron, F., Martinez, S., and Zalc, B. (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.
102. Patel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., Lupski, J. R., and Suter, U. (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1:159-165.
103. Pentao, L., Wise, C. A., Chinault, A. C., Patel, P. I., and Lupski, J. R. (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet., 2:292-300.
104. Perkins, C. S., Aguayo, A. J., and Bray, G. M. (1981) Schwann cell multiplication in Trembler mice. Neuropathol. Appl. Neurobiol., 7:115-126.
105. Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendjjk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., Bolhuis, P. A. and Van Broeckhoven, C. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromusc. Disord., 1: 93-97.
106. Reiter, L. T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D. M., Gibbs, R. A., and Lupski, J. R. (1996) A recombination hot spot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nature Genet., 12:288-297.
107. Reiter, L. T., Murakami, T., Koeuth, T., Gibbs, R. A., and Lupski, J.R. (1997) The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum. Mol. Genet., 6:1595-1603.
108. Roa, B. B., Garcia, C. A., Suter, U., Kulpa, D. A., Wise, C. A., Mueller J., Welcher, A. A., Snipes, G. J., Shooter, E. M., Patel, P. I., and Lupski, J. R. (1993a) Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene. N. Engl. J. Med., 329:96-101.
109. Roa, B. B., Dyck, P. J., Marks, H. G., Chance, P. F., and Lupski, J. R. (1993b) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet., 5:269-272.
110. Roa, B. B., Garcia, C. A., Pentao, L., Killian, J. M., Trask, B. J., Suter, U., Snipes, G. J., Shooter, E. M., Patel, P. I., and Lupski, J. R. (1993c) Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet., 5:189-194.
111. Roa, B. B., Ananth, U., Garcia, C. A., and Lupski, J. R. (1995) Molecular diagnosis of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. LabMedica Int., 12:22-24.
112. Robertson, A. M., King, R. H., Muddle, J. R., and Thomas, P. K. (1997) Abnormal Schwann cell/axon interactions in the Trembler-J mouse. J. Anat., 190:423-432.
113. Ruegg, C. L., Wu, H. Y., Fagnoni, F. F., Engleman, E. G., and Laus, R. (1996) B4B, a novel growth-arrest gene, is expressed by a subset of progenitor/pre-B lymphocytes negative for cytoplasmic mu-chain. J. Immunol., 157:72-80.
114. Schachner, M., and Martini, R. (1995) Glycans and the modulation of neural-recognition molecule function. Trends Neurosci., 18:183-191.
115. Schaeren-Wiemers, N., Valenzuela, D. M., Frank, M., and Schwab, M. E. (1995) Characterization of a rat gene, rMAL, encoding a protein with four hydrophobic domains in central and peripheral myelin. J. Neurosci., 15:5753-5764.
116. Schenone, A., Nobbio, L., Mandich, P., Bellone, E., Abbruzzese, M., Aymar, F., Mancardi, G. L., and Windebank, A. J. (1997) Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology, 48:446-449.
117. Schiemann, S., Ruckels, M., Engelholm, L. H., Schwirzke, M., Brunner, N., and Weidle, U. H. (1997) Differential gene expression in human mammary carcinoma cells: identification of a new member of a receptor family. Anticancer Res., 17:13-20.
118. Schneider, C., King, R. M., and Philipson, L. (1988) Genes specially expressed at growth arrest of mammalian cells. Cell, 54:787-792.
119. Sereda, M., Griffiths, I., Pühlhofer, A., Stewart, H., Rossner, M. J., Zimmermann, F., Magyar, J. P., Schneider, A., Hund, E., Meinck, H.-M., Suter, U., and Nave, K.-A. (1996) A transgenic rat model of Charcot-Marie-Tooth disease. Neuron, 16:1049-1060.
120. Snipes, G. J., and Suter, U. (1994) Signaling pathways mediating axon-Schwann cell interactions. Trends Neurosci., 17:399-401.
121. Snipes, G. J. and Suter, U. (1995) Molecular basis of common hereditary motor and sensory neuropathies in human and in mouse models. Brain Pathol., 5:233-247.
122. Snipes, G. J., Suter, U., Welcher, A. A., and Shooter, E. M. (1992) Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J. Cell Biol., 117:225-238.
123. Snipes, G. J., Suter, U., and Shooter, E. M. (1993) Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate epitope. J. Neurochem., 61:1961-1964.
124. Spreyer, P., Kuhn, G., Hanemann, C. O., Gillen, C., Schaal, H., Kuhn, R., Lemke, G., and Muller, H. W. (1991) Axon-regulated expression of a Schwann cell transcript that is homologous to a "growth arrest-specific"gene. EMBO J., 10:3661-3668.
125. Sturtz, F. G., Latour, P., Mocquard, Y., Cruz, S., Fenoll, B., LeFur, J. M., Mabin, D., Chazot, G., and Vandenberghe, A. (1997) Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease. Eur. Neurol., 38:26-30.
126. Sun, J. G., Ichihara, N., Saigoh, K., Nakabayashi, O., Yamanishi, T., Tanaka, K., Wada, K., and Kikuchi, T. (1997) An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the Schwann cells in the new Trembler mutant mice. Neuroscience, 79:735-744.
127. Suter, U., and Snipes, G. J. (1995a) Peripheral myelin protein 22: Facts and hypotheses. J. Neurosci. Res., 40:145-151.
128. Suter, U., and Snipes, G. J. (1995b) Biology and genetics of hereditary motor and sensory neuropathies. Ann. Rev. Neurosci., 18:45-75.
129. Suter, U., Welcher, A. A., Ozcelik, T., Snipes, G. J., Kosaras, B., Francke, U., Billings, G. S., Sidman, R. L., and Shooter, E. M. (1992a) Trembler mouse carries a point mutation in a myelin gene. Nature, 356:241-244.
130. Suter, U., Moskow, J. J., Welcer, A. A., Snipes, G. J., Kosaras, B., Sidman, R. L., Buchberg, A. M., and Shooter, E. M. (1992b) 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.
131. Suter, U., Welcher, A. A., and Snipes, G. J. (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.
132. Suter, U., Snipes, G. J., Schoener-Scott, R., Welcher, A. A., Pareek, S., Lupski, J. R., Murphy, R. A., Shooter, E. M., and Patel, P. I. (1994) Regulation of tissue-specific expression of alternative peripheral meyelin protein-22 (PMP22) gene transcripts by two promoters. J. Biol. Chem., 269:25795-25808.
133. Taylor, V., and Suter, U. (1996) Epithelial membrane protein-2 and epithelial membrane protein-3: Two novel members of the peripheral myelin preotin 22 gene family. Gene, 175:115-120.
134. Taylor, V., Welcher, A. A., AMGEN Est Program., and Suter, U. (1995) Epithelial membrane protein-1, peripheral myelin protein 22 and lens membrane protein 20 define a novel gene family. J. Biol. Chem., 270:28824-28833.
135. Thomas, F. P., Lebo, R. V., Rosoklija, G., Ding, X.-S., Lovelance, R. E., Latov, N., and Hays, A. P. (1994)Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol., 87: 91-97.
136. Thomas, P. K., Marques, W., Jr., Davis, M. B., Sweeney, M. G., King, R. H., Bradley, J. L., Muddle, J. R., Tyson, J., Malcolm, S., and Harding, A. E. (1997) The phenotypic manifestations of chromosome 17p11.2 duplication. Brain, 120:465-478.
137. Timmerman, V., Nelis, E., Van Hui, W., Nieuwenhuijsen. B. W., Chen, K. L., Wang, S., Ben Othman, K., Cullen, B., Leach, R. J., Hanemann, C. O., De Jonghe, P., Raeymaekers, P, van Ommen, G.-J. B., Martin, J.-J., Muller, H. W., Vance, J. M., Fischbeck, K. H., and Van Broeckhoven, C. (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet., 1:171-175.
138. Toyka, K. V., Zielasek, J., Ricker, K., Adlkofer, K., and Suter, U. (1997) Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene. J. Neurol. Neurosurg. Psych., 63:812-813.
139. Tyson, J., Ellis, D., Fairbrother, U., King, R. H., Muntoni, F., Jacobs, J., Malcolm, S., Harding, A. E., and Thomas, P. K. (1997) Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain, 120:47-63.
140. Valentijn, L. J., Bolhuis, P. A., Zorn, I., Hoogendijk, J. E., van den Bosch, N., Hensels, G. W., Stanton, J., V.P., Housman, D. E., Fischbeck, K. H., Ross, D. A., Nicholson, G. A., Meershoek, E. J., Dauwerse, H. G., van Ommen, G.-J. B., and Bass, F. (1992a) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet., 1:166-170.
141. Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., Bosch, N. H. A., Zorn, I., Gabreels-Festen, A. A. W. M., de Visser, M., and Bolhuis, P. A. (1992b) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1a. Nature Genet., 2:288-291.
142. Valentijn, L. J., Ouvrier, R. A., van den Bosch, N. H., Bolhuis, P. A., Baas, F., and Nicholson, G. A. (1995) Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation. Hum. Mutat., 5:76-80.
143. Vallat, J. M., Sindou, P., Preux, P. M., Tabaraud, F., Milor, A. M., Couratier, P., LeGuern, E., and Brice, A. (1996) Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann. Neurol., 39:813-817.
144. Ward, C. L., and Kopito, R. R. (1994) Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins. J. Biol. Chem., 269:25710-25718.
145. Warner, L. E., Roa, B. B., and Lupski, J. R. (1996) Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. Hum. Mutat., 8:362-365.
146. Welcher, A. A., Suter, U., De Leon, M., Snipes, G. J., and Shooter, E. M. (1991) A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc. Natl. Acad. Sci. U.S.A., 88:7195-7199.
147. Windebank, A. J. (1993) Inherited recurrent neuropathy. In: Peripheral Neuropathy. P. J. Dyck, P. K. Thomas, J. W. Griffin, P. A. Low, and J. F. Poduslo, eds. WB Saunders Company, Philadelphia, pp. 1094-1136.
148. Wise, C. A., Garcia, C. A., Davis, S. N., Heju, Z., Pentao, L., Patel, P. I., and Lupski, J. R. (1993) Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1Aduplication. Am. J. Hum. Genet., 53:853-863.
149. Wistow, G. (1993) Lens crystalling: Gene recruitment and evolutionary dynamism. Trends Biochem., 18:301-306.
150. Yoshikawa, H., Nishimura, T., Nakatsuji, Y., Fujimura, H., Himoro, M., Hayasaka, K., Sakoda, S., and Yamigara, T. (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol., 35:445-450.
151. Young, P., Wiebusch, H., Stogbauer, F., Ringelstein, B., Assmann, G., and Funke, H. (1997) A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Neurology, 48:450-452.
152. Zoidl, G., Blass-Kampmann, S., D'Urso, D., Schmalenbach, C., and Muller, H. W. (1995) Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth. EMBO J., 14:1122-1128.
153. Zoidl, G., D'Urso, D., Blass-Kampmann, S., Schmalenbach, C., Kuhn, R., and Muller, H. W. (1997) Influence of elevated expression of rat wild-type PMP22 and its mutant PMP22Trembler on cell growth of NIH3T3 fibroblasts. Cell Tissue Res., 287:459-470.