Molecular genetics of inherited peripheral neuropathies : Who are the actors ?

Acta Neurologica Belgica

Volumn 100, Issue 3, 2000, Pages 171-180

  Meuleman, Jan ^a   Timmerman, Vincent ^a   Nelis, Eva ^a   De Jonghe, Peter ^a,b,c  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; GAP JUNCTION PROTEIN; MYELIN PROTEIN; PMP22 PROTEIN, HUMAN;

ANIMAL; GENETIC LINKAGE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; METHODOLOGY; MOLECULAR BIOLOGY; MUTATION; PERIPHERAL NEUROPATHY; REVIEW;

ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; LINKAGE (GENETICS); MOLECULAR BIOLOGY; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 0034277867     PISSN: 03009009     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (86)

1. AINSWORTH P. J., BOLTON C. F., MURPHY B. C., STUART J. A., HAHN A. F. Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene. Hum. Genet., 1998, 103 : 242-4.
2. BALICE-GORDON R. J., BONE L. J., SCHERER S. S. Functional gap junctions in the schwann cell myelin sheath. J. Cell Biol., 1998, 142 : 1095-104.
3. BERGOFFEN J., SCHERER S. S., WANG S., SCOTT M. O., BONE L. J., PAUL D. L. et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science, 1993, 262 : 2039-42.
4. BOLINO A., BRANCOLINI V., BONO F., BRUNI A., GAMBARDELLA A., ROMEO G. et al. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum. Mol. Genet., 1996, 5 : 1051-4.
5. BOLINO A., MUGLIA M., CONFORTI F. L., LEGUERN E., SALIH M. A., GEORGIOU D. M. et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat. Genet., 2000, 25 : 17-9.
6. BRANCOLINI C., MARZINOTTO S., EDOMI P., AGOSTONI E., FIORENTINI C., MULLER H. W. et al. Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22. Mol. Biol. Cell, 1999, 10 : 2441-59.
7. BRUZZONE R., WHITE T. W., PAUL D. L. Connections with connexins : the molecular basis of direct intercellular signaling. Eur. J. Biochem., 1996, 238 : 1-27.
8. CARPENTER D. A., IP W. Neurofilament triplet protein interactions : evidence for the preferred formation of NF-L-containing dimers and a putative function for the end domains. J. Cell Sci., 1996, 109 : 2493-8.
9. CASTRO C., GOMEZ-HERNANDEZ, J.M., SILANDER K., BARRIO L.C. Altered formal ion of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. J. Neurosci., 1999, 19 : 3752-60.
10. CHAVRIER P., JANSSEN-TIMMEN U., MATTEI M. G., ZERIAE M., BRAVO R., CHARNAY P. Structure, chromosome location, and expression of the mouse zinc finger gene Krox-20 : multiple gene products and coregulation with the proto-oncogene c-fos. Mol. Cell. Biol., 1989, 9 : 787-97.
11. CHAVRIER P, VESQUE C, GALLIOT B, VIGNERON M, DOLLE P, DUBOULE D. et al. The segment-specific gene Krox-20 encodes a transcription factor with binding sites in the promoter region of the Hox-1.4 gene. Embo. J., 1990, 9 : 1209-18.
12. CLEVELAND D. W., BRUIJN L. I., WONG PC, MARSZALEK J. R., VECHIO J. D., LEE M. K. et al. Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease. Neurology, 1996, 47 : S54-61, discussion S61-2.
13. CUI X., DE VIVO I., SLANY R, MIYAMOTO A., FIRESTEIN R., CLEARY M. L. Association of SET domain and myotubularin-related proteins modulates growth control. Nat. Genet., 1998, 18 : 331-7.
14. DE JONGHE P., TIMMERMAN V., NELIS E. Hereditary Peripheral Neuropathies. In : Neuromuscular Diseases : from basic mechanisms to clinical managment. DEYMEER F. (ed.). Vol 18. Basel : Karger, 2000 : 128-146.
15. DESCHENES S. M., WALCOTT J. L., WEXLER T. L., SCHERER S. S., FISCHBECK K. H. Altered trafficking of mutant connexin32. J. Neurosci., 1997, 17 : 9077-84.
16. DING Y., BRUNDEN K. R. The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers. J. Biol. Chem., 1994, 269 : 10764-70.
17. D'URSO D., EHRHARDT P., MULLER H. W. Peripheral myelin protein 22 and protein zero : a novel association in peripheral nervous system myelin. J. Neurosci., 1999, 19 : 3396-403.
18. DYCK P., CHANCE P., LEBO R., CARNEY J. Hereditary motor and sensory neuropathies. In : Peripheral Neuropathy. DYCK P., THOMAS P., GRIFFIN J., LOW P., PODULSO J. (eds.). Philadelphia : Saunders, 1993 : 1094-1136.
19. GEISLER N., WEBER K. Self-assembly in Vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filaments. J. Mol. Biol., 1981, 151 : 565-71.
20. GRECO A., VILLA R., FUSETTI L., ORLANDI R., PIEROTTI M. A. The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor. J. Cell Physiol., 2000, 182 : 127-33
21. HUNTER T. Anti-phosphatases take the stage. Nat. Genet., 1998, 18 : 303-5.
22. HURST J., FLAVELL D., JULIEN J. P., MEIJER D., MUSHYNSKI W., GROSVELD F. The human neurofilament gene (NEFL) is located on the short arm of chromosome 8. Cytogenet. Cell Genet., 1987, 45 : 30-2.
23. JOSEPH L. J., LE BEAU M. M., JAMIESON G. A. JR., ACHARYA S., SHOWS T. B., ROWLEY J. D. et al. Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with zinc-binding finger structure. Proc. Natl. Acad. Sci. USA, 1988, 85 : 7164-8.
24. JULIEN J. P. Neurofilament functions in health and disease. Curr. Opin. Neurobiol., 1999, 9 : 554-60.
25. KALAYDJIEVA L., GRESHAM D., GOODING R., HEATHER L., BAAS F., DE JONGE R. et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am. J. Hum. Genet., 2000, 67 : 47-58.
26. KAPLAN D. R., HEMPSTEAD B. L., MARTIN-ZANCA D., CHAO M. V., PARADA L. F. The trk proto-oncogene product : a signal transducing receptor for nerve growth factor. Science, 1991, 252 : 554-8.
27. KLEIN R., JING S. Q., NANDURI V., O'ROURKE E., BARBACID M. The trk proto-oncogene encodes a receptor for nerve growth factor. Cell, 1991, 65 : 189-97.
28. KOKAME K., KATO H., MIYATA T. Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis. GRP78/BiP and novel genes. J. Biol. Chem., 1996, 271 : 29659-65.
29. KUHN G., LIE A., WILMS S., MULLER H. W. Coexpression of PMP22 gene with MBP and P0 during de novo myelination and nerve repair. Glia, 1993, 8 : 256-64.
30. KUMAR N. M., GILULA N. B. Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein. J. Cell Biol., 1986, 103 : 767-76.
31. KURDISTANI S. K., ARIZTI P., REIMER C. L., SUGRUE M. M., AARONSON S. A., LEE S. W. Inhibition of tumor cell growth by RTP/rit42 and its responsiveness to p53 and DNA damage. Cancer Res., 1998, 58 : 4439-44.
32. LAPORTE J., BLONDEAU F., BUJ-BELLO A., TENTLER D., KRETZ C., DAHL N. et al. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum. Mol. Genet., 1998, 7 : 1703-12.
33. LAPORTE J., HU L. J., KRETZ C, MANDEL J. L., KIOSCHIS P., COY J. F. et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat. Genet., 1996, 13 : 175-82.
34. LATOUR P., GATIGNOL A., BOUTRAND L., NIVELON-CHEVALLIER A., GIRAUD M., BOUCHERAT M. et al. A R381H mutation in the EGR2 gene associated with a severe peripheral neuropathy with hypotonia. J. Peripheral Nervous System, 1999, 4 : 293-294.
35. LEE M. K., MARSZALEK J. R., CLEVELAND D. W. A mutant neurofilament subunit causes massive, selective motor neuron death : implications for the pathogenesis of human motor neuron disease. Neuron., 1994, 13 : 975-88.
36. LEMKE G., LAMAR E., PATTERSON J. Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron., 1988, 1 : 73-83.
37. LUPSKI J., MONTES DE OCA-LUNA R., SLAUGENHAUPT S., PENTAO L., GUZZETTA V., TRASK B. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell, 1991, 66 : 219-239.
38. LUPSKI J. R., WISE C. A., KUWANO A., PENTAO L., PARKE J. T., GLAZE D. G. et al. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat. Genet., 1992, 1 : 29-33.
39. MANFIOLETTI G., RUARO M. E., DEL SAL G., PHILIPSON L., SCHNEIDER C. A growth arrest-specific (gas) gene codes for a membrane protein. Mol. Cell Biol., 1990, 10 : 2924-30.
40. MARDY S., MIURA Y., ENDO F., MATSUDA I., SZTRIHA L., FROSSARD P. et al. Congenital insensitivity to pain with anhidrosis : novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am. J. Hum. Genet., 1999, 64 : 1570-9.
41. MARTINOTTI A., CARIANI C. T., MELANI C., SOZZI G., SPURR N. K., PIEROTTI M. A. et al. Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene. Hum. Mol. Genet., 1992, 1 : 331-4.
42. MARTIN-ZANCA D., BARBACID M., PARADA L. F. Expression of the trk proto-oncogene is restricted to the sensory cranial and spinal ganglia of neural crest origin in mouse development. Genes. Dev., 1990, 4 : 683-94.
43. MARTIN-ZANCA D., HUGHES S. H., BARBACID M. A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences. Nature, 1986, 319 : 743-8.
44. MATSUNAMI N., SMITH B., BALLARD L., LENSCH M. W., ROBERTSON M., ALBERTSEN H. et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat. Genet., 1992, 1 : 176-9.
45. MERSIYANOVA I. V., ISMAILOV S. M., POLYAKOV A. V., DADALI E. L., FEDOTOV V. P., NELIS E. et al. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum. Mutat., 2000, 15 : 340-7.
46. MIURA Y., MARDY S., AWAYA Y., NIHEI K., ENDO F., MATSUDA I. et al. Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families [In Process Citation]. Hum. Genet., 2000, 106 : 116-24.
47. NAEF R., SUTER U. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol. Dis., 1999, 6 : 1-14.
48. NELIS E., HAITES N., VAN BROECKHOVEN C. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum. Mutat., 1999a, 13 : 11-28.
49. NELIS E., TIMMERMAN V., DE JONGHE P., VAN BROECKHOVEN C., RAUTENSTRAUSS B. Molecular genetics and biology of inherited peripheral neuropathies : a fast-moving field. Neurogenetics, 1999b, 2 : 137-48.
50. NELIS E., VAN BROECKHOVEN C., DE JONGHE P., LOFGREN A., VANDENBERGHE A., LATOUR P. et al. 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., 1996, 4 : 25-33.
51. OH S., RI Y., BENNETT M. V., TREXLER E. B., VERSELIS V. K., BARGIELLO T. A. Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron, 1997, 19 : 927-38.
52. OHARA O., GAHARA Y., MIYAKE T., TERAOKA H., KITAMURA T. Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene. J. Cell Biol., 1993, 121 : 387-95.
53. PALAU F., LOFGREN A., DE JONGHE P., BORT S., NELIS E., SEVILLA T. et al. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A : unequal nonsister chromatid exchange during spermatogenesis. Hum. Mol. Genet., 1993, 2 : 2031-5.
54. PAREEK S., NOTTERPEK L., SNIPES G. J., NAEF R., SOSSIN W., LALIBERTE J. et al. Neurons promote the translocation of peripheral myelin protein 22 into myelin. J. Neurosci., 1997, 17 : 7754-62.
55. PAREEK S., SUTER U., SNIPES G. J., WELCHER A. A., SHOOTER E. M., MURPHY R. A. Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. J. Biol. Chem., 1993, 268 : 10372-9.
56. PAREYSON D., TARONI F., BOTTI S., MORBIN M., BARATTA S., LAURIA G. et al. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology, 2000, 54 : 1696-8.
57. PATEL P. I., ROA B. B., WELCHER A. A., SCHOENER-SCOTT R., TRASK B. J., PENTAO L. et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat. Genet., 1992, 1 : 159-65.
58. RAEYMAEKERS P., TIMMERMAN V., NELIS E., DE JONGHE P., HOOGENDIJK J., BAAS F. et al. HMSN Collaborative Research Group : Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromuscul. Disord., 1991, 1 : 93-97.
59. SCHERER S. S., DESCHENES S. M., Xu Y. T., GRINSPAN J. B., FISCHBECK K. H., PAUL D. L. Connexin32 is a myelin-related protein in the PNS and CNS. J. Neurosci., 1995, 15 : 8281-94.
60. SCHNEIDER-MAUNOURY S., TOPILKO P., SEITANDOU T., LEVI G., COHEN-TANNOUDJI M., POURNIN S. et al. Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hind-brain. Cell, 1993, 75 : 1199-214.
61. SHAPIRO L., DOYLE J. P., HENSLEY P., COLMAN D. R., HENDRICKSON W. A. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron, 1996, 17 : 435-49.
62. SHIMONO A., OKUDA T., KONDOH H. N-myc-dependent repression of ndr1, a gene identified by direct subtraction of whole mouse embryo cDNAs between wild type and N-myc mutant. Mech. Dev., 1999, 83 : 39-52.
63. SMEYNE R. J., KLEIN R., SCHNAPP A., LONG L. K., BRYANT S., LEWIN A. et al. Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene. Nature, 1994, 368 : 246-9.
64. SNIPES G. J., SUTER U., WELCHER A. A., SHOOTER E. M. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J. Cell Biol., 1992, 117 : 225-38.
65. SOHL G., GILLEN C., BOSSE F., GLEICHMANN M., MULLER H. W., WILLECKE K. A second alternative transcript of the gap junction gene connexin32 is expressed in murine Schwann cells and modulated in injured sciatic nerve. Eur. J. Cell Biol., 1996, 69 : 267-75.
66. SOMERVILLE M. J., MCLACHLAN D. R., PERCY M. E. Localizat on of the 68,000-Da human neurofilament gene (NF68) using a murine cDNA probe. Genome, 1988, 30 : 499-500.
67. SPREYER P., KUHN G., HANEMANN C. O., GILLEN C., SCHAAL H., KUHN R. et al. Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene. Embo J., 1991, 10 : 3661-8.
68. SUTER U., SNIPES G. J., SCHOENER-SCOTT R., WELCHER A. A., PAREEK S., LUPSKI J. R. et al. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J. Biol. Chem., 1994, 269 : 25795-808.
69. SWANSON A. Congenital insensitivity to pain with anhidrosis : a unique syndrome in two male siblings. Arch. Neurol., 1963, 8 : 299-306.
70. SWIATEK P. J., GRIDLEY T. Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20. Genes. Dev., 1993, 7 : 2071-84.
71. SWIRNOFF A. H., MILBRANDT J. DNA-binding specificity of NGFI-A and related zinc finger transcription factors. Mol. Cell. Biol., 1995, 15 : 2275-87.
72. TERRY-LORENZO R. T., INOUE M., CONNOR J. H., HAYSTEAD T. A., ARMBRUSTER B. N., GUPTA R. P. et al. Neurofilament-L is a protein phosphatase-1-binding protein associated with neuronal plasma membrane and post-synaptic density. J. Biol. Chem., 2000, 275 : 2439-46.
73. TIMMERMAN V., DE JONGHE P., CEUTERICK C., DE VRIENDT E., LOFGREN A., NELIS E. et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology, 1999, 52 : 1827-32.
74. TIMMERMAN V., NELIS E., VAN HUL W., NIEUWENHUIJSEN B. W., CHEN K. L., WANG S. et al. The periphera myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat. Genet., 1992, 1 : 171-5.
75. TOPILKO P., SCHNEIDER-MAUNOURY S., LEVI G., BARON-VAN EVERCOOREN A., CHENNOUFI A. B., SEITANIDOU T. et al. Krox-20 controls myelination in the peripheral nervous system. Nature, 1994, 371 : 796-9.
76. VALENTIJN L. J., BAAS F., ZORN I., HENSELS G. W., DE VISSER M., BOLHUIS P. A. Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A. Hum. Mol. Genet., 1993, 2 : 2143-6.
77. VALENTIJN L. J., BOLHUIS P. A., ZORN I., HOOGENDIJK J. E., VAN DEN BOSCH N., HENSELS G. W. et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat. Genet., 1992, 1 : 166-70.
78. VALLAT J. M., SINDOU P., PREUX P. M., TABARAUD F., MILOR A. M., COURATIER P. et al. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol, 1996, 39 : 813-7.
79. VAN BELZEN N., DINJENS W. N., DIESVELD M. P., GROEN N. A., VAN DER MADE A. C., NOZAWA Y. et al. A novel gene which is up-regulated during colon epithelial cell differentiation and down-regulated in colorectal neoplasms. Lab. Invest., 1997, 77 : 85-92.
80. WARNER L. E., MANCIAS P., BUTLER I. J., MCDONALD C. M., KEPPEN L., KOOB K. G. et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat. Genet., 1998, 18 : 382-4.
81. WARNER L. E., SVAREN J., MILBRANDT J., LUPSKI J. R. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum. Mol. Genet., 1999, 8 : 1245-51.
82. WEIER H. U., RHEIN A. P., SHADRAVAN F., COLLINS C., POLIKOFF D. Rapid physical mapping of the human trk protooncogene (NTRK1) to human chromosome 1q21-q22 by P1 clone selection, fluorescence in situ hybridization (FISH), and computer-assisted microscopy. Genomics, 1995, 26 : 390-3.
83. WULF P., BERNHARDT R. R., SUTER U. Characterization of peripheral myelin protein 22 in zebrafish (zPMP22) suggests an early role in the development of the peripheral nervous system. J. Neurosci. Res., 1999, 57 : 467-78.
84. YIN X., KIDD G. J., WRABETZ L., FELTRI M. L., MESSING A., TRAPP B. D. Schwann cell myelination requires timely and precise targeting of P(0) protein. J. Cell Biol., 2000, 148 : 1009-20.
85. ZHU Q., COUILLARD-DESPRES S., JULIEN J. P. Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp. Neurol., 1997, 148 : 299-316.
86. ZORICK T. S., SYROID D. E., ARROYO E., SCHERER S. S., LEMKE G. The transcription factors SCIP and Krox-20 mark distinct stages and cell fates in Schwann cell differentiation. Mol. Cell Neurosci., 1996, 8 : 129-45.