Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice

Journal of Anatomy

Volumn 195, Issue 3, 1999, Pages 331-339

  Robertson, A M ^a   Huxley, C ^b   King, R H M ^a   Thomas, P K ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Charcot Marie Tooth disease; Hereditary motor and sensory neuropathy; Myelination; Schwann cells

Indexed keywords

MYELIN PROTEIN;

ANIMAL TISSUE; ARTICLE; CELL DIFFERENTIATION; CELL STRUCTURE; CONTROLLED STUDY; CYTOPLASM; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; MOUSE; MYELIN SHEATH; MYELINATION; NERVE FIBER; NEWBORN; NONHUMAN; PERIPHERAL NEUROPATHY; POINT MUTATION; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; PROMOTER REGION; SCHWANN CELL; TRANSGENIC MOUSE;

ANIMALS; AXONS; CHARCOT-MARIE-TOOTH DISEASE; CYTOPLASM; EMBRYONIC AND FETAL DEVELOPMENT; MICE; MICE, NEUROLOGIC MUTANTS; MICE, TRANSGENIC; MICROSCOPY, ELECTRON; MYELIN PROTEINS; PERIPHERAL NERVOUS SYSTEM DISEASES; POINT MUTATION; SCHWANN CELLS; SCIATIC NERVE;

ANIMALIA; MURINAE; MUS MUSCULUS;

EID: 0032758859     PISSN: 00218782     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0021878299005452     Document Type: Article

References (35)

1. BOLIN LM, MCNEIL T, LUCIAN LA, DEVAUX B, FRANZ-BACON K, GORMAN DM et al. (1997) HNMP-1: a novel hematopoietic and neural membrane protein differentially regulated in neural development and injury. Journal of Neuroscience 17, 5493-5502.
2. BOSSE F, ZOIDL G, WILMS S, GILLEN CP, KUHN HG, MÜLLER HW (1994) Differential expression of two mRNA species indicates a dual function of peripheral myelin protein PMP22 in cell growth and myelination. Journal of Neuroscience Research 37, 529-537.
3. CHANCE PF, ALDERSON MK, LEPPIG KA, LENSCH MW, MATSUNAMI N, SMITH B et al. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143-151.
4. D'URSO D, SCHMALENBACH C, ZOIDL G, PRIOR R, MÜLLER HW (1997) Studies on the effects of altered PMP22 expression during myelination in vitro. Journal of Neuroscience Research 48, 31-42.
5. DE VRIES GH. (1993). Schwann cell proliferation. In Peripheral Neuropathy (ed. Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF), pp. 290-298. Philadelphia: W. B. Saunders.
6. GABREËLS-FESTEN AAWM, BOLHUIS PA, HOOGENDIJK JE, VALENTIJN LJ, ESHUIS EJHM, GABREËLS FJM (1995) Charcot-Marie-Tooth disease type 1A : morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathologica 90, 645-649.
7. GABRIEL JM, ERNE B, PAREYSON D, SGHIRLANZONI A, TARONI F, STECK AJ (1997) Gene dosage effects in hereditary peripheral neuropathy - expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. Neurology 49, 1635-1640.
8. HALL SM, GREGSON, NA (1978) The effect of 5-bromodeoxyuridine on remyelination in the peripheral nervous system of the mouse. Neuropathology and Applied Neurobiology 4, 117-127.
9. HANEY C, SNIPES GJ, SHOOTER EM, SUTER U, GARCIA CA, GRIFFIN JW et al. (1996) Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. Journal of Neuropathology and Experimental Neurology 55, 290-299.
10. HUXLEY C, PASSAGE E, MANSON A, PUTZU G, FIGARELLA-BRANGER D, PELLISSIER JF et al. (1996) Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Human Molecular Genetics 5, 563-569.
11. HUXLEY C, PASSAGE E, ROBERTSON AM, YOUL B, HUSTON S, MANSON A et al. (1998) Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Human Molecular Genetics 7, 449-458.
12. JOSEPH LJ, LEBEAU MM, JAMIESON GA, ACHARYA S, SHOWS TB, ROWLEY JD et al. (1988) Molecular-cloning, sequencing, and mapping of EGR2, a human early growth-response gene encoding a protein with 'zinc-binding finger' structure. Proceedings of the National Academy of Sciences of the USA 85, 7164-7168.
13. KUMAR NM, JARVIS LJ, TENBROEK E, LOUIS CF (1993) Cloning and expression of a major rat lens membrane protein, MP20. Experimental Eye Research 56, 35-43.
14. LUPSKI JR, DE OCA-LUNA LM, SLAUGENHAUPT S, PENTAO L, GUZZETTA V, TRASK BJ et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219-232.
15. MADRID R, BRADLEY WG (1975) The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy). Studies on the formation of the abnormal myelin sheath. Journal of the Neurological Sciences 25, 415-448.
16. MAGYAR JP, MARTINI R, RUELICKE T, AGUZZI A, ADLKOFER K, DEMBIC Z et al. (1996) Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. Journal of Neuroscience 16, 5351-5360.
17. MARVIN KW, FUJIMOTO W, JETTEN AM (1995) Identification and characterisation of a novel squamous cell-associated gene related to PMP22. Journal of Biological Chemistry 270, 28910-28916.
18. NAEF R, SUTER U (1998) Many facets of the peripheral myelin protein PMP22 in myelination and disease. Microscopy Research and Technique 41, 359-371.
19. PERKINS CS, AGUAYO AJ, BRAY GM (1981) Schwann cell multiplication in Trembler mice. Neuropathology and Applied Neurobiology 7, 115-126.
20. RAEYMAEKERS P, TIMMERMAN V, NELIS E, DE JONGHE P, HOOGENDIJK JE (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromuscular Disorders. 1, 93-97.
21. RAGNEKAR VM, APLIN AC, SUKHATME VP (1990) The serum and TPA responsive promoter and intron-exon structure of EGR2, a human early growth response gene encoding a zinc finger protein. Nucleic Acids Research 18, 2749-2759.
22. ROBERTSON AM, KING RHM, MUDDLE JR, THOMAS PK (1997) Abnormal Schwann cell/axon interactions in the Trembler-J mouse. Journal of Anatomy 190, 423-432.
23. SCHENONE A, NOBBIO L, MANDICH P, BELLONE E, ABBRUZZESE M, AYMAR F et al. (1997) Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology 48, 445-449.
24. SERADA M, GRIFFITHS I, PÜHLHOFER HS, STEWART H, ROSSNER MJ, ZIMMERMAN F et al. (1997) A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16, 1049-1060.
25. SNIPES GJ, SUTER U, WELCHER AA, SHOOTER EM (1992) Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). Journal of Cell Biology 117, 225-238.
26. SUH J-G, ICHIHARA N, SAIGOH K, NAKABAYASHI O, YAMANISHI T, TANAKA K et al. (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.
27. SUTER U, MOSKOW J, WELCHER A, SNIPES J, KOSARAS B, SIDMAN R et al. (1992a) A leucine to proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the Trembler-J mouse. Proceedings of the National Academy of Sciences of the USA 89, 4382-4386.
28. SUTER U, WELCHER AA, ÖZCELIK T, SNIPES GJ, KOSARAS B, FRANCKE U et al. (1992b) Trembler mouse carries a point mutation in a myelin gene. Nature 356, 241-244.
29. SUTER U, SNIPES GJ, SCHOENER-SCOTT R, WELCHER AA, PAREEK S, LUPSKI JR et al. (1994) Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. Journal of Biological Chemistry 269, 25795-25808.
30. TAYLOR V, WELCHER AA, AMGEN EST PROGRAM, SUTER U (1995) Epithelial membrane protein-1, peripheral myelin protein 22 , and lens membrane protein 20 define a novel gene family. Journal of Biological Chemistry 270, 28824-28833.
31. THOMAS PK, MARQUES JR W, DAVIS MB, SWEENEY MG, KING RHM, BRADLEY JL et al. (1997) The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120, 465-478.
32. TOPILKO P, SCHNEIDER-MAUNOURY S, LEVI G, BARON-VAN EVERCOOREN A, CHENNOUFIAB, SEITANIDOU T et al. (1994) Krox-20 controls myelination in the peripheral nervous system. Nature 371, 796-799.
33. TYSON J, MALCOLM S, THOMAS PK, HARDING AE (1996) Deletions of chromosome 17p11.2 in multifocal neuropathies. Annals of Neurology 39, 180-186.
34. VALENTIJN LJ, BAAS F, WOLTERMAN RA, HOOGENDIJK JE, BOSCH NHA, ZORN I et al. (1992) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genetics 2, 288-291.
35. VALLAT JM, SINDOU P, PREUX PM, TABARAUD F, MILOR AM, COURATIER P et al. (1996) Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Annals of Neurology 39, 813-817.