The "CMT rat": Peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22

Annals of the New York Academy of Sciences

Volumn 883, Issue , 1999, Pages 254-261

  Niemann, Stephan ^a   Sereda, Michael W ^a   Rossner, Moritz ^a   Stewart, Helen ^a   Suter, Ueli ^b   Meinck, Hans Michael ^a   Griffiths, Ian R ^c   Nave, Klaus Armin ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b ETH ZURICH   (Switzerland)

^c UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLIUM CEPA;

MYELIN PROTEIN; PMP22 PROTEIN, HUMAN; PMP22 PROTEIN, RAT;

ANIMAL; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MYELIN SHEATH; PATHOLOGY; PHYSIOLOGY; RAT; REVIEW; TRANSGENIC ANIMAL;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; CHARCOT-MARIE-TOOTH DISEASE; HUMANS; MYELIN PROTEINS; MYELIN SHEATH; RATS;

EID: 0033554290     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08587.x     Document Type: Article

References (33)

1. DYCK, P.J., P.K. THOMAS, J.W. GRIFFIN, P.A. Low & J.F. PODUSLO. 1993. Peripheral Neuropathy, Vol 2. W.B. Saunders Company. Philadelphia.
2. 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.
3. SKRE, H. 1974. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 6: 98-118.
4. WISE, C.A., C.A. GARCIA, S.N. DAVIS, Z. HEJU, L. PENTAO, P.I. PATEL & J.R. LUPSKI. 1993. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am. J. Hum. Genet. 53: 853-863
5. IONASESCU, V. V. 1995 Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 18: 257-275.
6. NICHOLSON, G.A. 1991. Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies. Neurology 41: 547-552.
7. LUPSKI, J. R., R. M. DE OCA LUNA, S. SLAUGENHAUPT, L. PENTAO, V. GUZZETTA, B. J. TRASK, O. SAUCEDO-CARDENAS, D. F. BARKER, J. M. KILLIAN, C. A. GARCIA, A. CHAKRAVARTI & P.I. PATEL. 1991. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232.
8. RAEYMAEKERS, P., V. TIMMERMAN, E. NELIS, J. P. DE, J. E. HOOGENDIJK, F. BAAS, D. F. BARKER, J. J. MARTIN, V. M. DE, P. A. BOLHUIS & C. VAN BROECKHOVEN. 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.
9. 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, J.R. LUPSKI & U. SUTER. 1992. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1: 159-165.
10. TIMMERMAN, V., E. NELIS, W. VAN-HUL, B.W. NIEUWENHUIJSEN, K.L. CHEN, S. WANG, K. BEN-OTHMAN, B. CULLEN, R.J. LEACH, C.O. HANEMANN, P. DEJONGHE, P. RAEYMAEKERS, G.J.B. VAN OMMEN, J.J. MARTIN, H.W. MUELLER, J.M. VANCE, K.H. FISCHBECK & C. VAN BROECKHOVEN. 1992. The peripheral myclin protein gene PMP-22 is contained within the Charcol-Marie-Tooth disease type 1A duplication Nat. Genet. 1: 171-175.
11. MATSUNAMI, N., B. SMITH, L. BALLARD, M.W. LENSCH, M. ROBERTSON, H. ALBERTSEN, C.O. HANEMANN, H.W. MÜLLER, T.D. BIRD, R. WHITE & P.F. CHANCE. 1992. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat. Genet. 1: 176-179.
12. VALENTIJN, L.J., F. BAAS, R.A. WOLTERMAN, J.E. HOOGENDIJK, N.H. VAN-OEN-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 1A. Nat. Genet. 2: 288-291.
13. ROA, B. B., P. J. DYCK, H. G. MARKS, P. F. CHANCE & J. R. LUPSKI. 1993. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet. 5: 269-272.
14. ROA, B. B., C. A. GARCIA, L. PENTAO, J. M. KILLIAN, B. J. TRASK, U. SUTER, G. J. SNIPES, E. M. SHOOTER, P. I. PATEL, & J. R. LUPSKI. 1993. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet. 5: 189-194.
15. 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 & J. R. LUPSKI. 1993. Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N. Engl. J. Med. 329: 96-101.
16. 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.
17. 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.
18. YOSHIKAWA, H., T. NISHIMURA, Y. NAKATSUJI, H. FUJIMURA, M. HIMORO, K. HAYASAKA, S. SAKODA & T. YANAGIHARA. 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.
19. HANEMANN, C.O., G. STOLL, D. D'URSO, W. FRICKE, J.J. MARTIN, C. VAN-BROECKHOVEN, G.L. MANCARDI, I. BARTKE & H.W. MÜLLER. 1994. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J. Neurosci. Res. 37: 654-659.
20. 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.
21. 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.
22. ZOIDL, G., S. BLASS-KAMPMANN, D. D'URSO, C. SCHMALENBACH & H.W. MÜLLER, 1995. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. EMBO J. 14: 1122-1128.
23. ADLKOFER, K., R. MARTINI, A. AGUZZI, J. ZIELASEK, K. V. TOYKA, & U. SUTER. 1995. Hypermyelination and demyelinating peripheral neuropathy in PMP-22-deficient mice. Nature Genet. 11: 274-280.
24. READHEAD, C., A. SCHNEIDER, I. GRIFFITHS & K.-A. NAVE. 1994. Premature arrest of myelin formation in transgenic mice with increased dosage of the proteolipid protein gene. Neuron 12: 583-595.
25. SEREDA, M., I. GRIFFITHS, A. PÜHLHOFER, H. STEWART, M.J. ROSSNER, F. ZIMMERMANN, J.P. MAGYAR, A. SCHNEIDER, E. HUND, H.-M. MEINCK, U. SUTER & K.-A. NAVE. 1996. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16: 1049-1060.
26. MAGYAR, J.P., R. MARTINI, T. RUELICKE, A. AGUZZI, K. ADLKOFER, Z. DEMBIC, J. ZIELASEK, K.V. TOYKA & U. SUTER. 1996. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J. Neurosci. 16: 5351-5360.
27. HUXLEY, C., E. PASSAGE, A. MANSON, G. PUTZU, D. FIGARELLA-BRANGER, J.F. PELLISSIER & M. FONTES. 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.
28. NIEMANN, S., M. SEREDA, U. SUTER, I. GRIFFITHS & K.-A. NAVE. 1999. Uncoupling of myelin assembly and Schwann cell differentiation by transgenic overexpression of PMP22. Submitted.
29. HANEMANN, C.O., A.A. GABREELS-FASTEN, H.W. MÜLLER & G. STOLL. 1996. Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages. Brain 119: 1461-1469.
30. NAEF, R., K. ADLKOFER, B. LESCHER & U. SUTER. 1997. Abberant protein trafficking in trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol. Cell. Neurosci. 9: 13-25.
31. D'URSO, D., R. PRIOR, R. GREINER-PETTER, A. A. GABREELS-FESTEN & H. W. MÜLLER. 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.
32. HUXLEY, C., E. PASSAGE, A.M. ROBERTSON, B. YOUL, S. HUSTON, A. MANSON, D. SABERAN-DJONIEDI, D. FIGARELLA-BRANGER, J.F. PELLISSIER, P.K. THOMAS & M. FONTES. 1998. Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Hum. Mol. Genet. 7: 449-458.
33. ADLKOFER, K., R. FREI, D.H. NEUBERG, J. ZIELASEK, K.V. TOYKA & U. SUTER. 1997. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J. Neurosci. 17: 4662-4671.