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

Volumn 79, Issue 3, 1997, Pages 735-744

  Suh, J G ^a,b   Ichihara, N ^a   Saigoh, K ^b   Nakabayashi, O ^a   Yamanishi, T ^b   Tanaka, K ^b   Wada, K ^b   Kikuchi, T ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

Apoptosis; CMT1A; Deletion; PMP22; Schwann cell; Trembler

Indexed keywords

MYELIN; MYELIN PROTEIN;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; APOPTOSIS; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; CELL DEATH; DELETION MUTANT; DNA SEQUENCE; EXON; GAIT DISORDER; GENE DELETION; HOMOZYGOTE; MOLECULAR CLONING; MOUSE; MYELIN DEFICIENCY; MYELINATION; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCHWANN CELL; SCIATIC NERVE; SEQUENCE ANALYSIS;

ANIMALS; BASE SEQUENCE; CELL DEATH; GENE DELETION; MICE; MICE, MUTANT STRAINS; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MYELIN PROTEINS; SCHWANN CELLS; SCIATIC NERVE;

EID: 0030825570     PISSN: 03064522     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0306-4522(96)00692-6     Document Type: Article

References (40)

1. Adlkofer K., Martini R., Aguzzi A., Zielasek J., Toyka K. V., Suter U. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nature Genet. 11:1995;274-280.
2. Chance P. F., Alderson M. K., Leppig K. A., Lensch M. W., Matsunarni M., Smith B., Swanson P. D., Odelberg S. J., Disteche C. M., Bird T. M. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 72:1993;143-151.
3. Fabbretti E., Edomi P., Brancolini C., Schneider C. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP-22: its relation to the demyelination peripheral neuropathy CMT1A. Gene Develop. 9:1995;1846-1856.
4. Gabreels-Festen A., Gabreels F. Hereditary demyelinating motor and sensory neuropathy. Brain Path. 3:1993;135-146.
5. Gow A., Friedrich V. L. Jr., Lazzarini R. A. Many naturally occuring mutations of myelin proteolipid protein impair its intracellular transport. J. Neurosci. Res. 37:1994;574-583.
6. Harding A. E. From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain. 118:1995;809-818.
7. Henry E. W., Cowen J. S., Sidman R. L. Comparison of trembler and tremblers phenotypes: varying severity of peripheral hypomyelination. J. Neuropath. exp. Neurol. 42:1983;688-706.
8. Henry E. W., Sidman R. L. Long lives for homozygous trembler mutant mice despite virtual absence of peripheral nerve myelin. Science. 241:1988;344-346.
9. Hudson L. D., Berndt J. A., Puckett C., Kozak C. A., Lazzarini R. Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse. Proc. natn. Acad. Sci. U.S.A. 84:1987;1454-1458.
10. Ichihara N., Wu J., Chui D., Yamazaki K., Wakabayashi T., Kikuchi T. Axonal degeneration promotes abnormal accumulation of amyloid β protein in ascending gracile tract of gracile axonal dystrophy (GAD) mouse. Brain Res. 695:1995;173-178.
11. Jackson K. F., Duncan I. D. Cell kinetics and cell death in the optic nerve of the myelin deficient rat. J. Neurocytol. 17:1988;657-670.
12. Kagawa T., Ikenaka K., Inoue Y., Kuriyama S., Tsujii T., Nakao J., Nakajima K., Aruga J., Okano H., Mikoshiba K. Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron. 13:1994;427-442.
13. Low P. A. Hereditary hypertrophic neuropathy in the trembler mouse. J. neurol. Sci. 30:1976;343-368.
14. Morello D., Dautigny A., Pham-Dinh D., Jollès P. Myelin proteolipid protein (PLP and DM-20) transcripts are deleted in jimpy mutant mice. Eur. molec. Biol. Org. J. 5:1986;3489-3493.
15. Nave K.-A., Lai C., Bloom F. E., Milner R. J. Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing. Proc. natn. Acad. Sci. U.S.A. 83:1986;9264-9286.
16. Nelis E., Timmerman V., De Jonghe P., Von Broeckhoven C. Identification of a 5′ splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type l. Human molec. Genet. 3:1994;515-516.
17. Nicholson G. A., Valentin L. J., Cherryson A. K., Kennerson M. L., Bragg T. L., DeKroon R. M., Rose D. A., Pollard J. D., McLeod J. G., Bolhuis P. A., Bass A. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet. 6:1994;263-266.
18. Patel P. I. Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene. Curr. Opin. Genet. Develop. 3:1993;438-444.
19. Roa B. B., Dyck P. J., Marks H. G., Chance P. F., Lupski J. R. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet. 5:1993;269-273.
20. Roa B. B., Garcia C. A., Pentao L., Killian J. M., Trask B. J., Suter U., Snipes G. J., Ortiz-Lopez R., Shooter E. M., Patel P. I., Lupski J. R. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet. 5:1993;189-194.
21. Roa B. B., Garcia C. A., Suter U., Kulpa D. A., Wise C. A., Muller J., Welcher A. A., Snipes G. J., Shooter E. M., Patel P. I., Lupski J. R. Charcot-Marie-Tooth disease type 1A; association with a spontaneous point mutation in the PMP-22 gene. New Engl. J. Med. 329:1993;96-101.
22. Roussel G., Neskovic N. M., Trifilieff E., Artault J.-C., Nussbaum J.-L. Arrest of proteolipid transport through the Golgi apparatus in Jimpy brain. J. Neurocytol. 16:1987;195-204.
23. Sambrook J., Fritsch E. F. and Maniatis T. (1989) Molecular Cloning: A Laboratory Manual. 2nd edn, Cold Spring Harbor Lab., Cold Spring Harbor, New York.
24. Schneider A., Griffiths I. R., Readhead C., Nave K.-A. Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein. Proc. natn. Acad. Sci. U.S.A. 92:1995;4447-4451.
25. Sereda M., Griffiths I., Rühlhofer A., Stewart H., Rossner M. J., Zimmermann F., Magyar J. P., Schneider A., Hund E., Meinck R. -M., Suter U., Nave K.-A. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron. 16:1996;1049-1060.
26. Skoff R. P. Programmed cell death in the dysmyelinating mutants. Brain Path. 5:1995;283-288.
27. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 6:1974;98-118.
28. Sidman R. L., Dickle M. M., Appel S. H. Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system. Science. 144:1964;309-311.
29. Snipes G. J., Suter U., Shooter E. M. Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope. J. Neurochem. 61:1993;1961-1964.
30. Snipes G. J., Suter U. Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models. Brain Path. 5:1995;233-247.
31. Snipes G. J., Suter U. Molecular anatomy and genetics of myelin protein in the peripheral nervous system. J. Anat. 186:1995;483-494.
32. Suh J.-G., Yamanishi T., Matsui K., Tanaka K., Wada K. Mapping of the gracile axonal dystrophy (gad) gene to a region between D5Mit197 and D5Mit113 on proximal mouse chromosome 5. Genomics. 27:1995;549-551.
33. Suter U., Moscow J. J., Welcher A. A., Snipes G. J., Kosaras B., Sidman R. L., Buchberg A. M., Shooter E. M. A leucine-to-proline mutation in the putative first transmembrane domain of the 22 kDa peripheral myelin protein in the tremblers mouse. Proc. natn. Acad. Sci. U.S.A. 89:1992;4382-4386.
34. Suter U., Welcher A. A., Ozcelik T., Snipes G. J., Kosaras B., Francke U., Billings G. S., Sidman R. L., Shooter E. M. Trembler mouse carries a point mutation in a myelin gene. Nature. 356:1992;241-244.
35. Suter U., Welcher A. A., Snipes G. J. Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system. Trends neurol. Sci. 16:1993;50-56.
36. Suter U., Snipes G. J., Schoener-Scott R., Welcher A. A., Pareek S., Lupski J. R., Murphy R. A., Schooter E. M., Patel P. I. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP-22) gene transcripts by two promoters. J. biol. Chem. 269:1994;25795-25808.
37. Suter U., Snipes G. J. Peripheral myelin protein 22, facts and hypotheses. J. Neurosci. Res. 40:1995;145-151.
38. Takayama Y., Takada F., Takahashi A., Kawakami M. A 100 kDa protein in the C4-activating component of Ra-reactive factor is a new serine protease having module organization similar to C1r and C1s. J. Immunol. 152:1994;2308-2316.
39. Welcher A. A., Suter U., De Leon M., Snipes G. J., Shooter E. M. A myelin protein is encoded by the homologue of a growth-arrest specific gene. Proc. natn. Acad. Sci. U.S.A. 88:1991;7195-7199.
40. Zoidl G., Blass-Kampmann S., D'Urso D., Schmalenbach C., Muller H. W. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. Eur. molec. Biol. Org. J. 14:1995;1122-1128.