Phenotypic diversity resulting from a point mutation in a plp gene in paralytic tremor rabbit

Folia Neuropathologica

Volumn 44, Issue 4, 2006, Pages 244-250

  Sypecka, Joanna ^a   Domańska Janik, Krystyna ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

Gene expression; Hypomyelination; Phenotype; Plp gene; Point mutation

Indexed keywords

MESSENGER RNA; PROTEOLIPID PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DOWN REGULATION; EXON; GENETIC DISORDER; GENETIC VARIABILITY; MUTANT; MYELINATION; NEUROLOGIC DISEASE; NONHUMAN; PARALYTIC TREMOR; PHENOTYPE; POINT MUTATION; RABBIT; SYMPTOM; TREMOR;

EID: 33846150003     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

References (56)

1. Ader M, Schachner M, Bartsch U. Integration and differentiation of neural stem cells after transplantation into the dysmyelinated central nervous system of adult mice. Eur J Neurosci 2004; 20: 1205-1210.
2. Amiguet P, Gardinier MV, Zanetta JP, Matthieu JM. Purification and partial structural and functional characterization of mouse myelin/ oligodendrocyte glycoprotein. J Neurochem 1992; 58: 1676-1682.
3. Amur-Umarjee S, Phan T, Campagnoni AT. Myelin basic protein mRNA translocation in oligodendrocytes is inhibited by astrocytes in vitro. J Neurosci Res 1993; 36: 99-110.
4. Armstrong RC, Kim JG, Hudson LD. Expression of myelin transcription factor I (MyTI), a "zinc-finger" DNA-binding protein, in developing oligodendrocytes. Glia 1995; 14: 303-321.
5. Bauer J, Bradl M, Klein M, Leisser M, Deckwerth TL, Wekerle H, Lassmann H. Endoplasmic reticulum stress in PLP-overexpressing transgenic rats: gray matter oligodendrocytes are more vulnerable than white matter oligodendrocytes. J Neuropathol Exp Neurol 2002; 61: 12-22.
6. Berndt JA, Kim JG, Hudson LD. Identification of cis-regulatory elements in the myelin proteolipid protein (PLP) gene. J Biol Chem 1992; 267: 14730-14737.
7. Colman DR, Kreibich G, Frey AB, Sabatini DD. Synthesis and incorporation of myelin polypeptides into CNS myelin. J Cell Biol 1982; 95: 598-608.
8. Domanska-Janik K, Gajkowska B, de Nechaud B, Bourre JM. Myelin composition and activities of CNPase and Na+, K+-ATPase in hypomyelinated "Pt" mutant rabbit. J Neurochem 1988; 50: 122-130.
9. Gow A, Friedrich VL Jr, Lazzarini RA. Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein. J Neurosci Res 1994; 37: 563-573.
10. Gow A, Friedrich VL Jr, Lazzarini RA. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J Neurosci Res 1994; 37: 574-583.
11. Gow A, Southwood CM, Lazzarini RA. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in animal model of Pelizaeus-Merzbacher disease. J Cell Biol 1998; 140: 925-934.
12. Griffiths IR, Montague P, Dickinson P. The proteolipid protein gene. Neuropathol Appl Neurobiol 1995; 21: 85-96.
13. Griffiths IR, Schneider A, Anderson J, Nave KA. Transgenic and natural mouse models of proteolipid protein (PLP)-related dysmyelination and demyelination. Brain Pathol 1995; 5: 275-281.
14. Hodes ME, Pratt VM, Dlouhy SR. Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 1993; 15: 383-394.
15. Hudson LD. Molecular genetics of X-linked mutants. Ann NYAcad Sci 1990; 605: 155-165.
16. Koeppen AH, Robitaille Y. Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol 2002; 61: 747-759.
17. Konat G., Wiggins R.C. Genetic dysmyelination models in Neuromethods. The Humana Press Inc 1992; 21: 175-203.
18. Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970; 227: 680-685.
19. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951; 193: 265-275.
20. Macklin WB, Gardinier MV, Obeso ZO. Structure and expression of the mouse myelin proteolipid protein gene. Ann NY Acad Sci 1990; 605: 183-193.
21. Mallon BS, Macklin WB. Overexpression of the 3′-untranslated region of the myelin proteolipid protein mRNA leads to reduced expression of endogenous proteolipid mRNA. Neurochem Res 2002; 27: 1349-1360.
22. Mastronardi FG, Ackerley CA, Arsenault L, Roots BI, Moscarello MA. Demyelination in a transgenic mouse: a model for multiple sclerosis. J Neurosci Res 1993; 36: 315-324.
23. Mitome M, Low HP, van den Pol A, Nunnari JJ, Wolf MK, Billings-Gagliardi S, Schwartz WJ. Towards the reconstruction of central nervous system white matter using neural precursors cells. Brain 2001; 124: 2147-2161.
24. Nadon NL, Duncan ID. Gene expression and oligodendrocyte development in the myelin deficient rat. J Neurosci Res 1995; 41: 96-104.
25. Nave KA. Neurological mouse mutants and the genes of myelin. J Neurosci Res 1994; 38: 607-612.
26. Nave KA, Lai C, Bloom FE, Milner RJ. Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci USA 1987; 84: 5665-5669.
27. Nistor GI, Totoiu MO, Haque N, Carpenter MK, Keirstead HS. Human embryonic stem cells differentiate into oligodendrocytes in high purity and myelinate after spinal cord transplantation. Glia 2005; 49: 385-396.
28. Norton WT, Poduslo SE. Myelination in rat brain: method of myelin isolation. J Neurochem 1973; 21: 749-757.
29. Nussbaum JL, Roussel G. Immunocytochemical demonstration of the transport of myelin proteolipids through the Golgi apparatus. Cell Tissue Res 1983; 234: 547-559.
30. Osetowska E. Nouvelle maladie hereditaire du lapin de laboratoire. Acta Neuropathol 1967; 8: 331-344.
31. Osetowska E, Luszawski F. Prolegomena to experimental studies on hereditary disease of the nervous system on a "pt" rabbit model. Neuropatol Pol 1975; 13: 61-70.
32. Osetowska E, Luszawski F, Taraszewska A. Experimental studies on a hereditary central nervous system disease in PT rabbits. V. Clinical syndrome in generations 1-10. Neurol Neurochir Pol 1975; 5: 569-578.
33. Pluchino S, Quattrini A, Brambilla E, Gritti A, Salani G, Dina G, Galli R, Del Carro U, Amadio S, Bergami A, Furlan R, Comi G, Vescovi AL, Martino G. Injection of adult neurospheres induces recovery in a chronic model of multiple sclerosis. Nature 2003; 422: 688-694.
34. Popot JL, Pham Dinh D, Dautigny A. Major Myelin proteolipid: the 4-alpha-helix topology. J Membr Biol 1991; 120: 233-246.
35. Quarles RH, Johnson D, Brady RO, Sternberger NH. Preparation and characterization of antisera to the myelin-associated glycoprotein. Neurochem Res 1981; 6: 115-127.
36. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning, 2nd ed. Cold Spring Harbor Laboratory Press, New York 1989.
37. Schneider A, Montague P, Griffiths I, Fanarraga M, Kennedy P, Brophy P, Nave KA. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Nature 1992; 358: 758-761.
38. Seitelberger F. Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 1995; 5: 267-273.
39. Sinoway MP, Kitagawa K, Timsit S, Hashim GA, Colman DR. Proteolipid protein interactions in transfectants: implications for myelin assembly. J Neurosci Res 1994; 37: 551-562.
40. Skoff RP. Programmed cell death in the dysmyelinating mutants. Brain Pathol 1995; 5: 283-288.
41. Skoff RP, Saluja I, Bessert D, Yang X. Analyses of proteolipid protein mutants show levels of proteolipid protein regulate oligodendrocyte number and cell death in vitro and in vivo. Neurochem Res 2004; 29: 2095-2103.
42. Swanton E, High S, Woodman P. Role of calnexin in the glycan-independent quality control of proteolipid protein. EMBO J 2003; 22: 2948-2958.
43. Sypecka J, Domanska-Janik K. Expression of myelin-specific proteins during development of normal and hypomyelinated Paralytic tremor mutant rabbits. I Studies on the brain homogenates. Mol Chem Neuropathol 1995; 26: 53-66.
44. Sypecka J, Domanska-Janik K. Expression of myelin specific proteins during development of normal and hypomyelinated Paralytic tremor mutant rabbits. II Studies on the purified myelin. Mol Chem Neuropathol 1995; 26: 67-78.
45. Sypecka J, Gajkowska B, Domanska-Janik K. Oligodendrocyte development in PLP "pt" mutant rabbits: glycolipid antigens and PLP gene expression. Metab Brain Dis 1995; 10: 321-333.
46. Taraszewska A. Ultrastructural changes in the spinal cord of pt rabbit during the symptomatic period of the disease. Neuropat Pol 1979; 17: 19-37.
47. Taraszewska A. Morphologic characteristics of sudanophilic deposits in pathomyelinogeneris in pt rabbits. Neuropatol Pol 1986; 24: 183-194.
48. Taraszewska A. Ultrastructure of axons in disturbed CNS myelination in pt rabbit. Neuropatol Pol 1988; 26: 385-402.
49. Timsit S, Sinoway MP, Levy L, Allinquant B, Stempak J, Staugaitis SM, Colman DR. The DM20 protein of myelin: intracellular and surface expression patterns in transfectants. J Neurochem 1992; 58: 1936-1942.
50. Tosic M, Dolivo M, Domanska-Janik K, Matthieu JM. Paralytic tremor (pt): a new allele of proteolipid protein gene in rabbits. J Neurochem 1994; 63: 2210-2216.
51. Towbin H, Staehelin T, Gordon J. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci USA 1979; 76: 4350-4354.
52. Trapp BD, Moench T, Pulley M, Barbosa E, Tennekoon G, Griffin J. Spatial segregation of mRNA encoding myelin-specific proteins. Proc Natl Acad Sci USA 1987; 84: 7773-7777.
53. Windrem MS, Nunes MC, Rashbaum WK, Schwartz TH, Goodman RA, McKhann G 2nd, Roy NS, Goldman SA. Fetal and adult human oligodendrocyte progenitor cell isolates myelinate the congenitally dysmyelinated brain. Nat Med 2004; 10: 93-97.
54. Yanagisawa K, Moller JR, Duncan ID, Quarles RH. Disproportional expression of proteolipid protein and DM-20 in the X-linked, dysmyelinating shaking pup mutant. J Neurochem 1987; 49: 1912-1917.
55. Yool DA, Edgar JM, Montague P, Malcolm S. The proteolipid protein gene and myelin disorders in man and animal models. Hum Mol Genet 2000; 9: 987-992.
56. Zelman IB, Taraszewska A. Meylin pathology in the pt rabbit. Neuropat Pol 1984; 22: 205-218.