Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)

American Journal of Medical Genetics

Volumn 82, Issue 2, 1999, Pages 132-139

  Hodes, M E ^a   Zimmerman, Andrew W ^b   Aydanian, Antonina ^a   Naidu, Sakkubai ^b   Miller, Neil R ^c   Garcia Oller, José L ^f   Barker, Bruce ^d   Aleck, Kirk A ^e   Hurley, Thomas D ^a   Dlouhy, Stephen R ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d Pomona Valley Hospital Medical Center   (United States)

^e Children's Rehabilitative Services   (United States)

^f NONE

Author keywords

Hydropathy plots; Mutations; Pelizaeus Merzbacher disease; Proteolipid protein gene; X linked spastic paraplegia

Indexed keywords

PROTEOLIPID PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; GENE MUTATION; GENOTYPE; HUMAN; MALE; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SPASTIC PARAPLEGIA;

CODON; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; X CHROMOSOME;

EID: 0033556316     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990115)82:2<132::AID-AJMG6>3.0.CO;2-4     Document Type: Article

References (35)

1. Boison D, Büssow H, D'Urso D, Müller H-W, Stoffel W. 1995. Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths. J Neurosci 15:5502-5513.
2. Bridge PJ, Wilkins PJ 1992. The role of proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 51:209.
3. Doll R, Natowicz M, Schiffmann R, Smith FI. 1992. Molecular diagnostics for myelin proteolipid protein gene in Pelizaeus-Merzbacher disease. Am J Hum Genet 52:1053-1056.
4. Ellis D, Malcolm S. 1994. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nature Genet 6:333-334.
5. Engelman DM, Steitz TA, Goldman A. 1986. Identifying nonpolar transbilayer helices in amino acid sequences of membrane proteins. Ann Rev Biophys Biophys Chem 15:321-353.
6. Gow A, Friedrich VL Jr, Lazzarini RA. 1994. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J Neurosci Res 37:574-583.
7. Gow A, Gragerov A, Gard A, Colman DR, Lazzarini RA. 1997. Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath. J Neurosci 17:181-189.
8. Gow A, Lazzarini RA. 1996. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nature Genet 13:422-428.
9. Greer JM, Dyer CA, Pakaski M, Symonowicz C, Lees MB. 1996. Orientation of myelin proteolipid protein in the oligodendrocyte cell membrane. Neurochem Res 21:431-440.
10. Hodes ME. 1997. Pelizaeus-Merzbacher disease. 1995. In: Gilman S, Goldstein GW, Waxman SG, editors. Neurobase, 3rd ed. San Diego: Arbor Publishing.
11. Hodes ME, Dlouhy SR. 1996. The proteolipid protein gene: Double, double . . . and trouble. Am J Hum Genet 59:12-15.
12. Hodes ME, Pratt VM, Dlouhy SR. 1993. Genetics of Pelizaeus-Merzbacher disease. Develop Neurosci 15:383-394.
13. Jung M, Sommer I, Schachner M, Nave K-A. 1996. Monoclonal antibody O10 defines a conformationally sensitive cell-surface epitope of proteolipid protein (PLP). Evidence that PLP misfolding underlies dysmyelination in mutant mice. J Neurosci 16:7920-7929.
14. Kyte J. Doolittle RF. 1982. A simple method for displaying the hydropathic character of a protein. J Mol Biol 157:105-132.
15. Lees MB, Bizzozero OA. 1992. Structure and acylation of proteolipid protein. In: Myelin: Biology and chemistry. Martenson, RE, editor. Boca Raton, FI.: CRC Press, pp. 237-255.
16. Lees MB, Smith FI, Dyer CA, Greer JM, Pakaski M. 1995. Expression of myelin proteolipid protein in oligodendrocytes and transfected cells. Prog Brain Res 105:295-303.
17. Lunn KF, Fanarraga ML, Duncan ID. 1995. Myelin mutants: New models and new observations. Microscopy Res Tech 32:183-203.
18. Mäenpää J, Lindahl E, Aula P, Savontaus M-L. 1990. Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis. Clin Genet 37: 141-146.
19. Nave KA, Boespflug-Tanguy O. 1996. X-linked developmental defects of myelination: From mouse mutants to human genetic diseases. Neuroscientist 2:33-43.
20. Newman S, Saito M, Yu RK. 1995. Biochemistry of myelin proteins and enzymes. In: Neuroglia. Kettenmann H, Ransom BR, editors. New York: Oxford University Press, pp. 535-554.
21. OMIM. Online mendelian inheritance in man. 1996. Center for Medical Genetics, Johns Hopkins University, Baltimore, Maryland, http:// www3.ncbi.nlm.nih.gov/omim/
22. Orita M, Suzuki Y, Sekiya T, Hayashi K. 1989. Rapid detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
23. Osaka H, Inoue K, Kawanishi C, Sugiyama N, Onishi H, Suzuki K, Kimura S, Miyakawa N, Hanihara T, Yamada Y, Kosaka K. 1996. Proteolipid protein gene analysis in Pelizaeus-Merzbacher disease, [abstract] Am J Hum Genet 59:A276.
24. Popot JL, Pham Dinh D, Dautigny A. 1991. Major myelin proteolipid: The 4-helix topology. J Membr Biol 120:233-246.
25. Pratt VM, Naidu S, Dlouhy SR, Marks HC, Hodes ME. 1995. A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology 45:394.
26. Pratt VM, Kiefer JR, Lähdetie J, Schleutker J, Hodes ME, Dlouhy SR. 1993. Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred. Am J Hum Genet 52:1053-1056.
27. Raskind WH, Williams CA, Hudson LD, Bird TD. 1991. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 49:1355-1360.
28. Seitelberger F. 1970. Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology: leucodystrophies and polydystrophies. Amsterdam: North-Holland, pp. 150-201.
29. Strautnieks S, Rutland P, Winter RM, Baraitser M, Malcolm S. 1992. Pelizaeus-Merzbacher disease: detection of mutations Thr181→Pro and Leu223→Pro in the proteolipid protein gene, and prenatal diagnosis. Am J Hum Genet 51:871-876.
30. Takanashi J, Sugita K, Ishii M, Niimi H. 1997. Proton MR spectroscopy in Pelizaeus-Merzbacher disease. Am J Neuroradiology 18:533-535.
31. Thomson CE, Montague P, Jung M, Nave K-A, Griffiths IR. 1997. Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins. Glia 20:322-332.
32. Tosic M, Gow A, Dolivo M, Domanska-Janik K, Lazzarini RA, Matthieu J-M. 1996. Proteolipid/DM-20 proteins bearing the paralytic tremor mutation in peripheral nerves and transfected Cos-7 cells. Neurochem Res 21:423-430.
33. Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME. 1989. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA 86:9427-9430.
34. Trofatter JA, Pratt VM, Dlouhy SR, Hodes ME. 1991. AhaII polymorphism in human X-linked proteolipid protein gene (PLP). Nucleic Acids Res 19:6057.
35. Yang X, Skoff RP. 1997. Proteolipid protein regulates the survival and differentiation of oligodendrocytes. J Neurosci 17:2056-2070.