PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations

Human Mutation

Volumn 29, Issue 8, 2008, Pages 1028-1036

  Bonnet Dupeyron, Marie Noëlle ^a,b   Combes, Patricia ^a,b   Santander, Paola ^c   Cailloux, Fabrice ^a,b   Boespflug Tanguy, Odile ^a,b,c   Vaurs Barrière, Catherine ^a,b  

^a INSERM   (France)

^b UNIVERSITÉ CLERMONT AUVERGNE   (France)

^c UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

Author keywords

Fibroblasts; PLP1; PMD; SPG2; Splicing; Transcript analysis

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CENTRAL NERVOUS SYSTEM; CLINICAL ARTICLE; EXON; FETUS; FIBROBLAST CULTURE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN GENOME; INTRON; MALE; MISSENSE MUTATION; NERVE CELL CULTURE; PELIZAEUS MERZBACHER DISEASE; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; PROTEOLIPID PROTEIN 1 GENE; RNA SPLICING; SPASTIC PARAPLEGIA;

EID: 49149110848     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20758     Document Type: Article

References (24)

1. Amrani N, Dong S, He F, Ganesan R, Ghosh S, Kervestin S, Li C, Mangus DA, Spatrick P, Jacobson A. 2006. Aberrant termination triggers nonsense-mediated mRNA decay. Biochem Soc Trans 34:39-42.
2. Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O. 2000. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Eur J Hum Genet 8:837-845.
3. Campagnoni AT, Skoff RP. 2001. The pathobiology of myelin mutants reveal novel biological functions of the MBP and PLP genes. Brain Pathol 11:74-91.
4. Carango P, Funanage VL, Quiros RE, Debruyn CS, Marks HG. 1995. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol 38:610-617.
5. Combes P, Bonnet-Dupeyron MN, Gauthier-Barichard F, Schiffmann R, Bertini E, Rodriguez D, Armour JA, Boespflug-Tanguy O, Vaurs-Barrière C. 2006. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinaring leukodystrophies: identification of one partial triplication and two partial deletions of PLP1. Neurogenetics 7:31-37.
6. Faustino N, Cooper T. 2003. Pre-mRNA splicing and human disease. Genes Dev 17:419-437.
7. Hebsgaard SM, Koming PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S. 1996. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 24:3439-3452.
8. Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J. 2008. GJA12 mutations are a rare cause of Pelizaeus Merzbacher-like disease. Neurology 70:748-754.
9. Hobson GM, Huang Z, Sperle K, Stabley DL, Marks HG, Cambi F. 2002. A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol 52:477-488.
10. Inoue K. 2005. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6:1-16.
11. Kamholz J, Sessa M, Scherer S, Vogelbacker H, Mokuno K, Baron P, Wrabetz L, Shy M, Pleasure D. 1992. Structure and expression of proteolipid protein in the peripheral nervous system. J Neurosci Res 31: 231-244.
12. Mimault C, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O. 1999. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Am J Hum Genet 65:360-369.
13. Nalla VK, Rogan PK. 2005. Automated splicing mutation analysis by information theory. Hum Mutat 25:334-342.
14. Nave KA, Lai C, Bloom FE, Milner RJ. 1987. 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 84:5665-5669.
15. Puckett C, Hudson L, Ono K, Friedrich V, Benecke J, Dubois-Dalcq M, Lazzarini RA. 1987. Myelin-specific proteolipid protein is expressed in myelinating Schwann cells but is not incorporated into myelin sheaths. J Neurosci Res 18:511-518.
16. Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. 1994. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 6:257-262.
17. Schiffmann R, Boespflug-Tanguy O. 2001. An update on the leukodsytrophies. Curr Opin Neurol 14:789-794.
18. Shapiro MB, Senapathy P. 1987. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174.
19. Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J. 2003. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol 53:354-365.
20. Swanton E, Holland A, High S, Woodman P. 2005. Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum. Proc Natl Acad Sci USA 102:4342-4347.
21. Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloǧlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. 2004. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet 75: 251-260.
22. Wang E, Huang Z, Hobson GM, Dimova N, Sperle K, McCullough A, Cambi F. 2006. PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer. J Cell Biochem 97:999-1016.
23. Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Cribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM. 2005. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 77:966-987.
24. Yool DA, Klugmann M, McLaughlin M, Vouyiouklis DA, Dimou L, Barrie JA, McCulloch MC, Nave KA, Griffiths IR. 2001. Myelin proteolipid proteins promote the interaction of oligodendrocytes and axons. J Neurosci Res 63:151-164.