Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy tye 4B2/11p15

Human Molecular Genetics

Volumn 12, Issue 3, 2003, Pages 349-356

  Senderek, Jan ^a   Bergmann, Carsten ^a   Weber, Susanne ^b   Ketelsen, Uwe Peter ^c   Schorle, Hubert ^b   Rudnik Schöneborn, Sabine ^a   Büttner, Reinhard ^b   Buchheim, Eckhard ^d   Zerres, Klaus ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d KLINIKUM ESSLINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLE PROTEIN; MYELIN; MYOTUBULARIN; MYOTUBULARIN RELATED PROTEIN 2; PHOSPHATASE; PHOSPHATIDYLINOSITIDE; SET BINDING FACTOR 2; UNCLASSIFIED DRUG;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CHROMOSOME 11P; CONTROLLED STUDY; DISEASE CLASSIFICATION; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC CODE; GENETIC CONSERVATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; MYELIN SHEATH; MYELINATION; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PERIPHERAL NERVE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN FOLDING; SIGNAL TRANSDUCTION; SPINAL CORD; STRUCTURAL HOMOLOGY;

CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; HUMANS; MALE; MUTATION; MYELIN SHEATH; PEDIGREE; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 0037322882     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg030     Document Type: Article

References (27)

1. Skre, H. (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet., 6, 98-118.
2. Harding, A.E. and Thomas, P.K. (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain, 103, 259-280.
3. Dyck, P.J., Chance, P., Lebo, R. and Carney, J.A. (1993) Hereditary motor and sensory neuropathies. In Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, P.A. and Podulso, J.F. (eds), Peripheral Neuropathy. WB Saunders, Philadelphia, PA, pp. 1094-1136.
4. Vance, J.M. (2000) The many faces of Charcot-Marie-Tooth disease. Arch. Neurol., 57, 638-640.
5. Harding, A.E. and Thomas, P.K. (1980) Autosomal recessive forms of hereditary motor and sensory neuropathy. J. Neurol. Neurosurg. Psychiatry, 43, 669-678.
6. Thomas, P.K. (2000) Autosomal recessive hereditary motor and sensory neuropathy. Curr. Opin. Neurol., 13, 565-568.
7. Bolino, A., Brancolini, V., Bono, F., Bruni, A., Gambardella, A., Romeo, G., Quattrone, A. and Devoto, M. (1996) Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum. Mol. Genet., 5, 1051-1054.
8. Othmane, K.B., Johnson, E., Menold, M., Graham, F.L., Hamida, M.B., Hasegawa, O., Rogala, A.D., Ohnishi, A., Pericak-Vance, M., Hentati, F. and Vance, J.M. (1999) Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Genomics, 62, 344-349.
9. Fabrizi, G.M., Taioli, F., Cavallaro, T., Rigatelli, F., Simonati, A., Mariani, G., Perrone, P. and Rizzuto, N. (2000) Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. Acta Neuropathol., 100, 299-304.
10. Nakagawa, M., Suehara, M., Saito, A., Takashima, H., Umehara, F., Saito, M., Kanzato, N., Matsuzaki, T., Takenaga, S., Sakoda, S. et al. (1999) A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. Neurology, 52, 1271-1275.
11. Bolino, A., Muglia, M., Conforti, F.L., LeGuern, E., Salih, M.A., Georgiou, D.M., Christodoulou, K., Hausmanowa-Petrusewicz, I., Mandich, P., Schenone, A. et al. (2000) Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat. Genet., 25, 17-19.
12. Laporte, J., Blondeau, F., Buj-Bello, A. and Mandel, J.L. (2001) The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet., 17, 221-228.
13. Wishart, M.J., Taylor, G.S., Slama, J.T. and Dixon, J.E. (2001) PTEN and myotubularin phosphoinositide phosphatases: bringing bioinformatics to the lab bench. Curr. Opin. Cell Biol., 13, 172-181.
14. Laporte, J., Hu, L.J., Kretz, C., Mandel, J.L., Kioschis, P., Coy, J.F., Klauck, S.M., Poustka, A. and Dahl, N. (1996) A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat. Genet., 13, 175-182.
15. Taylor, G.S., Maehama, T. and Dixon J.E. (2000) Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc. Natl Acad. Sci. USA, 97, 8910-8915.
16. Itoh, T. and Takenawa, T. (2002) Phosphoinositide-binding domains. Functional units for temporal and spatial regulation of intracellular signalling. Cell. Signal., 14, 733-743.
17. Cui, X., De Vivo, I., Slany, R., Miyamoto, A., Firestein, R. and Cleary, M.L. (1998) Association of SET domain and myotubularin-related proteins modulates growth control. Nat. Genet., 18, 331-337.
18. De Vivo, I., Cui, X., Domen, J. and Cleary, M.L. (1998) Growth stimulation of primary B cell precursors by the anti-phosphatase SBF1. Proc. Natl Acad. Sci. USA, 95, 9471-9476.
19. Firestein, R. and Cleary, M.L. (2001) Pseudo-phosphatase SBF1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties. J. Cell Sci., 114, 2921-2927.
20. Bolino, A., Lonie, L.J., Zimmer, M., Boerkoel, C.F., Takashima, H., Monaco, A.P. and Lupski, J.R. (2001) Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics, 3, 107-109.
21. Berger, P., Bonneick, S., Willi, S., Wymann M. and Suter, U. (2002) Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum. Mol. Genet., 11, 1569-1579.
22. Hunter, T. (1998) Anti-phosphatases take the stage. Nat. Genet., 18, 303-305.
23. Levivier, E., Goud, B., Souchet, M., Calmels, T.P., Mornon, J.P. and Callebaut, I. (2001) uDENN, DENN, and dDENN: indissociable domains in Rab and MAP kinases signaling pathways. Biochem. Biophys. Res. Commun., 287, 688-695.
24. Majidi, M., Gutkind, J.S. and Lichy, J.H. (2000) Deletion of the COOH terminus converts the ST5 p70 protein from an inhibitor of RAS signaling to an activator with transforming activity in NIH-3T3 cells. J. Biol. Chem., 275, 6560-6565.
25. Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1984) Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA, 81, 3443-3446.
26. Sobel, E. and Lange, K. (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am. J. Hum. Genet., 58, 1323-1337.
27. Kozak, M. (1989) Context effects and inefficient initiation at non-AUG codons in eucaryotic cell-free translation systems. Mol. Cell. Biol., 9, 5073-5080.