Intracellular binding of fukutin and α-dystroglycan: Relation to glycosylation of α-dystroglycan

Neuroscience Research

Volumn 56, Issue 4, 2006, Pages 391-399

  Yamamoto, Tomoko ^a   Kawaguchi, Motoko ^a   Sakayori, Noriko ^a   Muramatsu, Fumiaki ^a   Morikawa, Shunichi ^a   Kato, Yoichiro ^a   Shibata, Noriyuki ^a   Kobayashi, Makio ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Dystroglycan; Binding; Fukutin; Glycosylation; Intracellular; Muscular dystrophy

Indexed keywords

ALPHA DYSTROGLYCAN; FUKUTIN; FUKUTIN ANTIBODY; LAMININ; PROTEIN ANTIBODY; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; ASTROCYTE; BINDING ASSAY; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; CULTURE MEDIUM; CYTOPLASM; ENZYME LINKED IMMUNOSORBENT ASSAY; GLIA; GLYCOSYLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; MUSCLE TISSUE; NERVE CELL CULTURE; NEUROCHEMISTRY; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION; RAT;

ASTROCYTES; BLOTTING, WESTERN; CELLS, CULTURED; DYSTROGLYCANS; ENZYME-LINKED IMMUNOSORBENT ASSAY; GLIAL FIBRILLARY ACIDIC PROTEIN; GLYCOSYLATION; HUMANS; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; MANNOSYLTRANSFERASES; MEMBRANE PROTEINS; MUSCLE, SKELETAL; N-ACETYLGLUCOSAMINYLTRANSFERASES; RECOMBINANT FUSION PROTEINS;

EID: 33750986829     PISSN: 01680102     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neures.2006.08.009     Document Type: Article

References (39)

1. Akasaka-Manya K., Manya H., and Endo T. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. Biochem. Biophys. Res. Commun. 325 (2004) 75-79
2. Aravind L., and Koonin E.V. The fukutin protein family-predicted enzymes modifying cell-surface molecules. Curr. Biol. 9 (2000) R836-R837
3. Bedossa P., Ferlicot S., Paradis V., Dargère D., Bonvoust F., and Vidaud M. Dystroglycan expression in hepatic stellate cells: role in liver fibrosis. Lav. Invest. 82 (2002) 1053-1061
4. Beltrán-Valero de Bernabé D., Currier S., Steinbrecher A., Celli J., van Beusekom E., van der Zwaag B., Kayserili H., Merlini L., Chitayat D., Dobyns W.B., Cormand B., Lehesjoki A.-E., Cruces J., Voit T., Walsh C.A., van Bokhoven H., and Brunner H.G. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71 (2002) 1033-1043
5. Brockington M., Blake D.J., Prandini P., Brown S.C., Torelli S., Benson M.A., Ponting C.P., Estournet B., Romero N.B., Mercuri E., Voit T., Sewry C.A., Guicheney P., and Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan. Am. J. Hum. Genet. 69 (2001) 1198-1209
6. Chiyonobu T., Sasaki J., Nagai Y., Takeda S., Funakoshi H., Nakamura T., Sugimoto T., and Toda T. Effects of fukutin deficiency in the developing mouse brain. Neuromuscul. Disord. 15 (2005) 416-426
7. Dobyns W.B. Walker-Warburg and other cobblestone lissencephaly syndromes: 1995 update. In: Fukuyama Y., Osawa M., and Saito K. (Eds). Congenital Muscular Dystrophies (1997), Elsevier, Amsterdam 89-98
8. Ervasti J.M., and Campbell K.P. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J. Cell Biol. 122 (1993) 809-823
9. Hayashi Y.K., Ogawa M., Tagawa K., Noguchi S., Ishihara T., Nonaka I., and Arahata K. Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 57 (2001) 115-121
10. Herrmann R., Straub V., Blank M., Kutzick C., Franke N., Jacob E.N., Lenard H.-G., Kröger S., and Voit T. Disociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum. Mol. Genet. 9 (2000) 2335-2340
11. Ishii H., Hayashi Y.K., Nonaka I., and Arahata K. Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. Neuromuscul. Disord. 7 (1997) 191-197
12. Jiménez-Mallebrera C., Torelli S., Brown S.C., Feng L., Brockington M., Sewry C.A., Beltrán-Valero de Bernabé D., and Muntoni F. Profound skeletal muscle depletion of α-dystroglycan in Walker-Warburg syndrome. Eur. J. Pediatr. Neurol. 7 (2003) 129-137
13. Kano H., Kobayashi K., Herrmann R., Tachikawa M., Manya H., Nishino I., Nonaka I., Straub V., Talim B., Voit T., Topaloglu H., Endo T., Yoshikawa H., and Toda T. Deficiency of α-dystroglycan in muscle-eye-brain disease. Biochem. Biophys. Res. Commun. 291 (2002) 1283-1286
14. Kawaguchi M., Shibata S., Horiuchi S., and Kobayashi M. Glyoxal inactivates glutamate transporter-1 in cultured rat astrocytes. Neuropathology 25 (2005) 27-36
15. Kim D.-S., Hayashi Y.K., Matsumoto H., Ogawa M., Noguchi S., Murakami N., Sakuta R., Mochizuki M., Michele D.E., Campbell K.P., Nonaka I., and Nishino I. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG. Neurology 62 (2004) 1009-1011
16. Kobayashi K., Nakahori Y., Miyake M., Matsumura K., Kondo-Iida E., Nomura Y., Segawa M., Yoshioka M., Saito K., Osawa M., Hamano K., Sakakihara Y., Nonaka I., Nakagome Y., Kanazawa I., Nakamura Y., Tokunaga K., and Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394 (1998) 388-392
17. Longman C., Brockington M., Torelli S., Jiménez-Mallebrera C., Kennedy C., Khalil N., Feng L., Saran R.K., Voit T., Merlini L., Sewry C.A., Brown S.C., and Muntoni F. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan. Hum. Mol. Genet. 12 (2003) 2853-2861
18. Manya H., Sakai K., Kobayashi K., Taniguchi K., Kawakita M., Toda T., and Endo T. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Biochem. Biophys. Res. Commun. 306 (2003) 93-97
19. Manya H., Chiba A., Yoshida A., Wang X., Chiba Y., Jigami Y., Margolis R.U., and Endo T. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 500-505
20. Matsumoto H., Noguchi S., Sugie K., Ogawa M., Murayama K., Hayashi Y.K., and Nishino I. Subcellular localization of fukutin and fukutin-related protein in muscle cells. J. Biochem. 135 (2004) 709-712
21. Michele D.E., Barresi R., Kanagawa M., Saito F., Cohn R.D., Satz J.S., Dollar J., Nishino I., Kelley R.I., Somer H., Straub V., Mathews K.D., Moore S.A., and Campbell K.P. Post-transcriptional disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418 (2002) 417-421
22. Michele D.E., and Campbell K.P. Dystrophin-glycoprotein complex: post-transcriptional processing and dystroglycan function. J. Biol. Chem. 278 (2003) 15457-15460
23. Miller G., Ladda R.L., and Towfighi J. Cerebro-ocular dysplasia-muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus. Acta Neuropathol. 82 (1991) 234-238
24. Montanaro F., and Carbonetto S. Targeting dystroglycan in the brain. Neuron 37 (2003) 193-196
25. Muntoni F., Brockington M., Blake D.J., Torelli S., and Brown S.C. Defective glycosylation in muscular dystrophy. Lancet 360 (2002) 1419-1421
26. Ohtuska-Tsurumi E., Saito Y., Yamamoto T., Voit T., Kobayashi M., and Osawa M. Co-localization of fukutin and α-dystroglycan in the mouse central nervous system. Dev. Brain Res. (2004) 121-127
27. Osawa M., Sumida S., Suzuki N., Arai Y., Ikenaka H., Murasugi H., Shishikura K., Suzuki H., Saito K., and Fukuyama Y. Fukuyama type congenital progressive muscular dystrophy. In: Fukuyama Y., Osawa M., and Saito K. (Eds). Congenital Muscular Dystrophies (1997), Elsevier, Amsterdam 31-68
28. Pihko H., and Santavuori P. Muscle-eye-brain (MEB) disese-a review. In: Fukuyama Y., Osawa M., and Saito K. (Eds). Congenital Muscular Dystrophies (1997), Elsevier, Amsterdam 99-104
29. Sabatelli P., Columbaro M., Mura I., Capanni C., Lattanzi G., Maraldi N.M., Beltràn-Balero de Barnabè D., van Bokoven H., Squarzoni S., and Merlini L. Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome cause by POMT1 mutation. Biochim. Biophys. Acta 1638 (2003) 57-62
30. Saito Y., Murayama S., Kawai M., and Nakano I. Breached glia limitans-basal lamina complex in Fukuyama-type congenital muscular dystrophy. Acta Neuropathol. 98 (1999) 330-336
31. Saito Y., Mizuguchi M., Oka A., and Takashima S. Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in fukuyama-type congenital muscular dystrophy brain. Ann. Neurol. 47 (2000) 756-764
32. Takada K., Nakamura H., Suzumori K., Ishikawa T., and Sugiyama N. Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). Acta Neuropathol. 74 (1987) 300-306
33. Takahashi S., Sasaki T., Manya H., Chiba Y., Yoshida A., Mizuno M., Ishida H., Ito F., Inazu T., Kotani N., Takasaki S., Takeuchi M., and Endo T. A new β1,2-N-acetylglucosaminyltransferase that may play a role in the biosynthesis of mammalian O-mannosyl glycans. Glycobiology 11 (2001) 37-45
34. Vajsar J., Ackerley C., Chitayat D., and Becker L.E. Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. Pediatr. Neurol. 22 (2000) 139-143
35. Yamamoto T., Shibata N., Kanazawa M., Kobayashi M., Komori T., Kondo E., Saito K., and Osawa M. Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy. Ultrastruct. Pathol. 21 (1997) 355-360
36. Yamamoto T., Kato Y., Karita M., Takeiri H., Muramatsu F., Kobayashi M., Saito K., and Osawa M. Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. Acta Neuropathol. 104 (2002) 217-224
37. Yamamoto T., Kato Y., Kawaguchi M., Shibata N., and Kobayashi M. Expression and localization of fukutin, POMGnT1 and POMT1 in the central nervous system: consideration for functions of fukutin. Med. Electron Microsc. 37 (2004) 200-207
38. Yoshida A., Kobayashi K., Manya H., Taniguchi K., Kano H., Mizuno M., Inazu T., Mitsuhashi H., Takahashi S., Takeuchi M., Herrmann R., Straub V., Talim B., Voit T., Topaloglu H., Toda T., and Endo T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1 (2001) 717-724
39. Zaccaria M.L., Di Tommaso F., Brancaccio A., Paggi P., and Petrucci T.C. Dystroglycan disribution in adult mouse brain: a light and electron microscopy study. Neuroscience 104 (2001) 311-324