Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients

Muscle and Nerve

Volumn 44, Issue 3, 2011, Pages 388-392

  Godfrey, Caroline ^a   Clement, Emma ^a   Abbs, Stephen ^b   Muntoni, Francesco ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

Dystroglycan glycosylation; Dystroglycanopathy; Muscular dystrophy; Ubiquitin ligase; WWP1

Indexed keywords

PROTEIN; UNCLASSIFIED DRUG; WW DOMAIN CONTAINING PROTEIN 1;

ANIMAL CELL; ARTICLE; CHICKEN; COHORT ANALYSIS; CONTROLLED STUDY; DYSTROGLYCANOPATHY; GENETIC CODE; MISSENSE MUTATION; MUSCULAR DYSTROPHY; NONHUMAN; PRIORITY JOURNAL;

COHORT STUDIES; DYSTROGLYCANS; GENETIC TESTING; GLYCOSYLATION; HOMOZYGOTE; HUMANS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; UBIQUITIN-PROTEIN LIGASES;

EID: 80052040544     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22068     Document Type: Article

References (40)

1. Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990;345:315-319.
2. Yoshida M, Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 1990;108:748-752.
3. Ervasti JM, Campbell KP. Membrane organization of the dystrophin- glycoprotein complex. Cell 1991;66:1121-1131.
4. Holt KH, Crosbie RH, Venzke DP, Campbell KP. Biosynthesis of dys-troglycan: processing of a precursor propeptide. FEBS Lett 2000;468: 79-83.
5. Brown SC, Fassati A, Popplewell L, Page AM, Henry MD, Campbell KP, et al. Dystrophic phenotype induced in vitro by antibody blockade of muscle alpha-dystroglycan-laminin interaction. J Cell Sci 1999; 112:209-216.
6. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002;418:417-422.
7. Muntoni F, Torelli S, Brockington M. Muscular dystrophies due to glycosylation defects. Neurotherapeutics 2008;5:627-632.
8. van Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet 2005;67:281-289.
9. Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Ver-rijp K, et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopa-thies. Am J Hum Genet 2009;85:76-86.
10. Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyo-nobu T, et al. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun 2006;350:935-941.
11. Saito Y, Yamamoto T, Mizuguchi M, Kobayashi M, Saito K, Ohno K, et al. Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res 2006; 1075:223-228.
12. Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, et al. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol 2004;164: 727-737.
13. Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, et al. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet 2005;14:657-665.
14. Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T. Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1. Biochem Biophys Res Commun 2004;320:39-44.
15. Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, et al. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Biochem Biophys Res Com-mun 2003;306:93-97.
16. Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001;1: 717-724.
17. Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, et al. Molecular heterogeneity in fetal forms of type II lis-sencephaly. Hum Mutat 2007;28:1020-1027.
18. Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat 2008;29:E231-241.
19. Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study. Neurology 2009;72:1802-1809.
20. Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, et al. Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007;130: 2725-2735.
21. Saito F, Blank M, Schroder J, Manya H, Shimizu T, Campbell KP, et al. Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy. FEBS Lett 2005;579:2359-2363.
22. Matsumoto HMH, Yoshizawa K, Sasazaki S, Fujiwara A, Kikuchi T. Pinpointing the candidate region for muscular dystrophy in chickens with an abnormal muscle gene. Anim Sci J 2007;78:476-483.
23. Matsumoto H, Maruse H, Inaba Y, Yoshizawa K, Sasazaki S, Fujiwara A, et al. The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy. FEBS Lett 2008;582:2212-2218.
24. Hirsch C, Gauss R, Horn SC, Neuber O, Sommer T. The ubiquityla-tion machinery of the endoplasmic reticulum. Nature 2009;458: 453-460.
25. Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, et al. Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins. Mol Cell Neurosci 1998;11: 149-160.
26. Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary lami-nin alpha2 deficiency and abnormal glycosylation of alpha-dystrogly-can. Am J Hum Genet 2001;69:1198-1209.
27. Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, et al. A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dys-troglycan does not consistently correlate with clinical severity. Brain Pathol 2009;19:596-611.
28. Henry MD, Campbell KP. A role for dystroglycan in basement membrane assembly. Cell 1998;95:859-870.
29. Dubowitz V. Muscle biopsy-a practical approach, 3rd edition. Philadelphia: Saunders; 2006.
30. Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jime-nez-Mallebrera C, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006;60:603-610.
31. van Baren MJ, Heutink P. The PCR suite. Bioinformatics 2004;20: 591-593.
32. Su XZ, Wu Y, Sifri CD, Wellems TE. Reduced extension temperatures required for PCR amplification of extremely A{thorn}T-rich DNA. Nucleic Acids Res 1996;24:1574-1575.
33. Jurado LA, Coloma A, Cruces J. Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1. Genomics 1999;58:171-180.
34. Ichimiya T, Manya H, Ohmae Y, Yoshida H, Takahashi K, Ueda R, et al. The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-manno-syltransferase activity. J Biol Chem 2004;279:42638-42647.
35. Willer T, Amselgruber W, Deutzmann R, Strahl S. Characterization of POMT2, a novel member of the PMT protein O-mannosyltransfer-ase family specifically localized to the acrosome of mammalian sper-matids. Glycobiology 2002;12:771-783.
36. Zhang W, Betel D, Schachter H. Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltrans-ferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I. Biochem J 2002;361:153-162.
37. Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2003;12:2853-2861.
38. van Reeuwijk J, Grewal PK, Salih MA, de Beltran-Valero Bernabe D, McLaughlan JM, Michielse CB, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007; 121:685-690.
39. Moore CJ, Goh HT, Hewitt JE. Genes required for functional glyco-sylation of dystroglycan are conserved in zebrafish. Genomics 2008; 92:159-167.
40. Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, et al. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Hum Mutat 2005;25:38-44.