Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome

American Journal of Pathology

Volumn 170, Issue 5, 2007, Pages 1659-1668

  Prados, Belén ^a   Peña, Almudena ^a   Cotarelo, Rocío P ^a   Valero, M Carmen ^a   Cruces, Jesús ^a,b  

^a INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROGLYCAN; MANNOSYLTRANSFERASE; PROTEIN O MANNOSYLTRANSFERASE 1; UNCLASSIFIED DRUG; MESSENGER RNA; PROTEIN O MANNOSYLTRANSFERASE; PROTEIN O-MANNOSYLTRANSFERASE;

ACROSOME; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN DEVELOPMENT; CEREBELLUM; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME GLYCOSYLATION; EYE; GENE EXPRESSION; IMMUNOFLUORESCENCE TEST; IN SITU HYBRIDIZATION; MOUSE; MUSCLE TISSUE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA TRANSLATION; SARCOPLASMIC RETICULUM; SPERMATID; SPERMATOCYTE; SPERMATOGENESIS; WALKER WARBURG SYNDROME; WESTERN BLOTTING; ANIMAL; ANIMAL MUSCULAR DYSTROPHY; BIOSYNTHESIS; BRAIN; EMBRYO; ENZYMOLOGY; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION; GROWTH, DEVELOPMENT AND AGING; HEART MUSCLE; MALE; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PRENATAL DEVELOPMENT; SKELETAL MUSCLE;

ABNORMALITIES, MULTIPLE; ACROSOME; ANIMALS; BLOTTING, WESTERN; BRAIN; DYSTROGLYCANS; EMBRYO; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; IN SITU HYBRIDIZATION; MALE; MANNOSYLTRANSFERASES; MICE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, ANIMAL; MYOCARDIUM; RNA, MESSENGER; SARCOPLASMIC RETICULUM;

EID: 34250854678     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.2353/ajpath.2007.061264     Document Type: Article

References (32)

1. Wilier T, Valero MC, Tanner W, Cruces J, Strahl S: O-Mannosyl glycans: from yeast to novel associations with human disease. Curr Opin Struct Biol 2003, 13:621-630
2. 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
3. Wilier T, Amselgruber W, Deutzmann R, Strahl S: Characterization of POMT2, a novel member of the MANNOSYLTRANSFERASE protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. Glycobiology 2002, 12:771-783
4. Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T: Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci USA 2004, 101:500-505
5. Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T: Physical and functional association of human protein O-mannosyltransferases 1 and 2. J Biol Chem 2006, 281:19339-19345
6. Cohn RD: Dystroglycan: important player in skeletal muscle and beyond. Neuromusc Disord 2005, 15:207-217
7. Jimenez-Mallebrera C, Brown SC, Sewry CA, Muntoni F: Congenital muscular dystrophy: molecular and cellular aspects. Cell Mol Life Sci 2005, 62:809-823
8. Endo T: Structure, function and pathology of O-mannosyl glycans. Glycoconj J 2004, 21:3-7
9. Muntoni F, Voit T: The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromusc Disord 2004, 14:635-649
10. Muntoni F, Brockington M, Torelli S, Brown SC: Defective glycosylation in congenital muscular dystrophies. Curr Opin Neurol 2004, 17:205-209
11. Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, Zimmerman RL, Opitz JM, Reynolds JF: Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989, 32:195-210
12. van Reeuwijk J, Brunner HG, van Bokhoven H: Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet 2005, 67:281-289
13. Vajsar J, Schachter H: Walker-Warburg syndrome. Orphanet J Rare Dis2006, 1:29
14. Beltrán-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG: Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002, 71:1033-1043
15. van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H: The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 2006, 27:453-459
16. van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen M, Verrips A, Walsh C, Barth P, Brunner H, van Bokhoven H: POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome. J Med Genet 2005, 42:907-912
17. Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F: Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 2004, 41:e61
18. de Bernabe DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG: A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet 2003, 40:845-848
19. Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H: An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromusc Disord 2005, 15:271-275
20. Mercuri E, D'Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van Reeuwijk J, Bertini E, Muntoni F, Santorelli FM: POMT2 mutation in a patient with "MEB-like" phenotype. Neuromusc Disord 2006, 16:446-448
21. Wilier T, Prados B, Falcon-Perez JM, Renner-Muller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J: Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Proc Natl Acad Sci USA 2004, 101:14126-14131
22. Hung NA, Silver MM, Chitayat D, Provias J, Toi A, Jay V, Becker LE: Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome. Pediat Dev Pathol 1998, 1:393-404
23. Nagy A, Gertsenstein M, Vintersten K, Behringer R: Manipulating the Mouse Embryo: A Laboratory Manual. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press, 2003, pp 677-684
24. Martin PT: Dystroglycan glycosylation and its role in matrix binding in skeletal muscle. Glycobiology 2003, 13:55R-66R
25. Durbeej M, Henry MD, Ferletta M, Campbell KP, Ekblom P: Distribution of dystroglycan in normal adult mouse tissues. J Histochem Cytochem 1998, 46:449-457
26. Kaufman MH, Bard JBL: The Anatomical Basis of Mouse Development. San Diego, Academic Press, 1999, pp 171-193
27. Hirsch JF, Pierre-Kahn A, Renier D, Sainte-Rose C, Hoppe-Hirsch E: The Dandy-Walker malformation: a review of 40 cases. J Neurosurg 1984, 61:515-522
28. Carpentier A, Brunelle F, Philippon J, Clemenceau S: Obstruction of Magendie's and Luschka's foramina: cine-MRI, aetiology and pathogenesis. Acta Neurochir (Wien) 2001, 143:517-512
29. Kato M, Dobyns WB: Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003, 12(Spec 1):R89-R96
30. Kaufman MH: The Atlas of Mouse Development. San Diego, Academic Press, 1995
31. Hecht NB: Molecular mechanisms of male germ cell differentiation. Bioessays 1998, 20:555-561
32. Abou-Haila A, Tulsiani DR: Mammalian sperm acrosome: formation, contents, and function. Arch Biochem Biophys 2000, 379:173-182