Exclusive paternal expression and novel alternatively spliced variants of ε-sarcoglycan mRNA in mouse brain

FEBS Letters

Volumn 579, Issue 21, 2005, Pages 4822-4828

  Yokoi, Fumiaki ^a   Dang, Mai T ^a   Mitsui, Shinichi ^a,b   Li, Yuqing ^a  

^a UNIVERSITY OF ILLINOIS AT URBANA CHAMPAIGN   (United States)

^b KOCHI MEDICAL SCHOOL   (Japan)

Author keywords

Sarcoglycan; Sarcoglycan gene; Imprinting; Myoclonus dystonia; PDZ binding motif

Indexed keywords

MESSENGER RNA; SARCOGLYCAN;

ALTERNATIVE RNA SPLICING; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN TISSUE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DNA POLYMORPHISM; DYSTONIA; HETEROZYGOSITY; KNOCKOUT MOUSE; MOUSE; MYOCLONUS; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FAMILY; PROTEIN MOTIF; PROTEIN VARIANT;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BRAIN; GENE TARGETING; GENETIC MARKERS; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MYOCLONUS; POLYMORPHISM, GENETIC; RNA, MESSENGER, STORED; SARCOGLYCANS;

EID: 24044528592     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2005.07.065     Document Type: Article

References (38)

1. A. Smallwood, A. Papageorghiou, K. Nicolaides, M.K. Alley, A. Jim, G. Nargund, K. Ojha, S. Campbell, and S. Banerjee Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta Biol. Reprod. 69 2003 286 293
2. E.M. McNally, C.T. Ly, and L.M. Kunkel Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene FEBS Lett. 422 1998 27 32
3. C. Klein, and L.J. Ozelius Dystonia: clinical features, genetics, and treatment Curr. Opin. Neurol. 15 2002 491 497
4. A. Zimprich, M. Grabowski, F. Asmus, M. Naumann, D. Berg, M. Bertram, K. Scheidtmann, P. Kern, J. Winkelmann, B. Muller-Myhsok, L. Riedel, M. Bauer, T. Muller, M. Castro, T. Meitinger, T.M. Strom, and T. Gasser Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome Nat. Genet. 29 2001 66 69
5. A.H. Nemeth The genetics of primary dystonias and related disorders Brain 125 2002 695 721
6. S. Fahn Concept and classification of dystonia Adv. Neurol. 50 1988 1 8
7. F. Asmus, and T. Gasser Inherited myoclonus-dystonia Adv. Neurol. 94 2004 113 119
8. F. Asmus, A. Zimprich, S. Tezenas Du Montcel, C. Kabus, G. Deuschl, A. Kupsch, U. Ziemann, M. Castro, A.A. Kuhn, T.M. Strom, M. Vidailhet, K.P. Bhatia, A. Durr, N.W. Wood, A. Brice, and T. Gasser Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype Ann. Neurol. 52 2002 489 492
9. M. Grabowski, A. Zimprich, B. Lorenz-Depiereux, V. Kalscheuer, F. Asmus, T. Gasser, T. Meitinger, and T.M. Strom The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted Eur. J. Hum. Genet. 11 2003 138 144
10. B. Muller, K. Hedrich, N. Kock, N. Dragasevic, M. Svetel, J. Garrels, O. Landt, M. Nitschke, P.P. Pramstaller, W. Reik, E. Schwinger, J. Sperner, L. Ozelius, V. Kostic, and C. Klein Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia Am. J. Hum. Genet. 71 2002 1303 1311
11. A.J. Ettinger, G. Feng, and J.R. Sanes epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D J. Biol. Chem. 272 1997 32534 32538
12. A.J. Ettinger, G. Feng, and J.R. Sanes Additions and corrections to epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D J. Biol. Chem. 273 1998 19922
13. V. Straub, A.J. Ettinger, M. Durbeej, D.P. Venzke, S. Cutshall, J.R. Sanes, and K.P. Campbell epsilon-Sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex J. Biol. Chem. 274 1999 27989 27996
14. R. Ono, H. Shiura, H. Aburatani, T. Kohda, T. Kaneko-Ishino, and F. Ishino Identification of a large novel imprinted gene cluster on mouse proximal chromosome 6 Genome Res. 13 2003 1696 1705
15. G. Piras, A. Kharroubi, S. Kozlov, D. Escalante-Alcalde, L. Hernandez, N.G. Copeland, D.J. Gilbert, N.A. Jenkins, and C.L. Stewart El Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines Mol. Cell. Biol. 20 2000 3308 3315
16. H. Guo, C. Mao, X.L. Jin, H. Wang, Y.T. Tu, P.P. Avasthi, and Y. Li Cre-mediated cerebellum- and hippocampus-restricted gene mutation in mouse brain Biochem. Biophys. Res. Commun. 269 2000 149 154
17. B. Sauer, and N. Henderson Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage P1 Proc. Natl. Acad. Sci. USA 85 1988 5166 5170
18. M.R. Snaith, J.A. Murray, and C.A. Boulter Multiple cloning sites carrying loxP and FRT recognition sites for the Cre and Flp site-specific recombinases Gene 166 1995 173 174
19. M.P. Matise, W. Auerbach, and A.L. Joyner A.L. Joyner Gene Targeting 2000 Oxford University Press New York 101 132
20. V. Papaioannou, and R. Johnson A.L. Joyner Gene Targeting 2000 Oxford University Press New York 133 175
21. F. Schwenk, U. Baron, and K. Rajewsky A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells Nucleic Acids Res. 23 1995 5080 5081
22. F.W. Farley, P. Soriano, L.S. Steffen, and S.M. Dymecki Widespread recombinase expression using FLPeR (flipper) mice Genesis 28 2000 106 110
23. A. Nishiyama, T. Endo, S. Takeda, and M. Imamura Identification and characterization of epsilon-sarcoglycans in the central nervous system Brain Res. Mol. Brain Res. 125 2004 1 12
24. P.A. Frischmeyer, and H.C. Dietz Nonsense-mediated mRNA decay in health and disease Hum. Mol. Genet. 8 1999 1893 1900
25. M. Burset, I.A. Seledtsov, and V.V. Solovyev Analysis of canonical and non-canonical splice sites in mammalian genomes Nucleic Acids Res. 28 2000 4364 4375
26. M. Sheng, and C. Sala PDZ domains and the organization of supramolecular complexes Annu. Rev. Neurosci. 24 2001 1 29
27. A. Fujita, and Y. Kurachi SAP family proteins Biochem. Biophys. Res. Commun. 269 2000 1 6
28. U. Gyllensten, D. Wharton, A. Josefsson, and A.C. Wilson Paternal inheritance of mitochondrial DNA in mice Nature 352 1991 255 257
29. H. Kaneda, J. Hayashi, S. Takahama, C. Taya, K.F. Lindahl, and H. Yonekawa Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis Proc. Natl. Acad. Sci. USA 92 1995 4542 4546
30. J.C. Leung, C. Klein, J. Friedman, P. Vieregge, H. Jacobs, D. Doheny, C. Kamm, D. DeLeon, P.P. Pramstaller, J.B. Penney, M. Eisengart, J. Jankovic, T. Gasser, S.B. Bressman, D.P. Corey, P. Kramer, M.F. Brin, L.J. Ozelius, and X.O. Breakefield Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism Neurogenetics 3 2001 133 143
31. Y. Furukawa, and A.H. Rajput Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes? Neurology 59 2002 1130 1131
32. E.M. Valente, A. Misbahuddin, F. Brancati, M.R. Placzek, B. Garavaglia, S. Salvi, A. Nemeth, C. Shaw-Smith, N. Nardocci, A.R. Bentivoglio, A. Berardelli, R. Eleopra, B. Dallapiccola, and T.T. Warner Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity Mov. Disord. 18 2003 1047 1051
33. E.M. Valente, M.J. Edwards, P. Mir, A. DiGiorgio, S. Salvi, M. Davis, N. Russo, M. Bozi, H.T. Kim, G. Pennisi, N. Quinn, B. Dallapiccola, and K.P. Bhatia The epsilon-sarcoglycan gene in myoclonic syndromes Neurology 64 2005 737 739
34. B. Schule, N. Kock, M. Svetel, N. Dragasevic, K. Hedrich, P. De Carvalho Aguiar, L. Liu, K. Kabakci, J. Garrels, E.M. Meyer, I. Berisavac, E. Schwinger, P.L. Kramer, L.J. Ozelius, C. Klein, and V. Kostic Genetic heterogeneity in ten families with myoclonus-dystonia J. Neurol. Neurosurg. Psychiatry 75 2004 1181 1185
35. K. Grundmann, U. Laubis-Herrmann, D. Dressler, J. Vollmer-Haase, P. Bauer, M. Stuhrmann, T. Schulte, L. Schols, H. Topka, and O. Riess Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias Mov. Disord. 19 2004 1294 1297
36. F. Han, A.E. Lang, L. Racacho, D.E. Bulman, and D.A. Grimes Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families Neurology 61 2003 244 246
37. J.E. Brenman, D.S. Chao, S.H. Gee, A.W. McGee, S.E. Craven, D.R. Santillano, Z. Wu, F. Huang, H. Xia, M.F. Peters, S.C. Froehner, and D.S. Bredt Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains Cell 84 1996 757 767
38. S. Kameya, Y. Miyagoe, I. Nonaka, T. Ikemoto, M. Endo, K. Hanaoka, Y. Nabeshima, and S. Takeda alpha1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration J. Biol. Chem. 274 1999 2193 2200