Literature DB >> 1319059

A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.

D Lederfein1, Z Levy, N Augier, D Mornet, G Morris, O Fuchs, D Yaffe, U Nudel.   

Abstract

The known Duchenne muscular dystrophy (DMD) gene products, the muscle- and brain-type dystrophin isoforms, are 427-kDa proteins translated from 14-kilobase (kb) mRNAs. Recently we described a 6.5-kb mRNA that also is transcribed from the DMD gene. Cloning and in vitro transcription and translation of the entire coding region show that the 6.5-kb mRNA encodes a 70.8-kDa protein that is a major product of the DMD gene. It contains the C-terminal and the cysteine-rich domains of dystrophin, seven additional amino acids at the N terminus, and some modifications formed by alternative splicing in the C-terminal domain. It lacks the entire large domain of spectrin-like repeats and the actin-binding N-terminal domain of dystrophin. This protein is the major DMD gene product in brain and other nonmuscle tissues but is undetectable in skeletal muscle extracts.

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Year:  1992        PMID: 1319059      PMCID: PMC49288          DOI: 10.1073/pnas.89.12.5346

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  23 in total

1.  Immunoelectron microscopic localization of dystrophin in myofibres.

Authors:  S C Watkins; E P Hoffman; H S Slayter; L M Kunkel
Journal:  Nature       Date:  1988-06-30       Impact factor: 49.962

2.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

3.  Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain.

Authors:  U Nudel; K Robzyk; D Yaffe
Journal:  Nature       Date:  1988-02-18       Impact factor: 49.962

Review 4.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin.

Authors:  A J Cartwright; G E Morris; D R Love; J F Bloomfield; K E Davies
Journal:  FEBS Lett       Date:  1990-03-26       Impact factor: 4.124

6.  Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene.

Authors:  D Rapaport; D Lederfein; J T den Dunnen; P M Grootscholten; G J Van Ommen; O Fuchs; U Nudel; D Yaffe
Journal:  Differentiation       Date:  1992-04       Impact factor: 3.880

7.  Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.

Authors:  M Kozak
Journal:  Cell       Date:  1986-01-31       Impact factor: 41.582

8.  The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

Authors:  M Koenig; A P Monaco; L M Kunkel
Journal:  Cell       Date:  1988-04-22       Impact factor: 41.582

9.  Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide.

Authors:  K Arahata; S Ishiura; T Ishiguro; T Tsukahara; Y Suhara; C Eguchi; T Ishihara; I Nonaka; E Ozawa; H Sugita
Journal:  Nature       Date:  1988-06-30       Impact factor: 49.962

10.  The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken.

Authors:  C Lemaire; R Heilig; J L Mandel
Journal:  EMBO J       Date:  1988-12-20       Impact factor: 11.598

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  57 in total

1.  ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy.

Authors:  K M Fitzgerald; G W Cibis; A H Gettel; R Rinaldi; D J Harris; R A White
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

2.  Monoclonal antibodies for dystrophin analysis. Epitope mapping and improved binding to SDS-treated muscle sections.

Authors:  T M Nguyen; I B Ginjaar; G J van Ommen; G E Morris
Journal:  Biochem J       Date:  1992-12-01       Impact factor: 3.857

Review 3.  Metabolic profiles to define the genome: can we hear the phenotypes?

Authors:  Julian L Griffin
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2004-06-29       Impact factor: 6.237

4.  Dystrophin Dp71 is critical for stability of the DAPs in the nucleus of PC12 cells.

Authors:  Marcela Villarreal-Silva; Rocío Suárez-Sánchez; Rafael Rodríguez-Muñoz; Dominique Mornet; Bulmaro Cisneros
Journal:  Neurochem Res       Date:  2009-09-27       Impact factor: 3.996

5.  Dp71, utrophin and beta-dystroglycan expression and distribution in PC12/L6 cell cocultures.

Authors:  Ramses Ilarraza-Lomeli; Bulmaro Cisneros-Vega; Maria de Lourdes Cervantes-Gomez; Dominique Mornet; Cecilia Montañez
Journal:  Neuroreport       Date:  2007-10-29       Impact factor: 1.837

6.  Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy.

Authors:  T M Nguyen; G E Morris
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

7.  Dystrophin and dystrophin-related protein in the central nervous system of normal controls and Duchenne muscular dystrophy.

Authors:  M Uchino; H Teramoto; H Naoe; T Miike; K Yoshioka; M Ando
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

8.  Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature.

Authors:  Uberto Pozzoli; Greg Elgar; Rachele Cagliani; Laura Riva; Giacomo P Comi; Nereo Bresolin; Alessandra Bardoni; Manuela Sironi
Journal:  Genome Res       Date:  2003-05       Impact factor: 9.043

9.  Localisation and characterisation of dystrophin in the central nervous system of controls and patients with Duchenne muscular dystrophy.

Authors:  M Uchino; H Teramoto; H Naoe; K Yoshioka; T Miike; M Ando
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-04       Impact factor: 10.154

10.  Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions.

Authors:  Fatma Daoud; Aurora Candelario-Martínez; Jean-Marie Billard; Avi Avital; Malik Khelfaoui; Yael Rozenvald; Maryvonne Guegan; Dominique Mornet; Danielle Jaillard; Uri Nudel; Jamel Chelly; Dalila Martínez-Rojas; Serge Laroche; David Yaffe; Cyrille Vaillend
Journal:  PLoS One       Date:  2008-08-10       Impact factor: 3.240

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