Literature DB >> 2541343

An autosomal transcript in skeletal muscle with homology to dystrophin.

D R Love1, D F Hill, G Dickson, N K Spurr, B C Byth, R F Marsden, F S Walsh, Y H Edwards, K E Davies.   

Abstract

The Duchenne muscular dystrophy (DMD) gene has been localized to chromosome Xp21 and codes for a 14-kilobase (kb) transcript and a protein called dystrophin, of relative molecular mass 427,000. Dystrophin is associated with the cytoplasmic face of muscle fibre membranes and its C-terminal domain is thought to mediate membrane attachment. Although N-terminal and central domain structures share common features with other cytoskeletal components, no significant sequence similarity between the C-terminal region of dystrophin and other previously characterized proteins has been described. Here we report that fragments from the C-terminal domain of the DMD complementary DNA detect a closely related sequence which exhibits nucleic-acid and predicted amino-acid identities with dystrophin of approximately 65 and 80%, respectively. The dystrophin-related sequence identifies a 13-kb transcript in human fetal muscle and maps to chromosome 6. Thus, dystrophin may be a member of a family of functionally related large structural proteins in muscle.

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Year:  1989        PMID: 2541343     DOI: 10.1038/339055a0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  138 in total

1.  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

2.  Report of ENMC workshop on the limb-girdle muscular dystrophies.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

Review 3.  Recent advances in understanding muscular dystrophy.

Authors:  K M Bushby
Journal:  Arch Dis Child       Date:  1992-10       Impact factor: 3.791

Review 4.  Nicotinic receptor-associated 43K protein and progressive stabilization of the postsynaptic membrane.

Authors:  J A Hill
Journal:  Mol Neurobiol       Date:  1992       Impact factor: 5.590

5.  Comparative proteomic profiling of dystroglycan-associated proteins in wild type, mdx, and Galgt2 transgenic mouse skeletal muscle.

Authors:  Jung Hae Yoon; Eric Johnson; Rui Xu; Laura T Martin; Paul T Martin; Federica Montanaro
Journal:  J Proteome Res       Date:  2012-07-30       Impact factor: 4.466

Review 6.  Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials.

Authors:  Yuko Shimizu-Motohashi; Shouta Miyatake; Hirofumi Komaki; Shin'ichi Takeda; Yoshitsugu Aoki
Journal:  Am J Transl Res       Date:  2016-06-15       Impact factor: 4.060

Review 7.  What has the mdx mouse model of Duchenne muscular dystrophy contributed to our understanding of this disease?

Authors:  Jennifer Manning; Dervla O'Malley
Journal:  J Muscle Res Cell Motil       Date:  2015-02-11       Impact factor: 2.698

8.  Microutrophin delivery through rAAV6 increases lifespan and improves muscle function in dystrophic dystrophin/utrophin-deficient mice.

Authors:  Guy L Odom; Paul Gregorevic; James M Allen; Eric Finn; Jeffrey S Chamberlain
Journal:  Mol Ther       Date:  2008-07-29       Impact factor: 11.454

9.  Sequence analysis of two exons from the murine dystrophin locus.

Authors:  M K Maconochie; S D Brown; A J Greenfield
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

10.  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

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