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PMID: 2014247 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse.

Love DR, Morris GE, Ellis JM, Fairbrother U, Marsden RF, Bloomfield JF, Edwards YH, Slater CP, Parry DJ, Davies KE

Abstract

We have previously reported a dystrophin-related locus (DMDL for Duchenne muscular dystrophy-like) on human chromosome 6 that maps close to the dy mutation on mouse chromosome 10. Here we show that this gene is expressed in a wide range of tissues at varying levels. The transcript is particularly abundant in several human fetal tissues, including heart, placenta, and intestine. Studies with antisera raised against a DMDL fusion protein identify a 400,000 Mr protein in all mouse tissues tested, including those of mdx and dy mice. Unlike the dystrophin gene, the DMDL gene transcript is not differentially spliced at the 3' end in either fetal muscle or brain.

Related Genes
MeSH Terms
Animals Blotting, Northern Blotting, Western Dystrophin/genetics Humans Liver/metabolism Mice Mice, Mutant Strains Muscle Proteins/genetics,immunology,metabolism Muscles/metabolism Muscular Dystrophy, Animal/genetics Polymerase Chain Reaction RNA Splicing RNA, Messenger/metabolism Sequence Homology, Nucleic Acid Species Specificity Tissue Distribution
Chemicals
Dystrophin Muscle Proteins RNA, Messenger
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Love D R
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom.
Morris G E
Ellis J M
Fairbrother U
Marsden R F
Bloomfield J F
Edwards Y H
Slater C P
Parry D J
Davies K E
References (33)
33 references, click to expand
  1. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
    Am J Hum Genet. 1989 Oct;45(4):498-506 PMID: 2491009
  2. Shedding light on PCR contamination.
    Nature. 1990 Jan 4;343(6253):27 PMID: 2296286
  3. Immunoelectron microscopic localization of dystrophin in myofibres.
    Nature. 1988 Jun 30;333(6176):863-6 PMID: 3290684
  4. alpha-Actinins and the DMD protein contain spectrin-like repeats.
    Cell. 1988 Jan 29;52(2):159-60 PMID: 3342446
  5. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.
    Nature. 1989 Apr 6;338(6215):509-11 PMID: 2648158
  6. Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene.
    Nucleic Acids Res. 1987 Dec 10;15(23):9761-9 PMID: 3697082
  7. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
    Cell. 1987 Jul 31;50(3):509-17 PMID: 3607877
  8. Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose.
    Proc Natl Acad Sci U S A. 1980 Sep;77(9):5201-5 PMID: 6159641
  9. Relationship between myosin isoenzyme composition, hemodynamics, and myocardial structure in various forms of human cardiac hypertrophy.
    Circ Res. 1985 Nov;57(5):729-40 PMID: 2932264
  10. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
    Cell. 1988 Apr 22;53(2):219-28 PMID: 3282674
  11. Myosin isoenzymes in normal and hypertrophied human ventricular myocardium.
    Circ Res. 1983 Jul;53(1):52-62 PMID: 6222846
  12. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene.
    Cell. 1990 Sep 7;62(5):991-8 PMID: 2144212
  13. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
    Am J Hum Genet. 1989 Dec;45(6):835-47 PMID: 2573997
  14. Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin.
    Cell. 1987 Oct 9;51(1):1 PMID: 3652206
  15. Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin.
    FEBS Lett. 1990 Mar 26;262(2):237-40 PMID: 1692289
  16. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle.
    Nature. 1988 Jun 2;333(6172):466-9 PMID: 3287171
  17. The 3'-untranslated sequence of human skeletal muscle alpha-actin mRNA.
    J Muscle Res Cell Motil. 1984 Aug;5(4):457-64 PMID: 6207203
  18. Antibody against the C-terminal portion of dystrophin crossreacts with the 400 kDa protein in the pia mater of dystrophin-deficient mdx mouse brain.
    J Biochem. 1990 Apr;107(4):510-3 PMID: 2193022
  19. Dystrophia Muscularis: A HEREDITARY PRIMARY MYOPATHY IN THE HOUSE MOUSE.
    Proc Natl Acad Sci U S A. 1955 Dec 15;41(12):1079-84 PMID: 16589799
  20. Duchenne muscular dystrophy: the gene and the protein.
    Mol Biol Med. 1989 Feb;6(1):7-17 PMID: 2666821
  21. An autosomal transcript in skeletal muscle with homology to dystrophin.
    Nature. 1989 May 4;339(6219):55-8 PMID: 2541343
  22. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
    Cell. 1987 Jan 30;48(2):351-7 PMID: 3026644
  23. Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
    Cell. 1987 Dec 24;51(6):919-28 PMID: 3319190
  24. Association of dystrophin and an integral membrane glycoprotein.
    Nature. 1989 Mar 16;338(6212):259-62 PMID: 2493582
  25. Report of the committee on the genetic constitution of chromosome 6.
    Cytogenet Cell Genet. 1989;51(1-4):149-65 PMID: 2676368
  26. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle.
    Nature. 1990 May 24;345(6273):315-9 PMID: 2188135
  27. Dystrophin gene transcribed from different promoters in neuronal and glial cells.
    Nature. 1990 Mar 1;344(6261):64-5 PMID: 2406613
  28. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
    N Engl J Med. 1988 May 26;318(21):1363-8 PMID: 3285207
  29. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies.
    Genomics. 1988 Feb;2(2):109-14 PMID: 3410474
  30. Characterization of deletions in the dystrophin gene giving mild phenotypes.
    Am J Med Genet. 1990 Sep;37(1):136-42 PMID: 2240031
  31. Changes in skeletal muscle gene transcription induced by chronic stimulation.
    Muscle Nerve. 1988 Nov;11(11):1183-9 PMID: 3147374
  32. Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus.
    Hum Genet. 1990 Aug;85(3):324-6 PMID: 2203673
  33. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
    Cell. 1990 Sep 7;62(5):999-1006 PMID: 1975517
Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
Published
1991-04-15
Pages
3243-7
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC51422
Subset
IM
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