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Cited by 451Muscle Physiology and DisordersCell Adhesion Molecules ResearchInflammatory Myopathies and Dermatomyositis

Absence of integrin α7 causes a novel form of muscular dystrophy

Mayer, Ulrike, Saher, Gesine, Fässler, Reinhard, Bornemann, Antje, Echtermeyer, Frank, Mark, Helga von der, Miosge, Nicolai, Pösch, Ernst +1 more·1997·Nature Genetics
DOI 10.1038/ng1197-318
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Abstract

Integrin alpha 7 beta 1 is a specific cellular receptor for the basement membrane protein laminin-1 (refs 1,2), as well as for the laminin isoforms -2 and -4 (ref. 3). The alpha 7 subunit is expressed mainly in skeletal and cardiac muscle and has been suggested to be involved in differentiation and migration processes during myogenesis. Three cytoplasmic and two extracellular splice variants that have been described are developmentally regulated and expressed in different sites in the muscle. In adult muscle, the alpha 7A and alpha 7B subunits are concentrated in myotendinous junctions but can also be detected in neuromuscular junctions and along the sarcolemmal membrane. To study the potential involvement of alpha 7 integrin, during myogenesis and its role in muscle integrity and function, we generated a null allele of the alpha 7 gene (Itga7) in the germline of mice by homologous recombination in embryonic stem (ES) cells. Surprisingly, mice homozygous for the mutation are viable and fertile, indicating that the alpha 7 beta 1 integrin is not essential for myogenesis. However, histological analysis of skeletal muscle revealed typical symptoms of a progressive muscular dystrophy starting soon after birth, but with a distinct variability in different muscle types. The observed histopathological changes strongly indicate an impairment of function of the myotendinous junctions. These findings demonstrate that alpha 7 beta 1 integrin represents an indispensable linkage between the muscle fibre and the extracellular matrix that is independent of the dystrophin-dystroglycan complex-mediated interaction of the cytoskeleton with the muscle basement membrane.

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Authors
Mayer, U., Saher, G., Fässler, R., Bornemann, A., Echtermeyer, F., Mark, H. V. D., Miosge, N., Pösch, E., & Mark, K. V. D.
Affiliations
  • Max Planck Institute of Biochemistry (DE)
  • University of Tübingen (DE)
  • Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
  • University of Göttingen (DE)
ORCID
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
1997-11
Volume
17
Issue
3
Pages
318-323
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng1197-318
OpenAlex
W2052569682
Cited by
451
References
32
Citations by year
2026: 8 · 2025: 10 · 2024: 4 · 2023: 10 · 2022: 11 · 2021: 8 · 2020: 9 · 2019: 13 · 2018: 10 · 2017: 14 · 2016: 16 · 2015: 16 · 2014: 5 · 2013: 17 · 2012: 21
FWCI
7.35
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • UEA Digital Repository (University of East Anglia) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
  • Health Sciences › Medicine › Immunology and Allergy › Cell Adhesion Molecules Research
  • Health Sciences › Medicine › Epidemiology › Inflammatory Myopathies and Dermatomyositis
Keywords
ITGA7, laminin-1, laminin isoforms, muscular dystrophy, myotendinous junction, basement membrane, extracellular matrix, myogenesis, skeletal muscle, null alleles, mouse model
MeSH terms
Animals, Extremities, Female, Flow Cytometry, Homozygote, Male, Mice, Inbred Strains, Mice, Transgenic, Molecular Sequence Data, Muscular Dystrophy, Animal, Phagocytosis, Recombination, Genetic, Tendons, Antigens, CD, Mice, Inbred mdx, Muscle, Skeletal, Muscle Fibers, Skeletal, Tenascin, Integrin alpha Chains, Mice

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