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One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.

  • Künzli K Department of Dermatology, Inselspital, Bern University Hospital, Bern, Switzerland.
  • Favre B Department of Dermatology, Inselspital, Bern University Hospital, Bern, Switzerland.
  • Chofflon M Department of Clinical Neurosciences, Geneva University Hospitals, Geneva, Switzerland.
  • Borradori L Department of Dermatology, Inselspital, Bern University Hospital, Bern, Switzerland.
  • 2015-10-20
Published in:
  • Experimental dermatology. - 2016
BP230
BPAG1
Dystonia musculorum
bullous pemphigoid
dystonin
epidermolysis bullosa simplex
neurological disease
plakin
sensory autonomic neuropathy
Animals
Autoantigens
Cell Adhesion
Cell Movement
Cytoskeleton
Dystonin
Epithelial Cells
Exons
Gene Expression Profiling
Gene Expression Regulation
Homeostasis
Humans
Immunohistochemistry
Mice
Muscle, Skeletal
Muscles
Mutation
Neurons
Pemphigoid, Bullous
Plakins
Protein Domains
Protein Isoforms
English Since the immunochemical identification of the bullous pemphigoid antigen 230 (BP230) as one of the major target autoantigens of bullous pemphigoid (BP) in 1981, our understanding of this protein has significantly increased. Cloning of its gene, development and characterization of animal models with engineered gene mutations or spontaneous mouse mutations have revealed an unexpected complexity of the gene encoding BP230. The latter, now called dystonin (DST), is composed of at least 100 exons and gives rise to three major isoforms, an epithelial, a neuronal and a muscular isoform, named BPAG1e (corresponding to the original BP230), BPAG1a and BPAG1b, respectively. The various BPAG1 isoforms play a key role in fundamental processes, such as cell adhesion, cytoskeleton organization, and cell migration. Genetic defects of BPAG1 isoforms are the culprits of epidermolysis bullosa and complex, devastating neurological diseases. In this review, we summarize recent advances of our knowledge about several BPAG1 isoforms, their role in various biological processes and in human diseases.
Language
  • English
Open access status
bronze
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Persistent URL
https://sonar.ch/global/documents/268065
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