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

Künzli, Kseniia; Favre, Bertrand; Chofflon, Michel; Borradori, Luca (2016). One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1. Experimental dermatology, 25(1), pp. 10-16. Blackwell 10.1111/exd.12877

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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.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Dermatology

UniBE Contributor:

Favre, Bertrand and Borradori, Luca


600 Technology > 610 Medicine & health








Sandra Nyffenegger

Date Deposited:

09 Mar 2016 10:58

Last Modified:

15 Sep 2017 13:10

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

BP230; BPAG1; Dystonia musculorum; bullous pemphigoid; dystonin; epidermolysis bullosa simplex; neurological disease; plakin; sensory autonomic neuropathy




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