BPAG1 in muscles: Structure and function in skeletal, cardiac and smooth muscle

作者：Horie Masao; Yoshioka Nozomu; Takebayashi Hirohide^*

来源：Seminars in Cell & Developmental Biology, 2017, 69: 26-33.

DOI：10.1016/j.semcdb.2017.07.016

• Bullous pemphigoid antigen 1 (BPAG1)
• BP230
• Dystonin (Dst)
• Dystonia musculorum (dt) mice
• Skeletal muscle
• Myocardium

BPAG1, also known as Dystonin or BP230, belongs to the plakin family of proteins, which has multiple cytoskeleton-binding domains. Several BPAG1 isoforms are produced by a single BPAG1 genomic locus using different promoters and exons. For example, BPAG1 a, BPAG1b, and BPAG1 e are predominantly expressed in the nervous system, muscle, and skin, respectively. Among BPAG1 isoforms, BPAG1 e is well studied because it was first identified as an autoantigen in patients with bullous pemphigoid, an autoimmune skin disease. BPAG1 e is a component of hemidesmosomes, the adhesion complexes that promote dermal-epidermal cohesion. In the nervous system, the role of BPAG1 a is also well studied because disruption of BPAG I a results in a phenotype identical to that of Dystonia musculorum (dt) mutants, which show progressive motor disorder. However, the expression and function of BPAG1 in muscles is not well studied. The aim of this review is to provide an overview of and highlight some recent findings on the expression and function of BPAG1 in muscles, which can assist future studies designed to delineate the role and regulation of BPAG1 in the dt mouse phenotype and in human hereditary sensory and autonomic neuropathy type 6 (HSAN6).

• 出版日期2017-9