Dystonin(DST), also known as bullous pemphigoid antigen 1 (BPAG1), isoforms 1/2/3/4/5/8, is a protein that in humans is encoded by the DSTgene.[3][4][5]
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been known that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actincytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration.[5]
Several Dst mutant mouse lines have been described which share the common feature of having sensory neuron degeneration.
Charcot-Marie-Tooth disease.[15] In both human diseases, pathology is likely attributable to the loss of the dystonin-a2 protein isoform, which plays a role in neuronal autophagy.[16]
Sawamura D, Li KH, Nomura K, Sugita Y, Christiano AM, Uitto J (June 1991). "Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene". The Journal of Investigative Dermatology. 96 (6): 908–15.
Owaribe K, Kartenbeck J, Stumpp S, Magin TM, Krieg T, Diaz LA, Franke WW (December 1990). "The hemidesmosomal plaque. I. Characterization of a major constituent protein as a differentiation marker for certain forms of epithelia". Differentiation; Research in Biological Diversity. 45 (3): 207–20.
Nomura K, Sugawara T, Sato T, Sawamura D, Hashimoto I, Sugita Y, Uitto J (1995). "Expression of laminin, type IV procollagen and 230 kDa bullous pemphigoid antigen genes by keratinocytes and fibroblasts in culture: application of the polymerase chain reaction for detection of small amounts of messenger RNA". Archives of Dermatological Research. 286 (7): 408–13.
Brown A, Lemieux N, Rossant J, Kothary R (July 1994). "Human homolog of a mouse sequence from the dystonia musculorum locus is on chromosome 6p12". Mammalian Genome. 5 (7): 434–7.
Elgart GW, Stanley JR (August 1993). "Cloning of the 5' mRNA for the 230-kD bullous pemphigoid antigen by rapid amplification of cDNA ends". The Journal of Investigative Dermatology. 101 (2): 244–6.
Brown A, Dalpé G, Mathieu M, Kothary R (October 1995). "Cloning and characterization of the neural isoforms of human dystonin". Genomics. 29 (3): 777–80.
