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Dystonin

Neurologically significant human protein

Neurologically significant human protein

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 DST gene.

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 actin cytoskeleton, 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.

Interactions

Dystonin has been shown to interact with collagen, type XVII, alpha 1, DCTN1, MAP1B and erbin.

Loss of function in neurological disease

Several Dst mutant mouse lines have been described which share the common feature of having sensory neuron degeneration. In humans, loss of dystonin function can cause hereditary sensory and autonomic neuropathy type VI and axonal Charcot-Marie-Tooth disease. In both human diseases, pathology is likely attributable to the loss of the dystonin-a2 protein isoform, which plays a role in neuronal autophagy.

References

References

  1. (December 1988). "Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies". The Journal of Clinical Investigation.
  2. (December 1990). "Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6". Genomics.
  3. "Entrez Gene: DST dystonin".
  4. (January 2003). "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly". Journal of Cell Science.
  5. (January 2000). "The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome". Molecular Biology of the Cell.
  6. (October 2003). "BPAG1n4 is essential for retrograde axonal transport in sensory neurons". The Journal of Cell Biology.
  7. (November 2011). "MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin". Journal of Proteome Research.
  8. (August 2001). "The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression". The Journal of Biological Chemistry.
  9. (December 2005). "Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression". Mammalian Genome.
  10. (December 2007). "Dystonin/Bpag1--a link to what?". Cell Motility and the Cytoskeleton.
  11. (September–December 2023). "The DST gene in neurobiology". Journal of Neurogenetics.
  12. (February 2020). "HSAN-VI: A spectrum disorder based on dystonin isoform expression". Neurology. Genetics.
  13. (October 2020). "Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy". Neurology. Genetics.
  14. (2015). "Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice". Autophagy.
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