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Gene Review

Dst  -  dystonin

Mus musculus

Synonyms: 2310001O04Rik, A830042E19Rik, AW554249, BP230, BPA, ...
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Disease relevance of Dst


Psychiatry related information on Dst


High impact information on Dst


Chemical compound and disease context of Dst

  • Characterization of components of this protein mixture was undertaken using human autoantibodies from bullous pemphigoid (BP) patients that have been shown to recognize hemidesmosomal plaque elements (Mutasim, D. F., Y. Takahashi, R. S. Labib, G. J. Anhalt, H. P. Patel, and L. A. Diaz. 1985. J. Invest. Dermatol. 84:47-53) and by production of mAbs [9].
  • We report here studies to determine the fate of the hemidesmosome components, alpha 6 beta 4 integrin and the bullous pemphigoid antigens (BPAGs), as recognized by bullous pemphigoid autoantisera (BPA), in migrating epithelium [10].
  • The time courses (0.5, 2.0, 4.0 and 48.0 h) of boron concentrations in melanoma, normal skin, and blood were determined in male Syrian (golden) hamsters bearing Greene's melanomas following a single intraperitoneal injection of either p-, m- or o-BPA (100 mg/kg of BPA fructose in 1.0 ml of saline) [11].

Biological context of Dst

  • The BPAG1 locus: Alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles [12].
  • Only Va and dt appear to be associated with some deficiency in DNA repair [13].
  • Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration [8].
  • We describe here a line of mice in which an hsp68-lacZ transgene is expressed in unstressed developing neural tissue and where the transgene insertion has caused a mutation of a neural tissue-specific gene, dystonia musculorum (dt) [14].
  • This direct correlation of genotype and phenotype indicates that the dt mutation acts via a mechanism intrinsic to affected neurons [15].

Anatomical context of Dst


Associations of Dst with chemical compounds

  • Bullous pemphigoid antigen 1 (BPAG1) is a member of the plakin family with cytoskeletal linker properties [12].
  • Dopamine (DA) uptake sites, or transporters, were examined with [125I]RTI-121 in mutant mice that exhibit motor control deficits, namely weaver, lurcher and dystonia musculorum [18].
  • Trehalose conserves expression of bullous pemphigoid antigen 180 during desiccation and freezing [19].
  • The binding sites of four other lectins, WGA, MPA, Con A and BPA, remained expressed during the course of development, being indicative for the carbohydrate side-chains beta-GlcNAc(1-4)Gluc, alpha-Gal(1-3)GalNAc, alpha-D-Man/alpha-D-Gluc and alpha-GalNAc [20].
  • Bisphenol A [2, 2 bis (4-hydoxyphenyl) propane; BPA] is a widely used endocrine disruptors and has estrogenic activities [21].

Physical interactions of Dst

  • In this paper we show by a variety of methods that the COOH-terminal tail domain of mouse BPAG1 interacts specifically with peripherin, but in contrast to a previous study (Yang, Y., J. Dowling, Q.C. Yu, P. Kouklis, D.W. Cleveland, and E. Fuchs. 1996. Cell. 86:655-665), mouse BPAG1 fails to associate with full-length NFTPs [16].
  • Sequence analysis revealed extended homology of mACF7 with both the actin binding domain (ABD) and the Bpag1 portions of dystonin [22].

Co-localisations of Dst


Regulatory relationships of Dst


Other interactions of Dst

  • Moreover, mACF7 and Dst display similar isoform diversity and encode similar sized transcripts in the nervous system [22].
  • Several proteins belonging to the plakin family of cytoskeletal linker proteins have recently been identified, including dystonin/Bpag1 and plectin [25].
  • Autoantibodies in BP react with BP180 and BP230, two major components of the hemidesmosome, a cell structure involved in dermal-epidermal adhesion [26].
  • Together, these findings demonstrate that the early phases of myogenic differentiation occur independently of Bpag1 [27].
  • These findings suggested that stimulation of prolactin production by estrogenic effects of BPA would affect cytokine profiles, and lead to imbalanced cellular immune response [21].

Analytical, diagnostic and therapeutic context of Dst

  • Functional defects in these cell types could account for the dystonic symptoms of dt mice not explained by simple sensory denervation [4].
  • To determine the impact of the known and unknown mutations on transcript levels, RT-PCR was performed to detect various coding regions of the dystonin/Bpag1 transcripts in brain and muscle from multiple dt alleles: dt(Tg4), dt(Alb), dt(24J), dt(27J), and dt(Frk) [28].
  • We have examined expression of mouse Macf2, encoding macrophin-2, in adult tissues and in the developing, neonatal, and mature inner ear by in situ hybridization [29].
  • Northern blot analysis identified three large tissue-specific Macf2 transcripts: a 16-kb mRNA in skeletal muscle and heart, a 15-kb mRNA in brain, and a 9-kb mRNA in RNA from ovary plus uterus [29].
  • Analysis of antigens recognized by autoantibodies in herpes gestationis. Usefulness of immunoblotting using a fusion protein representing an extracellular domain of the 180 kD bullous pemphigoid antigen [30].


  1. Chromosomal localization of mouse bullous pemphigoid antigens. BPAG1 and BPAG2: identification of a new region of homology between mouse and human chromosomes. Copeland, N.G., Gilbert, D.J., Li, K., Sawamura, D., Giudice, G.J., Chu, M.L., Jenkins, N.A., Uitto, J. Genomics (1993) [Pubmed]
  2. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Brown, A., Bernier, G., Mathieu, M., Rossant, J., Kothary, R. Nat. Genet. (1995) [Pubmed]
  3. Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice. Dowling, J., Yang, Y., Wollmann, R., Reichardt, L.F., Fuchs, E. Dev. Biol. (1997) [Pubmed]
  4. Dystonin expression in the developing nervous system predominates in the neurons that degenerate in dystonia musculorum mutant mice. Bernier, G., Brown, A., Dalpé, G., De Repentigny, Y., Mathieu, M., Kothary, R. Mol. Cell. Neurosci. (1995) [Pubmed]
  5. Exploration and motor coordination in dystonia musculorum mutant mice. Lalonde, R., Joyal, C.C., Botez, M.I. Physiol. Behav. (1994) [Pubmed]
  6. Integrators of the cytoskeleton that stabilize microtubules. Yang, Y., Bauer, C., Strasser, G., Wollman, R., Julien, J.P., Fuchs, E. Cell (1999) [Pubmed]
  7. An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Yang, Y., Dowling, J., Yu, Q.C., Kouklis, P., Cleveland, D.W., Fuchs, E. Cell (1996) [Pubmed]
  8. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Guo, L., Degenstein, L., Dowling, J., Yu, Q.C., Wollmann, R., Perman, B., Fuchs, E. Cell (1995) [Pubmed]
  9. Immunochemical characterization of three components of the hemidesmosome and their expression in cultured epithelial cells. Klatte, D.H., Kurpakus, M.A., Grelling, K.A., Jones, J.C. J. Cell Biol. (1989) [Pubmed]
  10. Redistribution of the hemidesmosome components alpha 6 beta 4 integrin and bullous pemphigoid antigens during epithelial wound healing. Gipson, I.K., Spurr-Michaud, S., Tisdale, A., Elwell, J., Stepp, M.A. Exp. Cell Res. (1993) [Pubmed]
  11. Biodistribution of boron concentration on melanoma-bearing hamsters after administration of p-, m-, o-boronophenylalanine. Hiratsuka, J., Yoshino, K., Kondoh, H., Imajo, Y., Mishima, Y. Jpn. J. Cancer Res. (2000) [Pubmed]
  12. The BPAG1 locus: Alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles. Leung, C.L., Zheng, M., Prater, S.M., Liem, R.K. J. Cell Biol. (2001) [Pubmed]
  13. Cytogenetic characterization of radiosensitive mouse mutants. van Buul, P.P., Tuinenburg-Bol Raap, A., Goudzwaard, H.J., Seelen, C.M., Beechey, C.V., Natarajan, A.T., Searle, A.G. Mutat. Res. (1991) [Pubmed]
  14. A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Kothary, R., Clapoff, S., Brown, A., Campbell, R., Peterson, A., Rossant, J. Nature (1988) [Pubmed]
  15. An intrinsic neuronal defect operates in dystonia musculorum: a study of dt/dt<==>+/+ chimeras. Campbell, R.M., Peterson, A.C. Neuron (1992) [Pubmed]
  16. The intermediate filament protein peripherin is the specific interaction partner of mouse BPAG1-n (dystonin) in neurons. Leung, C.L., Sun, D., Liem, R.K. J. Cell Biol. (1999) [Pubmed]
  17. Localization of antigens associated with adherens junctions, desmosomes, and hemidesmosomes during murine molar morphogenesis. Fausser, J.L., Schlepp, O., Aberdam, D., Meneguzzi, G., Ruch, J.V., Lesot, H. Differentiation (1998) [Pubmed]
  18. Distribution of dopamine transporters in basal ganglia of cerebellar ataxic mice by [125I]RTI-121 quantitative autoradiography. Strazielle, C., Lalonde, R., Amdiss, F., Botez, M.I., Hébert, C., Reader, T.A. Neurochem. Int. (1998) [Pubmed]
  19. Trehalose conserves expression of bullous pemphigoid antigen 180 during desiccation and freezing. Schmidt, E., Kromminga, A., Kürschner, M., Zimmermann, H., Katsen, A.D., Bröcker, E.B., Zillikens, D., Zimmermann, U., Sukhorukov, V.L. J. Immunol. Methods (2003) [Pubmed]
  20. Glycoconjugate expression during early mouse oculogenesis. Buse, E., Seifert, H. Histochem. J. (1998) [Pubmed]
  21. Evaluation of the immune response following exposure of mice to bisphenol A: induction of Th1 cytokine and prolactin by BPA exposure in the mouse spleen cells. Youn, J.Y., Park, H.Y., Lee, J.W., Jung, I.O., Choi, K.H., Kim, K., Cho, K.H. Arch. Pharm. Res. (2002) [Pubmed]
  22. Cloning and characterization of mouse ACF7, a novel member of the dystonin subfamily of actin binding proteins. Bernier, G., Mathieu, M., De Repentigny, Y., Vidal, S.M., Kothary, R. Genomics (1996) [Pubmed]
  23. Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes. Stepp, M.A., Spurr-Michaud, S., Tisdale, A., Elwell, J., Gipson, I.K. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  24. An induction gene trap for identifying a homeoprotein-regulated locus. Mainguy, G., Montesinos, M.L., Lesaffre, B., Zevnik, B., Karasawa, M., Kothary, R., Wurst, W., Prochiantz, A., Volovitch, M. Nat. Biotechnol. (2000) [Pubmed]
  25. Acf7 (MACF) is an actin and microtubule linker protein whose expression predominates in neural, muscle, and lung development. Bernier, G., Pool, M., Kilcup, M., Alfoldi, J., De Repentigny, Y., Kothary, R. Dev. Dyn. (2000) [Pubmed]
  26. The desmosome and hemidesmosome in cutaneous autoimmunity. Lin, M.S., Mascaró, J.M., Liu, Z., España, A., Diaz, L.A. Clin. Exp. Immunol. (1997) [Pubmed]
  27. Differentiation potential of primary myogenic cells derived from skeletal muscle of dystonia musculorum mice. Boudreau-Larivière, C., Kothary, R. Differentiation (2002) [Pubmed]
  28. Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression. Pool, M., Boudreau Larivière, C., Bernier, G., Young, K.G., Kothary, R. Mamm. Genome (2005) [Pubmed]
  29. Expression of the mouse Macf2 gene during inner ear development. Leonova, E.V., Lomax, M.I. Brain Res. Mol. Brain Res. (2002) [Pubmed]
  30. Analysis of antigens recognized by autoantibodies in herpes gestationis. Usefulness of immunoblotting using a fusion protein representing an extracellular domain of the 180 kD bullous pemphigoid antigen. Murakami, H., Amagai, M., Higashiyama, M., Hashimoto, K., Chorzelski, T.P., Bhogal, B.S., Jenkins, R.E., Black, M.M., Zillikens, D., Nishikawa, T., Hashimoto, T. J. Dermatol. Sci. (1996) [Pubmed]
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