Gene Symbol: Dst
Description: dystonin
Alias: 2310001O04Rik, A830042E19Rik, AW554249, BP230, BPAG1-n, Bpag, Bpag1, Macf2, athetoid, mKIAA0728, nmf203, nmf339, dystonin, BPA, bullous pemphigoid antigen 1, bullous pemphigoid antigen 1, isoforms 1/2/3/4, bullous pemphigoid antigen 1, isoforms 6/7, dystonia musculorum protein, hemidesmosomal plaque protein, microtubule actin cross-linking factor 2
Species: mouse
Products:     Dst

Top Publications

  1. Janota I. Ultrastructural studies of an hereditary sensory neuropathy in mice (dystonia musculorum). Brain. 1972;95:529-36 pubmed
  2. Bernier G, Brown A, Dalpé G, De Repentigny Y, Mathieu M, Kothary R. Dystonin expression in the developing nervous system predominates in the neurons that degenerate in dystonia musculorum mutant mice. Mol Cell Neurosci. 1995;6:509-20 pubmed
    ..The dt gene product, dystonin, contains the bullous pemphigoid antigen 1 coding region at its C-terminus and an actin binding domain at its N-terminus...
  3. Dalpé G, Mathieu M, Comtois A, Zhu E, Wasiak S, De Repentigny Y, et al. Dystonin-deficient mice exhibit an intrinsic muscle weakness and an instability of skeletal muscle cytoarchitecture. Dev Biol. 1999;210:367-80 pubmed
    ..The gene defective in dt encodes a cytoskeletal linker protein, dystonin, that is essential for maintaining neuronal cytoskeletal integrity...
  4. Young K, Pool M, Kothary R. Bpag1 localization to actin filaments and to the nucleus is regulated by its N-terminus. J Cell Sci. 2003;116:4543-55 pubmed
    Plakins are a family of giant cytoskeleton binding proteins. One member of this group is bullous pemphigoid antigen 1 (Bpag1)/dystonin, which has neuronal and muscle isoforms that consist of actin-binding and microtubule-binding domains ..
  5. Pool M, Rippstein P, McBride H, Kothary R. Trafficking of macromolecules and organelles in cultured Dystonia musculorum sensory neurons is normal. J Comp Neurol. 2006;494:549-58 pubmed
    ..The gene responsible for this disorder, dystonin/Bpag1, encodes several alternatively spliced forms of a cytoskeletal linker protein...
  6. Lalonde R, Joyal C, Cote C. Swimming activity in dystonia musculorum mutant mice. Physiol Behav. 1993;54:119-20 pubmed
    ..It is not excluded that a measure tracing their path may find a mild deviation from the goal...
  7. Young K, Kothary R. Dystonin/Bpag1--a link to what?. Cell Motil Cytoskeleton. 2007;64:897-905 pubmed
    The dystonin/Bpag1 cytoskeletal interacting proteins play important roles in maintaining cytoarchitecture integrity in skin and in the neuromuscular system...
  8. Borradori L, Sonnenberg A. Structure and function of hemidesmosomes: more than simple adhesion complexes. J Invest Dermatol. 1999;112:411-8 pubmed
  9. Jefferson J, Leung C, Liem R. Dissecting the sequence specific functions of alternative N-terminal isoforms of mouse bullous pemphigoid antigen 1. Exp Cell Res. 2006;312:2712-25 pubmed
    b>Bullous pemphigoid antigen 1 (BPAG1) is a member of the plakin family of proteins that is involved in cross-linking the cytoskeletal elements and attaching them to cell junctions...

More Information


  1. Liu J, Ding J, Kowal A, Nardine T, Allen E, Delcroix J, et al. BPAG1n4 is essential for retrograde axonal transport in sensory neurons. J Cell Biol. 2003;163:223-9 pubmed
    Disruption of the BPAG1 (bullous pemphigoid antigen 1) gene results in progressive deterioration in motor function and devastating sensory neurodegeneration in the null mice...
  2. Steiner Champliaud M, Schneider Y, Favre B, Paulhe F, Praetzel Wunder S, Faulkner G, et al. BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin. Exp Cell Res. 2010;316:297-313 pubmed publisher
    BPAG1-b is the major muscle-specific isoform encoded by the dystonin gene, which expresses various protein isoforms belonging to the plakin protein family with complex, tissue-specific expression profiles...
  4. Duchen L. Dystonia musculorum--an inherited disease of the nervous system in the mouse. Adv Neurol. 1976;14:353-65 pubmed
  5. Bernier G, Pool M, Kilcup M, Alfoldi J, De Repentigny Y, Kothary R. Acf7 (MACF) is an actin and microtubule linker protein whose expression predominates in neural, muscle, and lung development. Dev Dyn. 2000;219:216-25 pubmed
    ..proteins belonging to the plakin family of cytoskeletal linker proteins have recently been identified, including dystonin/Bpag1 and plectin...
  6. Dowling J, Yu Q, Fuchs E. Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. J Cell Biol. 1996;134:559-72 pubmed
    ..In stratified epithelia, alpha 6 beta 4 couple with BPAG1-e and BPAG2 to form hemidesmosomes, attaching externally to laminin and internally to the keratin cytoskeleton...
  7. Messer A, Strominger N. An allele of the mouse mutant dystonia musculorum exhibits lesions in red nucleus and striatum. Neuroscience. 1980;5:543-9 pubmed
  8. Yang Y, Bauer C, Strasser G, Wollman R, Julien J, Fuchs E. Integrators of the cytoskeleton that stabilize microtubules. Cell. 1999;98:229-38 pubmed
    Sensory neurodegeneration occurs in mice defective in BPAG1, a gene encoding cytoskeletal linker proteins capable of anchoring neuronal intermediate filaments to actin cytoskeleton...
  9. Leung C, Zheng M, Prater S, Liem R. The BPAG1 locus: Alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles. J Cell Biol. 2001;154:691-7 pubmed
    b>Bullous pemphigoid antigen 1 (BPAG1) is a member of the plakin family with cytoskeletal linker properties. Mutations in BPAG1 cause sensory neuron degeneration and skin fragility in mice...
  10. Liu J, Ding J, Wu C, Bhagavatula P, Cui B, Chu S, et al. Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport. Proc Natl Acad Sci U S A. 2007;104:2223-8 pubmed
    ..Deletion of retrolinkin membrane-association domains disrupts retrograde vesicular transport, recapitulating the BPAG1 null phenotype. We propose that retrolinkin acts with BPAG1n4 to specifically regulate retrograde axonal transport...
  11. Ryan S, Bhanot K, Ferrier A, De Repentigny Y, Chu A, Blais A, et al. Microtubule stability, Golgi organization, and transport flux require dystonin-a2-MAP1B interaction. J Cell Biol. 2012;196:727-42 pubmed publisher
    Loss of function of dystonin cytoskeletal linker proteins causes neurodegeneration in dystonia musculorum (dt) mutant mice...
  12. Leung C, Sun D, Liem R. The intermediate filament protein peripherin is the specific interaction partner of mouse BPAG1-n (dystonin) in neurons. J Cell Biol. 1999;144:435-46 pubmed
    ..The mutated gene product is named dystonin and is identical to the neuronal isoform of bullous pemphigoid antigen 1 (BPAG1-n)...
  13. Kothary R, Clapoff S, Brown A, Campbell R, Peterson A, Rossant J. A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Nature. 1988;335:435-7 pubmed
    ..Such constructs may serve as useful tools for identifying new tissue-specific enhancers and their associated genes. ..
  14. Bernier G, Brown A, Dalpé G, Mathieu M, De Repentigny Y, Kothary R. Dystonin transcripts are altered and their levels are reduced in the mouse neurological mutant dt24J. Biochem Cell Biol. 1995;73:605-9 pubmed
    ..We have recently cloned and identified a candidate gene for this disorder and designated it dystonin. The sequence of dystonin predicts a rod-shaped cytoskeletal-associated protein with an actin-binding domain at ..
  15. Okumura M, Yamakawa H, Ohara O, Owaribe K. Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor). J Biol Chem. 2002;277:6682-7 pubmed
    BPAG1 (bullous pemphigoid antigen 1) was originally identified as a 230-kDa hemidesmosomal protein and belongs to the plakin family, because it consists of a plakin domain, a coiled-coil rod domain and a COOH-terminal intermediate ..
  16. Bernier G, Kothary R. Prenatal onset of axonopathy in Dystonia musculorum mice. Dev Genet. 1998;22:160-8 pubmed
    ..The gene defective in dt, dystonin (Dst), encodes a cytoskeletal linker protein that forms the bridge between F-actin and intermediate filaments...
  17. De Repentigny Y, Ferrier A, Ryan S, Sato T, Kothary R. Motor unit abnormalities in Dystonia musculorum mice. PLoS ONE. 2011;6:e21093 pubmed publisher
    Dystonia musculorum (dt) is a mouse inherited sensory neuropathy caused by mutations in the dystonin gene...
  18. Amagai M, Hashimoto T, Tajima S, Inokuchi Y, Shimizu N, Saito M, et al. Partial cDNA cloning of the 230-kD mouse bullous pemphigoid antigen by use of a human monoclonal anti-basement membrane zone antibody. J Invest Dermatol. 1990;95:252-9 pubmed
    ..g., enzyme-linked immunosorbent assay using recombinant proteins or synthetic peptides as antigens, but also for pathophysiologic study in which mouse models of BP might be used. ..
  19. Boudreau Larivière C, Kothary R. Differentiation potential of primary myogenic cells derived from skeletal muscle of dystonia musculorum mice. Differentiation. 2002;70:247-56 pubmed
    ..dystonia musculorum (dt) mouse has a mutation in the gene encoding the cytoskeletal crosslinker protein bullous pemphigoid antigen 1 (Bpag1). These mice have perturbations in the cytoarchitecture of skeletal muscle...
  20. Pool M, Boudreau Larivière C, Bernier G, Young K, Kothary R. Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression. Mamm Genome. 2005;16:909-17 pubmed
    The dystonin/Bpag1 gene encodes several tissue-specific alternatively spliced transcripts that encode cytoskeletal binding proteins...
  21. De Repentigny Y, Deschenes Furry J, Jasmin B, Kothary R. Impaired fast axonal transport in neurons of the sciatic nerves from dystonia musculorum mice. J Neurochem. 2003;86:564-71 pubmed
    ..neuropathy caused by mutations in the gene encoding the cytoskeletal cross-linker protein dystonin/bullous pemphigoid antigen 1 (Bpag1)...
  22. Yang Y, Dowling J, Yu Q, Kouklis P, Cleveland D, Fuchs E. An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell. 1996;86:655-65 pubmed
    Typified by rapid degeneration of sensory neurons, dystonia musculorum mice have a defective BPAG1 gene, known to be expressed in epidermis. We report a neuronal splice form, BPAG1n, which localizes to sensory axons...
  23. Boyer J, Bhanot K, Kothary R, Boudreau Larivière C. Hearts of dystonia musculorum mice display normal morphological and histological features but show signs of cardiac stress. PLoS ONE. 2010;5:e9465 pubmed publisher
    b>Dystonin is a giant cytoskeletal protein belonging to the plakin protein family and is believed to crosslink the major filament systems in contractile cells...
  24. Eyer J, Cleveland D, Wong P, Peterson A. Pathogenesis of two axonopathies does not require axonal neurofilaments. Nature. 1998;391:584-7 pubmed
    ..By specifically excluding a necessary role for axonal neurofilaments, our observations redefine the components of the pathogenic pathway leading to axon disruption in these two degenerative diseases...
  25. Brown A, Dalpé G, Mathieu M, Kothary R. Cloning and characterization of the neural isoforms of human dystonin. Genomics. 1995;29:777-80 pubmed
    ..The product of the dt gene, dystonin, is a neural isoform of a hemidesmosomal protein bullous pemphigoid antigen 1 (bpag1)...
  26. Guo L, Degenstein L, Dowling J, Yu Q, Wollmann R, Perman B, et al. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell. 1995;81:233-43 pubmed
    b>BPAG1 is the major antigenic determinant of autoimmune sera of bullous pemphigoid (BP) patients...
  27. Bernier G, De Repentigny Y, Mathieu M, David S, Kothary R. Dystonin is an essential component of the Schwann cell cytoskeleton at the time of myelination. Development. 1998;125:2135-48 pubmed
    ..Here we show that dystonia musculorum (dt) mice, which carry mutations in dystonin, a cytoskeletal crosslinker protein, have hypo/amyelinated peripheral nerves...
  28. Young K, Kothary R. Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons. Exp Cell Res. 2008;314:2750-61 pubmed publisher
    b>Dystonin/Bpag1 proteins are cytoskeletal linkers whose loss of function in mice results in a hereditary sensory neuropathy with a progressive loss of limb coordination starting in the second week of life...
  29. Dowling J, Yang Y, Wollmann R, Reichardt L, Fuchs E. Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice. Dev Biol. 1997;187:131-42 pubmed
    Ablation of the BPAG1 gene results in the dystonia musculorum mouse, exhibiting rapid spinal nerve degeneration, dystonic movements, and severe ataxia...
  30. Young K, Pinheiro B, Kothary R. A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus. Exp Cell Res. 2006;312:121-34 pubmed
    Bpag1/dystonin proteins are giant cytoskeletal interacting proteins postulated to cross-link cytoskeletal filaments and thereby maintain cellular integrity...
  31. Lalonde R, Marchetti N, Strazielle C. Primary neurologic screening and motor coordination of Dstdt-J mutant mice (dystonia musculorum) with spinocerebellar atrophy. Physiol Behav. 2005;86:46-51 pubmed
    The autosomal recessive dystonia musculorum (Dst(dt-J)) mutation causes degenerative lesions of peripheral and central sensory pathways...
  32. Brown A, Bernier G, Mathieu M, Rossant J, Kothary R. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nat Genet. 1995;10:301-6 pubmed
    ..an N-terminal actin binding domain and a C-terminal portion comprised of the hemidesmosomal protein, bullous pemphigoid antigen 1 (bpag1)...
  33. Bhanot K, Young K, Kothary R. MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin. J Proteome Res. 2011;10:5118-27 pubmed publisher
    b>Dystonin is a large multidomain cytoskeletal-associated protein that plays an essential role in the nervous system. Loss of dystonin results in neuromuscular dysfunction and early death in a mouse mutant called dystonia musculorum...
  34. Goryunov D, Adebola A, Jefferson J, Leung C, Messer A, Liem R. Molecular characterization of the genetic lesion in Dystonia musculorum (dt-Alb) mice. Brain Res. 2007;1140:179-87 pubmed
    ..They contain mutations in the gene encoding Bullous Pemphigoid Antigen 1 (BPAG1), or dystonin. BPAG1 is a member of the plakin family of cytolinker proteins...
  35. Carlsten J, Kothary R, Wright D. Glial cell line-derived neurotrophic factor-responsive and neurotrophin-3-responsive neurons require the cytoskeletal linker protein dystonin for postnatal survival. J Comp Neurol. 2001;432:155-68 pubmed
    ..These mice have a null mutation in the cytoskeletal linker protein, dystonin. Dystonin is expressed by all sensory neurons and cross links actin filaments, intermediate filaments, and ..
  36. Ichikawa H, Terayama R, Yamaai T, De Repentigny Y, Kothary R, Sugimoto T. Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue. Brain Res. 2007;1129:142-6 pubmed
    The anterior part of the tongue was examined in wild type and dystonia musculorum mice to assess the effect of dystonin loss on fungiform papillae...
  37. Horie M, Watanabe K, Bepari A, Nashimoto J, Araki K, Sano H, et al. Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice. Eur J Neurosci. 2014;40:3458-71 pubmed publisher
    The Dystonin gene (Dst) is responsible for dystonia musculorum (dt), an inherited mouse model of hereditary neuropathy accompanied by progressive motor symptoms such as dystonia and cerebellar ataxia...
  38. Brown A, Copeland N, Gilbert D, Jenkins N, Rossant J, Kothary R. The genomic structure of an insertional mutation in the dystonia musculorum locus. Genomics. 1994;20:371-6 pubmed
    ..We report that the integration of the transgene was accompanied by a deletion of 45 kb of host genomic sequences with no other detectable rearrangement in the Tg4 genome. ..
  39. Lalonde R, Botez M, Bontemps R, Loron P. Effects of an ectodermal microceptor preparation on motor coordination in cerebellar mutant mice. Pharmacol Biochem Behav. 1994;49:777-9 pubmed
    ..These results indicate that ectodermal microceptors may improve movement initiation of cerebellar-related disorders in animals, but that these effects are test and disease-specific. ..
  40. Dalpé -, Leclerc -, Vallée -, Messer -, Mathieu -, De Repentigny Y -, et al. Dystonin Is Essential for Maintaining Neuronal Cytoskeleton Organization. Mol Cell Neurosci. 1998;10:243-57 pubmed
    ..We had shown that dystonin is a neural isoform of bullous pemphigoid antigen 1 (Bpag1) with an N-terminal actin-binding domain...
  41. Hartmann N, Martrette J, Strazielle C, Westphal A. Dystonia musculorum mutation and myosin heavy chain expression in skeletal and cardiac muscles. J Cell Biochem. 1999;74:90-8 pubmed
    ..It appears that dystonin, the dt gene product, is very important in maintaining the structural integrity of both cardiac and skeletal ..
  42. Kornfeld S, Lynch Godrei A, Bonin S, Gibeault S, De Repentigny Y, Kothary R. Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination. PLoS ONE. 2016;11:e0149201 pubmed publisher
    ..b>Dystonin is a cytoskeletal linker protein with both actin- and tubulin-binding domains...
  43. Chen H, Lin C, Lin C, Perez Olle R, Leung C, Liem R. The role of microtubule actin cross-linking factor 1 (MACF1) in the Wnt signaling pathway. Genes Dev. 2006;20:1933-45 pubmed
    ..These results suggest a new role of MACF1 in the Wnt signaling pathway. ..
  44. Campbell R, Peterson A. An intrinsic neuronal defect operates in dystonia musculorum: a study of dt/dt<==>+/+ chimeras. Neuron. 1992;9:693-703 pubmed
    ..In addition, we show here that the dt mutation leads to a disorder of neurofilament processing in which phosphorylated neurofilament epitopes accumulate inappropriately in neuronal perikarya. ..
  45. Murgia C, Blaikie P, Kim N, Dans M, Petrie H, Giancotti F. Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta4 cytoplasmic domain. EMBO J. 1998;17:3940-51 pubmed
  46. Lalonde R, Strazielle C. Spontaneous and induced mouse mutations with cerebellar dysfunctions: behavior and neurochemistry. Brain Res. 2007;1140:51-74 pubmed
    ..In addition to these signs, the Dst(dt) (dystonia musculorum) spinocerebellar mutant displays dystonic postures and crawling...
  47. Li K, Guidice G, Tamai K, Do H, Sawamura D, Diaz L, et al. Cloning of partial cDNA for mouse 180-kDa bullous pemphigoid antigen (BPAG2), a highly conserved collagenous protein of the cutaneous basement membrane zone. J Invest Dermatol. 1992;99:258-63 pubmed
  48. Lalonde R, Joyal C, Botez M. Exploration and motor coordination in dystonia musculorum mutant mice. Physiol Behav. 1994;56:277-80 pubmed
  49. Leonova E, Lomax M. Expression of the mouse Macf2 gene during inner ear development. Brain Res Mol Brain Res. 2002;105:67-78 pubmed
    ..They include desmoplakin, envoplakin, plectin, dystonin/BPAG1, and Kakapo. Mutations in plakins cause several skin, muscular and neurological disorders...
  50. Ryan S, Ferrier A, Sato T, O Meara R, De Repentigny Y, Jiang S, et al. Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function. Mol Biol Cell. 2012;23:553-66 pubmed publisher
    b>Dystonin/Bpag1 is a cytoskeletal linker protein whose loss of function in dystonia musculorum (dt) mice results in hereditary sensory neuropathy...
  51. Ichikawa H, De Repentigny Y, Kothary R, Sugimoto T. The survival of vagal and glossopharyngeal sensory neurons is dependent upon dystonin. Neuroscience. 2006;137:531-6 pubmed
    ..and their peripheral tissues were examined in wild type and dystonia musculorum mice to assess the effect of dystonin loss of function on chemoreceptive neurons...
  52. Strazielle C, Lalonde R, Amdiss F, Botez M, Hebert C, Reader T. Distribution of dopamine transporters in basal ganglia of cerebellar ataxic mice by [125I]RTI-121 quantitative autoradiography. Neurochem Int. 1998;32:61-8 pubmed
  53. Kothary R, Clapoff S, Darling S, Perry M, Moran L, Rossant J. Inducible expression of an hsp68-lacZ hybrid gene in transgenic mice. Development. 1989;105:707-14 pubmed
    ..This tightly regulated inducible promoter may provide a useful tool for short-term inducible gene expression in transgenic mice. ..
  54. Kieffer Combeau S, Meyer J, Lesot H. Cell-matrix interactions and cell-cell junctions during epithelial histo-morphogenesis in the developing mouse incisor. Int J Dev Biol. 2001;45:733-42 pubmed
    ..Apoptosis was transiently observed in the contiguous mesenchyme. This affected osteoblasts and also nerve cells close to the labial part of the cervical loop. ..
  55. Moresi V, Williams A, Meadows E, Flynn J, Potthoff M, McAnally J, et al. Myogenin and class II HDACs control neurogenic muscle atrophy by inducing E3 ubiquitin ligases. Cell. 2010;143:35-45 pubmed publisher
    ..Thus, myogenin plays a dual role as both a regulator of muscle development and an inducer of neurogenic atrophy. These findings reveal a specific pathway for muscle wasting and potential therapeutic targets for this disorder. ..
  56. Riker D, Messer A, Roth R. Increased noradrenergic metabolism in the cerebellum of the mouse mutant dystonia musculorum. J Neurochem. 1981;37:649-54 pubmed
    ..The observed changes may be a reaction to abnormal impulse traffic or altered input/output pathways to the mutant cerebellum during its development. ..
  57. Lamberti A, Sanges C, Chambery A, Migliaccio N, Rosso F, Di Maro A, et al. Analysis of interaction partners for eukaryotic translation elongation factor 1A M-domain by functional proteomics. Biochimie. 2011;93:1738-46 pubmed publisher
    ..Interestingly, a co-localization of SORBS2 and eEF1A was evidenced at level of plasma membrane, thus suggesting the involvement of eEF1A1 in novel key signal transduction complexes. ..
  58. Clement C, Lalonde R, Strazielle C. Acetylcholinesterase activity in the brain of dystonia musculorum (Dst(dt-J)) mutant mice. Neurosci Res. 2012;72:79-86 pubmed publisher
    The dystonia musculorum (Dst(dt-J)) mutant mouse suffers from severe motor coordination deficits, characterized, among various symptoms, by a spastic ataxia and dystonic movements, indicating central defects in motor structures in ..
  59. Sawamura D, Sato T, Kon A, Harada K, Nomura K, Hashimoto I, et al. Mouse 230-kDa bullous pemphigoid antigen gene: structural and functional characterization of the 5'-flanking region and interspecies conservation of the deduced amino-terminal peptide sequence of the protein. J Invest Dermatol. 1994;103:651-5 pubmed
    ..To get insight into regulation of the 230-kDa bullous pemphigoid antigen gene (BPAG1), and to evaluate evolutionary conservation of the amino-terminus of the protein, we screened a mouse genomic DNA ..
  60. Shen Q, Wang X, Chen Y, Xu L, Wang X, Lu L. Expression QTL and regulatory network analysis of microtubule-associated protein tau gene. Parkinsonism Relat Disord. 2009;15:525-31 pubmed publisher
    ..These results demonstrate that the genetical genomics approach provides a powerful tool for constructing pathways that contribute to complex traits, such as neurodegenerative disorders. ..
  61. Robb L, Brodnicki T, Copeland N, Gilbert D, Jenkins N, Harvey R. Assignment of the human helix-loop-helix transcription factor gene musculin/activated B-cell factor-1 (MSC) to chromosome 8q21 and its mouse homologue (Msc) to the proximal region of chromosome 1. Genomics. 1999;57:318-9 pubmed
  62. Brown A, Lemieux N, Rossant J, Kothary R. Human homolog of a mouse sequence from the dystonia musculorum locus is on chromosome 6p12. Mamm Genome. 1994;5:434-7 pubmed
    ..The human homolog of the mouse Bpag1 gene, a gene tightly linked to the mouse dt gene, also maps to Chr 6...
  63. Moss T. Schwann cell involvement in the neurological lesion of the dystonic mutant mouse. A nerve grafting study. J Neurol Sci. 1981;49:207-22 pubmed
    ..It is concluded that an underlying Schwann cell defect may be responsible for the abnormalities of the dystonic mouse peripheral neuropathy. ..
  64. Oommen S, Francois M, Kawasaki M, Murrell M, Kawasaki K, Porntaveetus T, et al. Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function. PLoS ONE. 2012;7:e43857 pubmed publisher
    ..Our data suggest that SOXF transcription factors play a role in regulating formation of cytoplasmic plaque protein assembly, and that disrupted SOXF function results in epidermolysis bullosa-like skin phenotypes. ..
  65. Horie M, Mekada K, Sano H, Kikkawa Y, Chiken S, Someya T, et al. Characterization of novel dystonia musculorum mutant mice: Implications for central nervous system abnormality. Neurobiol Dis. 2016;96:271-283 pubmed publisher
    ..gene was located near D1Mit373 and D1Mit410 microsatellite markers on chromosome 1, which are close to the dystonin (Dst) gene locus...