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Gene Ontology Classifications
Symbol
Name
ID
Dmd
dystrophin, muscular dystrophy
MGI:94909

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Dmd. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Abmayr S et al. (2004) Characterization of ARC, apoptosis repressor interacting with CARD, in normal and dystrophin-deficient skeletal muscle. Hum Mol Genet, 13:213-21. (PubMed:14645204)
  2. Adams ME et al. (2000) Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin. J Cell Biol, 150:1385-97. (PubMed:10995443)
  3. Austin RC et al. (2002) Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion. J Biol Chem, 277:47106-13. (PubMed:12370193)
  4. Belkin AM et al. (1995) Association of aciculin with dystrophin and utrophin. J Biol Chem, 270:6328-37. (PubMed:7890770)
  5. Bellinger AM et al. (2009) Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat Med, 15:325-30. (PubMed:19198614)
  6. Brenman JE et al. (1995) Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell, 82:743-52. (PubMed:7545544)
  7. Bulfield G et al. (1984) X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci U S A, 81:1189-92. (PubMed:6583703)
  8. Cesana M et al. (2011) A long noncoding RNA controls muscle differentiation by functioning as a competing endogenous RNA. Cell, 147:358-69. (PubMed:22000014)
  9. Cisternas FA et al. (2003) Cloning and characterization of human CADPS and CADPS2, new members of the Ca(2+)-dependent activator for secretion protein family. Genomics, 81:279-91. (PubMed:12659812)
  10. Fauconnier J et al. (2010) Leaky RyR2 trigger ventricular arrhythmias in Duchenne muscular dystrophy. Proc Natl Acad Sci U S A, null:null. (PubMed:20080623)
  11. Galbiati F et al. (2001) Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities. J Biol Chem, 276:21425-33. (PubMed:11259414)
  12. Goldspink G et al. (1994) Age-related changes in collagen gene expression in the muscles of mdx dystrophic and normal mice. Neuromuscul Disord, 4:183-91. (PubMed:7919967)
  13. Hagiwara Y et al. (2000) Caveolin-3 deficiency causes muscle degeneration in mice Hum Mol Genet, 9:3047-54. (PubMed:11115849)
  14. Inanlou MR et al. (2003) Abnormal development of the diaphragm in mdx:MyoD-/-(9th) embryos leads to pulmonary hypoplasia. Int J Dev Biol, 47:363-71. (PubMed:12895031)
  15. Jellali A et al. (2002) Cellular localization of the vesicular inhibitory amino acid transporter in the mouse and human retina. J Comp Neurol, 449:76-87. (PubMed:12115694)
  16. Koenig X et al. (2011) Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart. PLoS One, 6:e20300. (PubMed:21677768)
  17. Koh TJ et al. (2004) Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions. Am J Physiol Cell Physiol, 286:C713-22. (PubMed:14627610)
  18. Kyrychenko S et al. (2013) Hierarchical accumulation of RyR post-translational modifications drives disease progression in dystrophic cardiomyopathy. Cardiovasc Res, 97:666-75. (PubMed:23263329)
  19. Lechner BE et al. (2006) Developmental regulation of biglycan expression in muscle and tendon. Muscle Nerve, 34:347-55. (PubMed:16810681)
  20. Merrick D et al. (2009) Muscular dystrophy begins early in embryonic development deriving from stem cell loss and disrupted skeletal muscle formation. Dis Model Mech, 2:374-88. (PubMed:19535499)
  21. Nico B et al. (2003) Severe alterations of endothelial and glial cells in the blood-brain barrier of dystrophic mdx mice. Glia, 42:235-51. (PubMed:12673830)
  22. Peters MF et al. (1997) Differential association of syntrophin pairs with the dystrophin complex. J Cell Biol, 138:81-93. (PubMed:9214383)
  23. Reynolds JG et al. (2008) Deregulated protein kinase A signaling and myospryn expression in muscular dystrophy. J Biol Chem, 283:8070-4. (PubMed:18252718)
  24. Sher RB et al. (2006) A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. J Biol Chem, 281:4938-48. (PubMed:16371353)
  25. Song KS et al. (1996) Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem, 271:15160-5. (PubMed:8663016)
  26. Suh JG et al. (1994) Breeding of the gad-mdx mouse: influence of genetically induced denervation on dystrophic muscle fibers. Lab Anim Sci, 44:42-6. (PubMed:8007658)
  27. Takatoh J et al. (2008) Loss of short dystrophin isoform Dp71 in olfactory ensheathing cells causes vomeronasal nerve defasciculation in mouse olfactory system. Exp Neurol, 213:36-47. (PubMed:18586242)
  28. Xu R et al. (1997) Acetylcholine receptors in innervated muscles of dystrophic mdx mice degrade as after denervation. J Neurosci, 17:8194-200. (PubMed:9334395)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory