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FLASH GENE
Symbol DAG1 contributors: mct/shn - updated : 12/01/2013
HGNC name dystroglycan 1 (dystrophin-associated glycoprotein 1)
HGNC id 2666
ASSOCIATED DISORDERS
corresponding disease(s) SCARMD4 , DEL3P21
Susceptibility
Variant & Polymorphism
Candidate gene
  • defect of dystroglycan glycosylation may be a factor in cancer progression (de Bernabé 2009)
  • candidate gene for the site of mutation in autosomal recessive muscular dystrophies
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Heterozygous Dag1neo2 mice are viable and fertile but homozygous Dag1neo2 embryos exhibit gross developmental abnormalities beginning around 6.5 days of gestation that is due to a disruption of Reichert's membrane
  • chimaeric mice generated with ES cells targeted for both dystroglycan alleles have skeletal muscles essentially devoid of dystroglycans and develop a progressive muscle pathology with many disrupted neuromuscular junctions
  • brain-selective deletion of dystroglycan in mice is sufficient to cause congenital muscular dystrophie-like brain malformations, including disarray of cerebral cortical layering, fusion of cerebral hemispheres and cerebellar folia, and aberrant migration of granule cells
  • striated muscle-specific disruption of the mouse Dag1 gene results in loss of the dystrophin-glycoprotein complex in differentiated muscle and a remarkably mild muscular dystrophy with hypertrophy and without tissue fibrosis
  • mouse harboring the Dag1 Thr192Met mutation display muscular dystrophy and cognitive impairment
  • Dg morpholino knockdown leads to disruption of epidermal differentiation by affecting the intercalation of multiciliated cells, deposition of laminin, and organization of fibronectin in the extracellular matrix
  • disruption of dystroglycan-Laminin interactions result in decreased filopodial number and length, decreased process length, and decreased numbers of primary and secondary processes