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FLASH GENE
Symbol DYRK1A contributors: mct/pg/shn - updated : 16-12-2014
HGNC name dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
HGNC id 3091
ASSOCIATED DISORDERS
corresponding disease(s) TRI21 , DEL21QD , MRD7
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
significantly elevated in hippocampus of patients with Alzheimer
constitutional   deletion    
haploinsufficiency causative for microcephaly observed in partial monosomy 21
constitutional     --other  
DYRK1A dosage imbalance perturbs REST levels with decreased REST expression in embryonic neurons and increased expression in adult neurons
constitutional     --over  
contributes to neurofibrillary degeneration in Down syndrome more significantly than in subjects with two copies of the DYRK1A gene and sporadic Alzheimer disease)
constitutional     --over  
as in Down syndrome could lead to neurofibrillary degeneration by shifting the alternative splicing of MAPT exon 10 to an increase in the ratio of 3R-tau/4R-tau
Susceptibility
Variant & Polymorphism
Candidate gene for mental retardation in Down syndrome through deregulation of REST
Marker
Therapy target
  • normalizing Dyrk1A gene expression in the striatum of adult TgDyrk1A mice, by means of AAVshRNA, clearly reverses motor impairment
  • SystemTypeDisorderPubmed
    mental retardationtrisomy 
    DYRK1A inhibitor has been proposed as a novel drug to address learning and memory deficit in Down syndrome
    ANIMAL & CELL MODELS
  • Dyrk1A Mutant Drosophila minibrain flies have a reduction in both optic lobes and central brain, showing learning deficits and hypoactivity
  • mice overexpressing the full-length cDNA of Dyrk1A exhibit delayed cranio-caudal maturation with functional consequences in neuromotor development, altered motor skill acquisition and hyperactivity, a significant impairment in spatial learning and cognitive flexibility, hippocampal and prefrontal cortex dysfunction
  • Dyrk1A(-/-) mice have a general growth delay and die during midgestation and Dyrk1A(+/-) mice show decreased neonatal viability and a significant body size reduction from birth to adulthood
  • Dyrk1a overexpression in primary mouse cortical neurons induced severe reduction of the dendritic growth and dendritic complexity
  • increased expression of phospho-Thr(192)-RCAN1 was observed in the brains of transgenic mice overexpressing the Dyrk1A protein