DSCR1Down Syndrome Candidate Region 1
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In the first component, DSCR1, 8, 10, BACE2, ERG and RUNK1 genes were grouped, while in the second component DSCR4 and ETS2 genes were included.
The 1.5-fold increase in dosage of DSCR1 and DYRK1A cooperatively destabilizes a regulatory circuit, leading to reduced NFATc activity and many of the features of Down's sindrome.
DSCR1 interacts with FMRP and is required for spine morphogenesis and local protein synthesis.
Kingsbury et al., "DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways," Human Molecular Genetics, vol.
Huch et al., "RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration," Human Molecular Genetics, vol.
Down's syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1. Nature 2009;459: 1126-30.
Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene.
The DSCR1 (Adapt78) isoform 1 protein calcipressin 1 inhibits calcineurin and protects against acute calcium-mediated stress damage, including transient oxidative stress.
The researchers showed that DSCR1 acts by suppressing signalling by the angiogenesis-promoting protein vascular endothelial growth factor (VEGF).
With an extra copy of Dscr1, the cells, which make up blood vessel walls showed a decreased growth response to VEGF in mouse model.
Mutational analyses of the signals involved in the subcellular location of DSCR1. BMC Cell Biol., vol.
Gene Functional categories * Reference DSCAM Adhesion molecules Saito et al., 2000 HMG14 Chromatin structure Epstein, 2001 DSCR1 Miscellaneous Fuentes et al., 2000 PKNOX1 Transcription factors Sanchez-Font et al., 2003 APP Miscellaneous Epstein, 2001 BACH1 Transcription factors Ferrando-Miguel et al., 2003a DYRK1A Kinases Dowjat et al., 2007 S100[beta] Miscellaneous Epstein, 2001 ERG Transcription factors Shim et al., 2003 ETS2 Transcription factors Wolvetang et al., 2003 SOD-1 Oxygen metabolism Gulesserian et al., 2001 IFNAR2 Receptors Ferrando-Miguel et al., 2003b BACE-2 Proteases Barbiero et al., 2003 SYNJ1 Phosphatases Arai et al., 2002 * functional categories were assigned as described previously (Gardiner and Davisson, 2000).