Table 1. Chromosome 21 genes implicated in the pathogenesis of DS phenotypes.
DS Phenotype | Implicated Hsa21 Genes | References |
Learning and Memory | DOPEY2 | Rachidi et al., 2009[49] |
DSCAM | Yu et al., 2009[50] | |
DYRK1A | Altafaj et al., 2001[30] | |
SIM2 | Meng et al., 2006[48] | |
SYNJ1 | Voronov et al., 2008[29] | |
Neurodevelopment | PREP1 | Micali et al., 2010[59] |
TTC3 | Suizu et al., 2009[60] | |
Alzheimer's Disease | APP | Rovelet-Lecrux et al., 2006[88]; |
Sleegars et al., 2006[89]; | ||
Cabrejo et al., 2006[90]; | ||
Salehi et al., 2006[92]; | ||
Cataldo et al., 2003[97]; | ||
Jiang et al., 2009[100] | ||
DYRK1A | Ryoo et al., 2007[102]; | |
Ryoo et al., 2008[103]; | ||
Liu et al., 2008[105]; | ||
ITSN1 | Chang & Min, 2009[101] | |
RCAN1 | Chang & Min, 2009[101] | |
SYNJ1 | Voronov et al., 2008[29]; | |
Chang & Min, 2009[101] | ||
Cancer and Leukemia | ERG | Ng et al., 2009[133] |
ETS2 | Sussan et al., 2008[141] | |
RCAN1 | Baek et al., 2009[142] | |
RUNX1 | Edwards et al., 2009[136] | |
Heart Defects | Region between | Korbel et al., 2009[14] |
DSCAM-ZNF295 | Korbel et al., 2009[14] |