Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism and late-onset Alzheimer’s disease

Down syndrome (DS) is caused by human chromosome 21 (HSA21) trisomy. It is characterized by a poorly understood intellectual disability (ID). We studied two mouse models of DS, one with an extra copy of the Dyrk1A gene (189N3) and the other with an extra copy of the mouse Chr16 syntenic region (Dp(16)1Yey). RNA-seq analysis of the transcripts deregulated in the embryonic hippocampus revealed an enrichment in genes associated with chromatin for the 189N3 model and synapses for the Dp(16)1Yey model We investigated the respective contributions of Dyrk1a and other HSA21 gene products to the pathways underlying ID in DS, using embryonic hippocampus (E16-E18).