Topic: chromosome 21

Down syndrome (DS) individuals are characterized by a variety of pathological phenotypes that manifest with wide variability in different tissues. In the central nervous system, the accelerated aging phenotype is associated with the risk of developing Alzheimer-like dementia. A central aspect of neurodegeneration is the close association between metabolic disorders and cognitive decline. Multiple studies have suggested a link between metabolic disorder and microRNAs (miR), small non-coding RNAs acting as post-transcriptional regulators of a plethora of genes. Among triplicated miRNAs on chromo

Down syndrome is a common neurodevelopmental condition and major genetic cause of intellectual disability. Although trisomy of chromosome 21 is long known as underlying cause, it is not well understood how the increased dosage of over 300 genes on chromosome 21 perturbs transcriptional and epigenetic programmes underlying neural differentiation, and effective therapies are lacking. Mouse models have suggested potential underlying mechanisms, but it is unclear to what extent these are recapitulated in the human brain.Here, we use single cell transcriptomics and epigenomics to generate an atlas