Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain - PubMed
6 hours ago
- #RNA editing
- #Trisomy 21
- #Neurodevelopment
- Trisomy 21 (T21) leads to widespread gene expression dysregulation in fetal cortical and hippocampal tissues, especially affecting chromosome 21 genes and neurodevelopmental, synaptic, and immune pathways.
- ADARB1, an RNA editing enzyme on chromosome 21, is overexpressed in T21, resulting in increased adenosine-to-inosine RNA editing at key sites in genes like GRIK2, GRIA2, GRIA3, and GABRA3.
- Meta-analyses confirm chromosome 21 dosage effects, including ADARB1 overexpression and over-editing at 3'UTRs and GRIA3, linking dysregulated RNA editing to fetal neuropathology in T21.