Alternative polyadenylation mapped across 2 million cells in 379 human brains
The study assembled a single‑cell atlas of alternative polyadenylation (APA) from 2 million cells taken from 379 postmortem aged human brains, both with and without Alzheimer's disease. Genes that show APA alterations in Alzheimer’s differ from those that change expression, yet many still point to shared pathways such as microglial activation. Whole‑genome sequencing linked APA variation to 3' UTR quantitative trait loci affecting 4,288 genes. When the authors examined 17 brain traits and diseases, they identified 168 GWAS loci that rely on these variants, of which only 17.5% overlap with eQTLs. SNCA appears among the implicated loci.
Geneticists studying Alzheimer's gain a cell‑type map of risk loci that expression data alone missed. Researchers focused on Parkinson's disease and schizophrenia also benefit, as the data derive from postmortem brains.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].