Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements
This study uses functional genomics approaches to assess candidate cis-regulatory elements (cCREs) for MAPT in neurons. The study suggests that impactful rare non-coding variants in MAPT cCREs (hypothesized to result in lower tau expression) may be protective against neurodegeneration, emphasizing the potential importance of rare non-coding variants in disease risk.