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.

Source: The American Journal of Human Genetics - January 16, 2024 Category: Genetics & Stem Cells Authors: Brianne B. Rogers, Ashlyn G. Anderson, Shelby N. Lauzon, M. Natalie Davis, Rebecca M. Hauser, Sydney C. Roberts, Ivan Rodriguez-Nunez, Katie Trausch-Lowther, Erin A. Barinaga, Paige I. Hall, Matthew T. Knuesel, Jared W. Taylor, Mark Mackiewicz, Brian S. R Tags: Article Source Type: research