A Denisovan-derived Alu insertion in OCA2 contributes to pigmentation diversity in present-day Melanesians
Kwondo Kim, Aaron Pfennig, Sabriya A. Syed, Nicholas L. Moskwa, Nélio Alessandro de Jesus Oliveira, Quynh-Mai Pham, Pille Hallast, Feyza Yilmaz, Justin A. McDonough, Heather Norton, Joshua M. Akey, Charles Lee
The paper identifies a Denisovan-derived Alu insertion in OCA2 associated with increased pigmentation in Melanesians and demonstrates its functional impact in melanocytes.
bioRxiv · Mar 18, 2026 · PreprintGenomics