Article
The SETD2 L1609P mutation found in leukemia disrupts methyltransferase activity and reduces histone H3K36 trimethylation.
The Journal of biological chemistry - 1 Mar 2026
Michail Christina, Berthelet Jérémy, Mechaly Ariel E, Bui Linh-Chi, Yang Haopeng, Cai Duo, Al Mahi Amira, Xie Aowei, Bisio Valeria, Sirri Valentina, Dupret Jean-Marie, Guidez Fabien, Xu Ximing, Joly Nicolas, Regad Leslie, Viguier Mireille, Deshayes Frédérique, Dulphy Nicolas, Green Michael R, Haouz Ahmed, Rodrigues Lima Fernando
Abstract excerpt
SET-domain containing protein 2 (SETD2) is the primary methyltransferase responsible for generating H3K36me3, an epigenetic mark that is essential for transcriptional regulation and chromatin integrity. SETD2 mutations are frequently observed in various cancers and tend to cluster within its catalytic SET domain. Despite the clinical relevance of SETD2 missense mutations in cancer, their biochemical and...
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