Ontology highlight
ABSTRACT:
SUBMITTER: Emperle M
PROVIDER: S-EPMC5887309 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Emperle Max M Rajavelu Arumugam A Kunert Stefan S Arimondo Paola B PB Reinhardt Richard R Jurkowska Renata Z RZ Jeltsch Albert A
Nucleic acids research 20180401 6
The DNMT3A R882H mutation is frequently observed in acute myeloid leukemia (AML). It is located in the subunit and DNA binding interface of DNMT3A and has been reported to cause a reduction in activity and dominant negative effects. We investigated the mechanistic consequences of the R882H mutation on DNMT3A showing a roughly 40% reduction in overall DNA methylation activity. Biochemical assays demonstrated that R882H does not change DNA binding affinity, protein stability or subnuclear distribu ...[more]