Article
The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers.
Cancer cell - 14 Apr 2014
Russler-Germain David A, Spencer David H, Young Margaret A, Lamprecht Tamara L, Miller Christopher A, Fulton Robert, Meyer Matthew R, Erdmann-Gilmore Petra, Townsend R Reid, Wilson Richard K, Ley Timothy J
Abstract excerpt
Somatic mutations in DNMT3A, which encodes a de novo DNA methyltransferase, are found in ∼30% of normal karyotype acute myeloid leukemia (AML) cases. Most mutations are heterozygous and alter R882 within the catalytic domain (most commonly R882H), suggesting the possibility of dominant-negative c...
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