Article
Haploinsufficiency for DNA methyltransferase 3A predisposes hematopoietic cells to myeloid malignancies.
The Journal of clinical investigation - 2 Oct 2017
Cole Christopher B, Russler-Germain David A, Ketkar Shamika, Verdoni Angela M, Smith Amanda M, Bangert Celia V, Helton Nichole M, Guo Mindy, Klco Jeffery M, O'Laughlin Shelly, Fronick Catrina, Fulton Robert, Chang Gue Su, Petti Allegra A, Miller Christopher A, Ley Timothy J
Abstract excerpt
The gene that encodes de novo DNA methyltransferase 3A (DNMT3A) is frequently mutated in acute myeloid leukemia genomes. Point mutations at position R882 have been shown to cause a dominant negative loss of DNMT3A methylation activity, but 15% of DNMT3A mutations are predicted to produce truncated proteins that could either have dominant negative activities or cause loss of function and haploinsufficiency. Here,...
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