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Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome by Smith, Amanda M. (author);LaValle, Taylor A. (author);Shinawi, Marwan (author);Ramakrishnan, Sai M. (author);Abel, Haley J. (author);Hill, Cheryl A. (author);Kirkland, Nicole M. (author);Rettig, Michael P. (author);Helton, Nichole M. (author);Heath, Sharon E. (author);Ferraro, Francesca (author);Chen, David Y. (author);Adak, Sangeeta (author);Semenkovich, Clay F. (author);Christian, Diana L. (author);Martin, Jenna R. (author);Gabel, Harrison W. (author);Miller, Christopher A. (author);Ley, Timothy J. (author) is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome about?

Germline pathogenic variants in __DNMT3A__ were recently described in patients with overgrowth, obesity, behavioral, and learning difficulties (__D____NMT3A__ Overgrowth Syndrome/DOS). Somatic mutations in the __DNMT3A__ gene are also the most common cause of clonal hematopoiesis, and can initiate acute myeloid leukemia (AML). Using whole genome bisulfite sequencing, we studied DNA methylation in peripheral blood cells of 11 DOS patients and found a focal, canonical hypomethylation phenotype, which is most severe with the dominant negative __DNMT3A__^R882H^ mutation. A germline mouse model expressing the homologous __Dnmt3a__^R878H^ mutation phenocopies most aspects of the human DOS syndrome, including the methylation phenotype and an increased incidence of spontaneous hematopoietic malignancies, suggesting that all aspects of this syndrome are caused by this mutation.

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Author

Smith, Amanda M. (author);LaValle, Taylor A. (author);Shinawi, Marwan (author);Ramakrishnan, Sai M. (author);Abel, Haley J. (author);Hill, Cheryl A. (author);Kirkland, Nicole M. (author);Rettig, Michael P. (author);Helton, Nichole M. (author);Heath, Sharon E. (author);Ferraro, Francesca (author);Chen, David Y. (author);Adak, Sangeeta (author);Semenkovich, Clay F. (author);Christian, Diana L. (author);Martin, Jenna R. (author);Gabel, Harrison W. (author);Miller, Christopher A. (author);Ley, Timothy J. (author)

Publisher

Springer Science and Business Media LLC

Published

2021

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)