Nature Communications (Jul 2021)
Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome
- Amanda M. Smith,
- Taylor A. LaValle,
- Marwan Shinawi,
- Sai M. Ramakrishnan,
- Haley J. Abel,
- Cheryl A. Hill,
- Nicole M. Kirkland,
- Michael P. Rettig,
- Nichole M. Helton,
- Sharon E. Heath,
- Francesca Ferraro,
- David Y. Chen,
- Sangeeta Adak,
- Clay F. Semenkovich,
- Diana L. Christian,
- Jenna R. Martin,
- Harrison W. Gabel,
- Christopher A. Miller,
- Timothy J. Ley
Affiliations
- Amanda M. Smith
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- Taylor A. LaValle
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- Marwan Shinawi
- Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine
- Sai M. Ramakrishnan
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- Haley J. Abel
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- Cheryl A. Hill
- Department of Pathology and Anatomical Science, University of Missouri School of Medicine
- Nicole M. Kirkland
- Department of Pathology and Anatomical Science, University of Missouri School of Medicine
- Michael P. Rettig
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- Nichole M. Helton
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- Sharon E. Heath
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- Francesca Ferraro
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- David Y. Chen
- Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine
- Sangeeta Adak
- Division of Endocrinology, Metabolism & Lipid Research, Department of Internal Medicine, Washington University School of Medicine
- Clay F. Semenkovich
- Division of Endocrinology, Metabolism & Lipid Research, Department of Internal Medicine, Washington University School of Medicine
- Diana L. Christian
- Department of Neuroscience, Washington University School of Medicine
- Jenna R. Martin
- Department of Neuroscience, Washington University School of Medicine
- Harrison W. Gabel
- Department of Neuroscience, Washington University School of Medicine
- Christopher A. Miller
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- Timothy J. Ley
- Division of Oncology, Section of Stem Cell Biology, Department of Internal Medicine, Washington University School of Medicine
- DOI
- https://doi.org/10.1038/s41467-021-24800-7
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 18
Abstract
Germline mutations in the DNMT3A gene can cause an overgrowth syndrome associated with behavioural and hematopoietic phenotypes. Here the authors describe a mouse model of this syndrome that recapitulates many of these features, including conserved alterations in DNA methylation in the blood cells of both species.
