The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo
Open accessAbstract
Somatic Addition of Sex Combs Like 1 (ASXL1) mutations occur in 10–30% of patients with myeloid malignancies, most commonly in myelodysplastic syndromes (MDSs), and are associated with adverse outcome. Germline ASXL1 mutations occur in patients with Bohring-Opitz syndrome. Here, we show that constitutive loss of Asxl1 results in developmental abnormalities, including anophthalmia, microcephaly, cleft palates, and mandibular malformations. In contrast, hematopoietic-specific deletion of Asxl1 results in progressive, multilineage cytopenias and dysplasia in the context of increased numbers of hematopoietic stem/progenitor cells, characteristic features of human MDS. Serial transplantation of Asxl1-null hematopoietic cells results in a lethal myeloid disorder at a shorter latency than primary Asxl1 knockout (KO) mice. Asxl1 deletion reduces hematopoietic stem cell self-renewal, which is restored by concomitant deletion of Tet2, a gene commonly co-mutated with ASXL1 in MDS patients. Moreover, compound Asxl1/Tet2 deletion results in an MDS phenotype with hastened death compared with single-gene KO mice. Asxl1 loss results in a global reduction of H3K27 trimethylation and dysregulated expression of known regulators of hematopoiesis. RNA-Seq/ChIP-Seq analyses of Asxl1 in hematopoietic cells identify a subset of differentially expressed genes as direct targets of Asxl1. These findings underscore the importance of Asxl1 in Polycomb group function, development, and hematopoiesis.
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Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia
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Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms
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Metadata
- Authors
- Abdel-Wahab, O., Gao, J., Adli, M., Dey, A., Trimarchi, T., Chung, Y. R., Kuscu, C., Hricik, T., Ndiaye-Lobry, D., LaFave, L. M., Koche, R., Shih, A. H., Guryanova, O. A., Kim, E., Li, S., Pandey, S., Shin, J. Y., Telis, L., Liu, J., Bhatt, P. K., Monette, S., Zhao, X., Mason, C. E., Park, C. Y., Bernstein, B. E., Aifantis, I., & Levine, R. L.
- Venue
- Journal of Experimental Medicine
- Publisher
- Rockefeller University Press
- Published
- 2013-11-11
- Volume
- 210
- Issue
- 12
- Pages
- 2641-2659
- ISSN
- 0022-1007 (ISSN-L)
- 1540-9538
- OpenAlex
- W2115551519
- Cited by
- 322
- References
- 14
- FWCI
- 18.56
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Abdel-Wahab, O., Gao, J., Adli, M., Dey, A., Trimarchi, T., Chung, Y. R., Kuscu, C., Hricik, T., Ndiaye-Lobry, D., LaFave, L. M., Koche, R., Shih, A. H., Guryanova, O. A., Kim, E., Li, S., Pandey, S., Shin, J. Y., Telis, L., Liu, J., . . . Levine, R. L. (2013). Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo. Journal of Experimental Medicine. https://doi.org/10.1084/jem.20131141
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
