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ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression
Open accessAbstract
Summary Recurrent somatic ASXL1 mutations occur in patients with myelodysplasia (MDS), myeloproliferative neoplasms (MPN), and acute myeloid leukemia (AML), and are associated with adverse outcome. Despite the genetic and clinical data implicating ASXL1 mutations in myeloid malignancies, the mechanisms of transformation by ASXL1 mutations are not understood. Here we identify that ASXL1 mutations result in loss of PRC2-mediated histone H3 lysine 27 (H3K27) tri-methylation. Through integration of microarray data with genome-wide histone modification ChIP-Seq data we identify targets of ASXL1 repression including the posterior HOXA cluster that is known to contribute to myeloid transformation. We demonstrate that ASXL1 associates with the Polycomb repressive complex 2 (PRC2), and that loss of ASXL1 in vivo collaborates with NRASG12D to promote myeloid leukemogenesis.
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“Similar to the effect of aforementioned EZH2 mutations, ASXL1-loss results in compromised function of PCR2, with ensuing loss of the transcriptionally repressive H3K27 trimethylation, leading to up-regulation of HOXA genes (Abdel-Wahab et al., 2012).”
BackgroundPolycomb repressive complexes in hematological malignancies
Iwama, A. (2017) · Blood · doi:10.1182/blood-2017-02-739490 · Cited by 55
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Metadata
- Authors
- Abdel-Wahab, O., Adli, M., LaFave, L. M., Gao, J., Hricik, T., Shih, A. H., Pandey, S., Patel, J. P., Chung, Y. R., Koche, R., Perna, F., Zhao, X., Taylor, J. E., Park, C. Y., Carroll, M., Melnick, A., Nimer, S. D., Jaffe, J. D., Aifantis, I., Bernstein, B. E., & Levine, R. L.
- Venue
- Cancer Cell
- Publisher
- Elsevier BV
- Published
- 2012-08
- Volume
- 22
- Issue
- 2
- Pages
- 180-193
- ISSN
- 1535-6108 (ISSN-L)
- OpenAlex
- W1992320498
- Cited by
- 599
- References
- 11
- FWCI
- 31.31
- Type
- journal article
- Language
- en
- Open access
- bronze
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