The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation
Open accessAbstract
Point mutations in the 5' UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms of ANKRD26-associated thrombocytopenia. Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted in loss of runt-related transcription factor 1 (RUNX1) and friend leukemia integration 1 transcription factor (FLI1) binding. RUNX1 and FLI1 binding at the 5' UTR from healthy subjects led to ANKRD26 silencing during the late stages of megakaryopoiesis and blood platelet development. We showed that persistent ANKRD26 expression in isolated MKs increased signaling via the thrombopoietin/myeloproliferative leukemia virus oncogene (MPL) pathway and impaired proplatelet formation by MKs. Importantly, we demonstrated that ERK inhibition completely rescued the in vitro proplatelet formation defect. Our data identify a mechanism for development of the familial thrombocytopenia THC2 that is related to abnormal MAPK signaling.
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Citations
Cites
Differentiation-dependent interactions between RUNX-1 and FLI-1 during megakaryocyte development.
Huang, H., Yu, M., Akie, T. E., Moran, T. B., Woo, A. J., Tu, N., Waldon, Z., Lin, Y. Y., Steen, H., & Cantor, A. B. (2009) · Molecular and Cellular Biology · doi:10.1128/mcb.00090-09 · Cited by 87 · cited 1×
“RUNX1, FLI1, SCL, GATA1, and GATA2 are known coregulators of megakaryopoiesis (12, 19) that simultaneously bind promoter regions of key regulators of MK differentiation and functions (19).”
Cited by
The European Hematology Association Roadmap for European Hematology Research: a consensus document
Engert, A., Balduini, C., Brand, A., Coiffier, B., Cordonnier, C., Dohner, H., de Wit, T. D., Eichinger, S., Fibbe, W., Green, T., et al. (2016) · Haematologica · doi:10.3324/haematol.2015.136739 · Cited by 81
“By using in vitro models of megakaryopoiesis or animal models, European investigators identified the pathogenesis of several ITs and IPFDs, including congenital amegakaryocytic thrombocytopenia, disorders deriving from FLI1 or RUNX1 haploinsufficiency, and thrombocytopenia 2.(214,215) Groups from Europe contributed to…”
Metadata
- Authors
- Bluteau, D., Balduini, A., Balayn, N., Currao, M., Nurden, P., Deswarte, C., Leverger, G., Noris, P., Perrotta, S., Solary, E., Vainchenker, W., Debili, N., Favier, R., & Raslova, H.
- Venue
- Journal of Clinical Investigation
- Published
- 2014-01-16
- Volume
- 124
- Issue
- 2
- Pages
- 580-591
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2077498847
- Cited by
- 202
- References
- 1
- FWCI
- 14.08
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. https://app.cochat.ai/papers/10.1172/jci71861
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- Bluteau, D., Balduini, A., Balayn, N., Currao, M., Nurden, P., Deswarte, C., Leverger, G., Noris, P., Perrotta, S., Solary, E., Vainchenker, W., Debili, N., Favier, R., & Raslova, H. (2014). Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. Journal of Clinical Investigation. https://doi.org/10.1172/jci71861
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