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AML1-FOG2 fusion protein in myelodysplasia.

Authors: Chan, EM  Comer, EM  Brown, FC  Richkind, KE  Holmes, ML  Chong, BH  Shiffman, R  Zhang, DE  Slovak, ML  Willman, CL  Noguchi, CT  Li, Y  Heiber, DJ  Kwan, L  Chan, RJ  Vance, GH  Ramsey, HC  Hromas, RA 
Citation: Chan EM, etal., Blood. 2005 Jun 1;105(11):4523-6. Epub 2005 Feb 10.
Pubmed: (View Article at PubMed) PMID:15705784
DOI: Full-text: DOI:10.1182/blood-2004-07-2762

Core binding factor (CBF) participates in specification of the hematopoietic stem cell and functions as a critical regulator of hematopoiesis. Translocation or point mutation of acute myeloid leukemia 1 (AML1)/RUNX1, which encodes the DNA-binding subunit of CBF, plays a central role in the pathogenesis of acute myeloid leukemia and myelodysplasia. We characterized the t(X;21)(p22.3;q22.1) in a patient with myelodysplasia that fuses AML1 in-frame to the novel partner gene FOG2/ZFPM2. The reciprocal gene fusions AML1-FOG2 and FOG2-AML1 are both expressed. AML1-FOG2, which fuses the DNA-binding domain of AML1 to most of FOG2, represses the transcriptional activity of both CBF and GATA1. AML1-FOG2 retains a motif that recruits the corepressor C-terminal binding protein (CtBP) and these proteins associate in a protein complex. These results suggest a central role for CtBP in AML1-FOG2 transcriptional repression and implicate coordinated disruption of the AML1 and GATAdevelopmental programs in the pathogenesis of myelodysplasia.

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CRRD Object Information
CRRD ID: 1580640
Created: 2006-08-18
Species: All species
Last Modified: 2006-08-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.