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Review
. 2003 Oct;94(10):841-6.
doi: 10.1111/j.1349-7006.2003.tb01364.x.

Role of AML1/Runx1 in the pathogenesis of hematological malignancies

Mineo Kurokawa  1 , Hisamaru Hirai
Affiliations
Review

Role of AML1/Runx1 in the pathogenesis of hematological malignancies

Mineo Kurokawa et al. Cancer Sci. 2003 Oct.

Abstract

AML1/Runx1, originally identified as a gene located at the breakpoint of the t(8;21) translocation, encodes one of the two subunits forming a heterodimeric transcription factor. AML1 contains a highly evolutionally conserved domain called the Runt domain, responsible for both DNA binding and heterodimerization with the partner protein, CBFbeta. AML1 is widely expressed in all hematopoietic lineages, and regulates the expression of a variety of hematopoietic genes. Numerous studies have shown that AML is a critical regulator of hematopoietic development. In addition, AML1 and CBFbeta are frequent targets for chromosomal translocation in human leukemia. Translocations lead to the generation of fusion proteins, which play a causative role for the development of leukemia, primarily by inhibiting AML1 function. Point mutations that impair AML1 function are also associated with familial and sporadic leukemias. Loss of AML1 function is thus implicated in a number of leukemias through multiple pathogenic mechanisms. However, AML1-related translocations or haploinsufficiency of AML1 are not immediately leukemogenic in animal models, suggesting that additional genetic events are required for the development of full-blown leukemia.

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References

    1. Miyoshi H, Shimizu K, Kozu T, Maseki N, Kaneko Y, Ohki M. t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proc Natl Acad Sci USA 1991; 88: 10431–4. - PMC - PubMed
    1. Taniuchi I, Osato M, Egawa T, Sunshine MJ, Bae SC, Komori T, Ito Y, Littman DR. Differential requirements for Runx proteins in CD4 repression and epigenetic silencing during T lymphocyte development. Cell 2002; 111: 621–33. - PubMed
    1. Tanaka T, Tanaka K, Ogawa S, Kurokawa M, Mitani K, Nishida J, Shibata Y, Yazaki Y, Hirai H. An acute myeloid leukemia gene, AML1, regulates hemopoietic myeloid cell differentiation and transcriptional activation antagonistically by two alternative spliced forms. EMBO J 1995; 14: 341–50. - PMC - PubMed
    1. Perry C, Eldor A, Soreq H. Runx1/AML1 in leukemia: disrupted association with diverse protein partners. Leuk Res 2002; 26: 221–8. - PubMed
    1. Kitabayashi I, Yokoyama A, Shimizu K, Ohki M. Interaction and functional cooperation of the leukemia‐associated factors AML1 and p300 in myeloid cell differentiation. EMBO J 1998; 17: 2994–3004. - PMC - PubMed

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