It has been nearly a decade since AML1 was first identified as the DNA-binding protein PEBP2αB/CBFA2 in mice. Molecular, genetic and biochemical studies have converged to reveal new information about how this unique family of transcription factors functions, and the linkage between developmental processes and human disease.
This is a preview of subscription content, access via your institution
Subscribe to this journal
Receive 12 print issues and online access
$189.00 per year
only $15.75 per issue
Rent or buy this article
Get just this article for as long as you need it
Prices may be subject to local taxes which are calculated during checkout
Look, A.T. Oncogenic transcription factors in the human acute leukemias. Science 278, 1059–1064 (1997).
Song, W.J. et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nature Genet. 23, 166–174 (1999).
Osato, M. et al. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2αB gene associated with myeloblastic leukemias. Blood 93, 1817–1824. (1999).
Rodan, G.A. & Harada, S-I. The missing bone. Cell 89, 6777–680 (1997).
Lee, B. et al. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nature Genet. 16, 307–310 (1997).
Mundlos, S. et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89, 773–779 (1997).
Zhang, Y-W. et al. PEBP2αA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. Gene (in the press).
Nagata, T. et al. Immunoglobulin motif DNA recognition and heterodimerization of the PEBP2/CBF Runt domain. Nature Struct. Biol. 6, 615–619 (1999).
Goger, M. et al. Molecular insights into PEBP2/CBFβ-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBFβ Nature Struct. Biol. 6, 620–623 (1999).
Huang, X. et al. Solution structure of CBFβ and a map of the CBFα binding site. Nature Struct. Biol. 6, 624–627 (1999).
Berardi, M.J. et al. The Ig fold of the core binding factor α Runt domain is a member of a family of structurally and functionally related Ig-fold DNA-binding domains. Structure 7, 1247–137 (1999).
Wang, Q. et al. Disruption of the CBFA2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc. Natl. Acad. Sci. USA 93, 3444–3449 (1996).
Okuda, T. et al. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 84, 321–330 (1996).
Hanai, J. et al. Interaction and functional cooperation of PEBP2/CBF with Smads. J. Biol. Chem. 274, 31577–31582 (1999).
Knudson, A.G. Jr. Mutation and cancer: statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA 68, 820–823 (1971).
Fero, M.L. et al. The murine gene p27Kip1 is haplo-insufficient for tumour suppression. Nature 396, 177–180 (1998).
Rights and permissions
About this article
Cite this article
Werner, M., Shigesada, K. & Ito, Y. Runt domains take the lead in hematopoiesis and osteogenesis. Nat Med 5, 1356–1357 (1999). https://doi.org/10.1038/70920