Proceedings of the National Academy of Sciences of the United States of America
The CBFA2 (AML1) gene encodes a DNA-binding subunit of the heterodimeric core-binding factor. The CBFA2 gene is disrupted by the (8;21), (3;21), and (12;21) chromosomal translocations associated with leukemias and myelodysplasias in humans. Mice lacking a CBF alpha 2 protein capable of binding DNA die between embryonic days 11.5 and 12.5 due to hemorrhaging in the central nervous system (CNS), at the nerve/CNS interfaces of cranial and spinal nerves, and in somitic/intersomitic regions along the presumptive spinal cord. Hemorrhaging is preceded by symmetric, bilateral necrosis in these regions. Definitive erythropoiesis and myelopoiesis do not occur in Cbfa2-deficient embryos, and disruption of one copy of the Cbfa2 gene significantly reduces the number of progenitors for erythroid and myeloid cells.
Wang, Qing; Stacy, Terryl; M Binder, Michael; Marin-Padilla, Miguel; Sharpe, Arlene H.; and Speck, Nancy A., "Disruption of the Cbfa2 Gene Causes Necrosis and Hemorrhaging in the Central Nervous System and Blocks Definitive Hematopoiesis." (1996). Open Dartmouth: Faculty Open Access Articles. 1609.