Wang Q, Stacy T, Binder M, Marin-Padilla M, Sharpe A H, Speck N A
Department of Biochemistry, Dartmouth Medical School, Hanover, NH 03755, USA.
Proc Natl Acad Sci U S A. 1996 Apr 16;93(8):3444-9. doi: 10.1073/pnas.93.8.3444.
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.
CBFA2（AML1）基因编码异二聚体核心结合因子的一个DNA结合亚基。CBFA2基因在人类中会因与白血病和骨髓发育异常相关的（8；21）、（3；21）和（12；21）染色体易位而被破坏。缺乏能够结合DNA的CBFα2蛋白的小鼠在胚胎第11.5天至12.5天之间死亡，原因是中枢神经系统（CNS）、颅神经和脊神经的神经/CNS界面以及沿假定脊髓的体节/体节间区域出血。在这些区域出血之前会出现对称的双侧坏死。在Cbfa2缺陷型胚胎中不会发生确定性红细胞生成和髓细胞生成，并且Cbfa2基因一个拷贝的破坏会显著减少红系和髓系细胞祖细胞的数量。
