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| Name |
Speck, Nancy A. |
| Location
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University of Pennsylvania |
| Primary Field
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Medical Genetics, Hematology and Oncology |
 Election Citation
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Speck's current research focuses on hematopoietic stem cell formation in the embryo, and how inherited mutations in RUNX1 predispose individuals to leukemia.
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Research Interests
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Nancy Speck determined that the disease specificity of a mouse retrovirus was most strongly influenced by a single transcription factor-binding site named ""core."" She purified a core-binding factor (CBF) from calf thymus, cloned the genes encoding its subunits, and showed that CBF consists of DNA-binding (RUNX1) and non-DNA binding (CBFbetha) subunits. The genes encoding RUNX1 and CBFbetha were contemporaneously cloned by other laboratories from the breakpoints of the t(8;21) and inv(16) in acute myelogenous leukemia; Speck's biochemical studies established that the genes disrupted on chromosomes 21 and 16 encoded two subunits of a single transcription factor.
Speck determined that RUNX1 and CBFbetha were obligate partners in vivo, and were required for the formation of definitive blood cells, including hematopoietic stem cells, in the embryo. She discovered that RUNX1 expression marks a small population of endothelial cells in the embryo called ""hemogenic endothelium,"" and that blood cell formation from hemogenic endothelium was absolutely dependent on RUNX1. The existence of hemogenic endothelium was not widely accepted at that time; Speck's identification of a transcription factor specifically expressed in hemogenic endothelium, and required for blood cell formation from hemogenic endothelium, were important for establishing this concept. Her current research focuses on hematopoietic stem cell formation in the embryo, and how inherited mutations in RUNX1 predispose individuals to leukemia. |
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