title: In vivo analysis of the molecular genetics of acute promyelocytic leukemia.
abstract: Acute promyelocytic leukemia (APL) is a distinct and paradigmatic subtype of myeloid leukemia associated with reciprocal chromosomal translocations always involving the Retinoic Acid Receptor(alpha) (RARalpha) gene on chromosome 17 and variable partner genes (X genes) on different chromosomes. As a consequence of these translocations X-RARalpha and RARalpha-X fusion genes are generated. RARalpha fuses to the PML gene in the vast majority of APL cases, and in a few cases to the PLZF, NPM, NuMA and STAT5b genes respectively. In the last few years, the functions of these aberrant fusion proteins and of the normal gene products involved in these translocations have been extensively characterized in vivo in transgenic and KO animal models. Here we will review the important conclusions, the novel questions and paradoxes that stem from this analysis.
authors.affiliation: Molecular Biology Program, Department of Pathology, Memorial Sloan-Kettering Cancer Center, Sloan-Kettering Division, Graduate School of Medical Sciences, Cornell University, 1275 York Avenue, New York, NY 10021, USA. p-pandolfi@ski.mskcc.org
authors.forename: P P
authors.initials: PP
authors.lastname: Pandolfi
mesh_terms: D000818:Animals; D002886:Chromosomes, Human, Pair 17; D002986:Clinical Trials as Topic; D004195:Disease Models, Animal; D006801:Humans; D007938:Leukemia / Q000209:etiology; D015473:Leukemia, Promyelocytic, Acute / Q000209:etiology* / Q000235:genetics*; D051379:Mice; D008957:Models, Genetic; D015514:Oncogene Proteins, Fusion / Q000378:metabolism; D011485:Protein Binding; D018168:Receptors, Retinoic Acid / Q000737:chemistry / Q000378:metabolism; D000072482:Retinoic Acid Receptor alpha; D014158:Transcription, Genetic; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: D015514:Oncogene Proteins, Fusion; C000607071:RARA protein, human; C000607072:Rara protein, mouse; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha