title: Increased dosage of the RUNX1/AML1 gene: a third mode of RUNX leukemia?
abstract: RUNX1/AML1, located on chromosome 21, is a key factor in the generation and maintenance of hematopoietic stem cells and the gene most frequently implicated in human leukemias. Chromosome translocations and point mutations are well-documented genetic alterations in RUNX leukemia (also known as CBF leukemia). In addition, overdosage or overexpression of RUNX1 is suspected to be a third mode of RUNX1 involvement in leukemogenesis. The possibility that this mode might underlie Down syndrome-related leukemias caused by trisomy of chromosome 21 is discussed.
authors.affiliation: Institute of Molecular and Cell Biology, Oncology Research Institute, National University of Singapore. motomi@imcb.a-star.edu.sg
authors.forename: Motomi
authors.initials: M
authors.lastname: Osato
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Ito
mesh_terms: D000818:Animals; D001402:B-Lymphocytes / Q000378:metabolism; D050976:Basic-Leucine Zipper Transcription Factors / Q000378:metabolism; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics / Q000378:metabolism; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics / Q000378:metabolism*; D004268:DNA-Binding Proteins / Q000378:metabolism; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins / Q000378:metabolism; D050982:GATA1 Transcription Factor / Q000235:genetics; D018628:Gene Dosage; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics; D008223:Lymphoma / Q000235:genetics; D051379:Mice; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D050787:Proto-Oncogene Protein c-ets-2 / Q000378:metabolism; D012190:Retroviridae / Q000235:genetics; D034061:Thrombopoiesis / Q000235:genetics; D015534:Trans-Activators / Q000378:metabolism; D000071230:Transcriptional Regulator ERG
chemical_list: C102108:BACH1 protein, human; D050976:Basic-Leucine Zipper Transcription Factors; D050659:Core Binding Factor Alpha 1 Subunit; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; C072312:ERG protein, human; C494069:ETS2 protein, human; D051856:Fanconi Anemia Complementation Group Proteins; D050982:GATA1 Transcription Factor; D050787:Proto-Oncogene Protein c-ets-2; C493728:RUNX1 protein, human; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG