Localization of the human G-CSF gene to the region of a breakpoint in the translocation typical of acute promyelocytic leukemia.
The colony-stimulating factors regulate growth, differentiation, and function of blood cells. The effect of granulocyte colony-stimulating factor (G-CSF) on myeloid leukemias is unique among colony-stimulating factors in driving the leukemic cells from a self-renewing malignant state to a mature differentiated phenotype with the concomitant loss of tumorigenicity. This property of G-CSF has led to suggestions that its absence is responsible for lack of differentiation of leukemic cells and that the therapeutic administration of G-CSF could reverse this defect and result in a cure for leukemia. Here we show that the gene coding for human G-CSF is localized to chromosome 17, bands q11.2-21. The translocation of the long arm of chromosome 17 at q12-21 to chromosome 15 is a specific abnormality occurring in a high proportion of, if not all, patients with acute promyelocytic leukemia, a disease characterized by undifferentiated myeloid cells and a dismal prognosis. Abnormalities of the regulation of a specific differentiation factor gene mediated by a specific chromosomal rearrangement may be directly implicated in the pathogenesis of human leukemia.
D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003115:Colony-Stimulating Factors / Q000235:genetics*; D016179:Granulocyte Colony-Stimulating Factor; D006098:Granulocytes; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D014178:Translocation, Genetic
D003115:Colony-Stimulating Factors; D016179:Granulocyte Colony-Stimulating Factor