Human Genetics

, Volume 78, Issue 2, pp 134–136

Localization of the human G-CSF gene to the region of a breakpoint in the translocation typical of acute promyelocytic leukemia

  • R. N. Simmers
  • J. Smith
  • M. F. Shannon
  • G. Wong
  • A. F. Lopez
  • E. Baker
  • G. R. Sutherland
  • M. A. Vadas
Original Investigations

Summary

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.

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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • R. N. Simmers
    • 1
  • J. Smith
    • 2
  • M. F. Shannon
    • 2
  • G. Wong
    • 3
  • A. F. Lopez
    • 2
  • E. Baker
    • 1
  • G. R. Sutherland
    • 1
  • M. A. Vadas
    • 2
  1. 1.Cytogenetics UnitAdelaide Children's HospitalNorth AdelaideAustralia
  2. 2.Division of Human ImmunologyInstitute of Medical and Veterinary ScienceAdelaideAustralia
  3. 3.Genetics InstituteBostonUSA

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