Biology Faculty Articles
The Interleukin 3 Gene is Located on Human Chromosome 5 and is Deleted in Myeloid Leukemias with a Deletion of 5q
Proceedings of the National Academy of Sciences of the United States of America
Gene mapping, Hematopoietic growth factors, Chromosomal deletions, Malignant transformation
The gene IL-3 encodes interleukin 3, a hematopoietic colony-stimulating factor (CSF) that is capable of supporting the proliferation of a broad range of hematopoietic cell types. By using somatic cell hybrids and in situ chromosomal hybridization, we localized this gene to human chromosome 5 at bands q23-31, a chromosomal region that is frequently deleted [del(5q)] in patients with myeloid disorders. By in situ hybridization, IL-3 was found to be deleted in the 5q-chromosome of one patient with refractory anemia who had a del(5)(q15q33.3), of three patients with refractory anemia (two patients) or acute nonlymphocytic leukemia (ANLL) de novo who had a similar distal breakpoint [del(5)(q13q33.3)], and of a fifth patient, with therapy-related ANLL, who had a similar distal breakpoint in band q33 [del(5)(q14q33.3)]. Southern blot analysis of somatic cell hybrids retaining the normal or the deleted chromosome 5 from two patients with the refractory anemia 5q- syndrome indicated that IL-3 sequences were absent from the hybrids retaining the deleted chromosome 5 but not from hybrids that had a cytologically normal chromosome 5. Thus, a small segment of chromosome 5 contains IL-3, GM-CSF (the gene encoding granulocyte-macrophage-CSF), CSF-I (the gene encoding macrophage-CSF), and FMS (the human c-fms protooncogene, which encodes the CSF-1 receptor). Our findings and earlier results indicating that GM-CSF, CSF-1, and FMS were deleted in the 5q- chromosome, suggest that loss of IL-3 or of other CSF genes may play an important role in the pathogenesis of hematologic disorders associated with a del(5q).
LeBeau, MIchelle M.; Neal D. Epstein; Stephen J. O'Brien; Arthur W. Nienhuis; Yu-Chung Yang; Steven C. Clark; and Janet D. Rowley. 1987. "The Interleukin 3 Gene is Located on Human Chromosome 5 and is Deleted in Myeloid Leukemias with a Deletion of 5q." Proceedings of the National Academy of Sciences of the United States of America 84, (16): 5913-5917. https://nsuworks.nova.edu/cnso_bio_facarticles/240
US Department of Energy Contract #DE-FG02-86ER60408; Public Health Service Grant #CA16910