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The human gene encoding GM-CSF is at 5q21-q32, the chromosome region deleted in the 5q- anomaly.
Human granulocyte-macrophage colony-stimulating factor (GM-CSF) is a 22,000-dalton glycoprotein that stimulates the growth of myeloid progenitor cells and acts directly on mature neutrophils. A full-length complementary DNA clone encoding human GM-CSF was used as a probe to screen a human genomic library and isolate the gene encoding human GM-CSF. The human GM-CSF gene is approximately 2.5 kilobase pairs in length with at least three intervening sequences. The GM-CSF gene was localized by somatic cell hybrid analysis and in situ hybridization to human chromosome region 5q21-5q32, which is involved in interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. An established, human promyelocytic leukemia cell line, HL60, contains a rearranged, partially deleted GM-CSF allele and a candidate 5q- marker chromosome, indicating that the truncated GM-CSF allele may reside at the rejoining point for the interstitial deletion on the HL60 marker chromosome.[1]References
- The human gene encoding GM-CSF is at 5q21-q32, the chromosome region deleted in the 5q- anomaly. Huebner, K., Isobe, M., Croce, C.M., Golde, D.W., Kaufman, S.E., Gasson, J.C. Science (1985) [Pubmed]
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