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.
D000740:Anemia / Q000235:genetics; D001483:Base Sequence; D002460:Cell Line; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002905:Chromosomes, Human, 4-5; D003115:Colony-Stimulating Factors / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005796:Genes; D006098:Granulocytes; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008264:Macrophages; D013577:Syndrome
D003115:Colony-Stimulating Factors; D004262:DNA Restriction Enzymes