Gene Section Review Atlas Genet Cytogenet Oncol Haematol. 2009; 13(2) 120 Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS CSF1R (colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog) John Adams Fischer, Stefano Rossetti, Nicoletta Sacchi Roswell Park Cancer Institute, Department of Cancer Biology, Elm and Carlton Streets, Buffalo, NY 14263, USA (JAF, SR, NS) Published in Atlas Database: April 2008 Online updated version: http://AtlasGeneticsOncology.org/Genes/CSF1RID40161ch5q32.html DOI: 10.4267/2042/44403 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Other names: C-FMS; CD115; CSF-1-R; CSFR; EC 2.7.10.1; FIM2; FMS; c-fms HGNC (Hugo): CSF1R Location: 5q32 Local order: The human CSF1R gene is located at the distal end of the q arm of chromosome 5 with telomere to centromere orientation. Proximal flanking genes include CSF2 (GM-CSF) and IL-3 at 5q31.1. Distal flanking genes include PDGFRB at 5q31-q32. Note CSF1R (C-FMS) is the human cellular homologue of the retroviral oncogene v-fms. The v-fms oncogene, first identified and isolated by Heisterkamp et al. in 1983, is transduced by the feline sarcoma virus Susan McDonough (SM) and HZ-5 strains, which cause fibrosarcomas in domestic cats. The v-fms oncogene is equivalent to the c-fms gene in its sequence, but has undergone genetic alterations, which constitutively activate the receptor kinase in the absence of its ligand, the colony stimulating factor-1 (CSF1). Infection of mammalian cells with v-fms leads to cell transformation in vitro and in vivo. DNA/RNA Note The presence of an anti-sense CSF1R transcript starting within the FIRE region has been reported in mouse macrophages and B cells. Description The human CSF1R gene, on the minus strand, spans a region of 60,077 bases (Start: 149,413,051 bp from pter; End: 149,473,128 bp from pter) interrupted by introns ranging from 26kb for intron 1, to a range between 6.3kb to less than 0.1 kb for the other introns. The human CSF1R gene is composed of a total of 22 exons, of which the first exon is non-coding and where the remaining 21 exons (starting with exon 2) encode for the CSF1R protein. The human CSF1R and mouse Csf1r genomic structures are highly conserved. Transcription The 5' end of the human CSF1R gene has 2 alternative transcription start site regions, preceded by two alternative promoters. The transcription of CSF1R mRNA can be initiated at the two independent start sites in a tissue specific manner. The transcription of exon 1 through exon 22 occurs only in placental trophoblasts, and is driven by a trophoblast-specific promoter approximately 20kb upstream of the first exon. The transcript produced is predicted to be approximately 4kb long. In macrophages and a few other tissues (see expression section) transcription of CSF1R occurs only from exon 2 through exon 22 producing a transcript predicted to be approximately 3.9kb in length, which is translated into the CSF1R protein.