Alternative titles; symbols
Other entities represented in this entry:
HGNC Approved Gene Symbol: ATF1
Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,763,459-50,821,162 (from NCBI)
cAMP-dependent transcription factor-1 (ATF1) was described by Hai et al. (1989) and Yoshimura et al. (1990).
Zucman et al. (1993) showed by fluorescence in situ hybridization that the ATF1 gene maps to 12q13.
Malignant melanoma of soft parts (MMSP), or soft tissue clear cell sarcoma, exhibits a recurrent chromosome translocation involving chromosome 22, specifically t(12;22)(q13;q12). MMSP is a rare and aggressive tumor that mainly develops in tendons and aponeuroses of patients between 15 and 35 years of age, and which may also be derived from neuroectoderm (Chung and Enzinger, 1983; Epstein et al., 1984). Zucman et al. (1993) demonstrated that the hybrid transcripts in the t(12;22) cases encoded a chimeric protein consisting of the N-terminal domain of EWS (133450) linked to the bZIP domain of ATF1. Bicolor FISH on interphase nuclei from an MMSP cell line showed that the EWS locus was split and that the proximal part of EWS was juxtaposed to the ATF1 locus.
Waters et al. (2000) found that the 5-prime part of the FUS gene (137070) was fused to the 3-prime part of the ATF1 gene in an angiomatoid fibrous histiocytoma (612160) removed from the arm of a 5.5-year-old girl.
In tumor tissue derived from a patient with angiomatoid fibrous histiocytoma, Hallor et al. (2005) identified a t(12;22)(q13;q12) translocation. RT-PCR analysis detected an EWS/ATF1 fusion gene between exons 7 and 5, respectively, that functioned as a constitutive transcriptional activator.
In a tumor tissue sample from 1 of 9 patients with angiomatoid fibrous histiocytoma, Antonescu et al. (2007) identified an EWS/ATF1 fusion gene, linking exon 7 of EWS to exon 5 of ATF1.
Antonescu, C. R., Dal Cin, P., Nafa, K., Teot, L. A., Surti, U., Fletcher, C. D., Ladanyi, M. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer 46: 1051-1060, 2007. [PubMed: 17724745] [Full Text: https://doi.org/10.1002/gcc.20491]
Chung, E. B., Enzinger, F. M. Malignant melanoma of soft parts: a reassessment of clear cell sarcoma. Am. J. Surg. Path. 7: 405-413, 1983. [PubMed: 6614306] [Full Text: https://doi.org/10.1097/00000478-198307000-00003]
Epstein, A. L., Martin, A. O., Kempson, R. Use of a newly established human cell line (SU-CCS-1) to demonstrate the relationship of clear cell sarcoma to malignant melanoma. Cancer Res. 44: 1265-1274, 1984. [PubMed: 6362860]
Hai, T., Liu, F., Coukos, W. J., Green, M. R. Transcription factor ATF cDNA clones: an extensive family of leucine zipper proteins able to selectively form DNA-binding heterodimers. Genes Dev. 3: 2083-2090, 1989. Note: Erratum: Genes Dev. 4: 682 only, 1990. [PubMed: 2516827] [Full Text: https://doi.org/10.1101/gad.3.12b.2083]
Hallor, K. H., Mertens, F., Jin, Y., Meis-Kindblom, J. M., Kindblom, L.-G., Behrendtz, M., Kalen, A., Mandahl, N., Panagopoulos, I. Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer 44: 97-102, 2005. [PubMed: 15884099] [Full Text: https://doi.org/10.1002/gcc.20201]
Waters, B. L., Panagopoulos, I., Allen, E. F. Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11. Cancer Genet. Cytogenet. 121: 109-116, 2000. [PubMed: 11063792] [Full Text: https://doi.org/10.1016/s0165-4608(00)00237-5]
Yoshimura, T., Fujisawa, J., Yoshida, M. Multiple cDNA clones encoding nuclear proteins that bind to the tax-dependent enhancer of HTLV-1: all contain a leucine zipper structure and basic amino acid domain. EMBO J. 9: 2537-2542, 1990. [PubMed: 2196176] [Full Text: https://doi.org/10.1002/j.1460-2075.1990.tb07434.x]
Zucman, J., Delattre, O., Desmaze, C., Epstein, A. L., Stenman, G., Speleman, F., Fletchers, C. D. M., Aurias, A., Thomas, G. EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. Nature Genet. 4: 341-345, 1993. [PubMed: 8401579] [Full Text: https://doi.org/10.1038/ng0893-341]