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Download Gene Section FGA7 (Fused Gene 7 to AML1) in Oncology and Haematology
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review FGA7 (Fused Gene 7 to AML1) Fady M Mikhail, Giuseppina Nucifora 23 Francis Street, Apt 18, Boulkely, Alexandria, Egypt (FMM, GN) Published in Atlas Database: June 2004 Online updated version: http://AtlasGeneticsOncology.org/Genes/FGA7ID525.html DOI: 10.4267/2042/38101 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2004 Atlas of Genetics and Cytogenetics in Oncology and Haematology FGA7 sequence is contained within three human genomic BAC clones: RP11-104M2, RP11-153C5, and RP11-595L6. t(4;21)(q28;q22) generates two fusion transcripts due to alternative splicing of AML1. Transcript I contains AML1 exon 5 fused to FGA7, whereas transcript II contains AML1 exon 6 fused to FGA7. Identity Location: 4q28 Protein Description AML1-FGA7 fusion encodes two variant chimeric proteins, both of which consist of the N-terminus of AML1 including the RUNT domain, but differ in the inclusion of AML1 exon 6. Both predicted proteins contain an identical C-terminus derived from FGA7 that adds 27 amino acids after the AML1 breakpoint. Metaphase FISH analysis using the BAC probe RP11-104M2 labeled with FITC (green) hybridized to a normal metaphase cell confirms the chromosomal localization of the probe (gene) to 4q28. Expression DNA/RNA FGA7 is not expressed in normal hematopoietic tissue. It is expressed in skeletal muscle and ovarian tissues with a transcript size of about 11kb. Description The gene has not been fully cloned at the present time. A 476-base novel sequence fused to AML1 has been identified and sequenced as a result of the molecular cloning of the t(4;21)(q28;q22). The novel sequence maps to chromosome band 4q28. Sequence analysis did not show any significant homology with any of the known genes in the human GenBank DNA database. However the first 118-bases are identical to a part of human ovarian EST-11116119. Also, the first 196bases of the sequence show 87% homology with a mouse sequence, whereas the first 237-bases show 85% homology with a rat sequence. Based on the high degree of identity among the three species, it is very likely that the novel sequence represents a part of a novel gene, which was named FGA7. Atlas Genet Cytogenet Oncol Haematol. 2004; 8(3) Homology FGA7 shows high homology to mouse and rat sequences. Implicated in t(4;21)(q28;q22) leading to AML1-FGA7 gene fusion Disease Pediatric T-cell ALL. Prognosis Poor. Cytogenetics Associated with del(7)(q22). 223 FGA7 (Fused Gene 7 to AML1) Mikhail FM, Nucifora G Oncogenesis The predicted AML1-FGA7 chimeric proteins contain a limited number of amino acid residues fused to AML1 in a situation similar to that reported for AML1EAP fusion that is a product of t(3;21). It is possible that the expression of a constitutively shortened AML1 could compete with full-length AML1 and act as a dominant negative inhibitor of the promoters that the core binding factor (CBF) activates. Schematic representation of AML1 and AML1-FGA7 fusion transcripts. Top, diagram of AML1 shows the RUNT domain (RD) and the transactivation domain (TA) separated by exon 6. Center, the fusion of AML1 exon 6 to FGA7 results in the addition of 27 codons. The asterisks indicate the stop codon. Bottom, the alternative splice form that does not include exon 6 is shown. References Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G. A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2002 May;135(1):96-100 Mikhail FM, Coignet L, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Farahat N, Nucifora G. A novel gene, FGA7, is fused to RUNX1/AML1 in a t(4;21)(q28;q22) in a patient with Tcell acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2004 Feb;39(2):110-8 Metaphase FISH analysis using the BAC probe RP11-104M2 hybridized to the patient's metaphase shows one normal green signal on the intact chromosome 4 (dashed arrow) and two smaller green signals on der(21) (arrowhead) and on der(4) (arrow) as a result of the t(4;21)(q28;q22). Atlas Genet Cytogenet Oncol Haematol. 2004; 8(3) This article should be referenced as such: Mikhail FM, Nucifora G. FGA7 (Fused Gene 7 to AML1). Atlas Genet Cytogenet Oncol Haematol. 2004; 8(3):223-224. 224