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Download Gene Section AF4p12 (ALL1 fused gene from chromosome 4p12)
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review AF4p12 (ALL1 fused gene from chromosome 4p12) Sandrine Hayette Laboratoire d'Hématologie et de cytogénétique, Hôpital Ed Herriot and INSERM U590, Lyon, France Published in Atlas Database: October 2005 Online updated version: http://AtlasGeneticsOncology.org/Genes/AF4q12ID42970ch4p12.html DOI: 10.4267/2042/38286 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2006 Atlas of Genetics and Cytogenetics in Oncology and Haematology Function Identity Not determined but displays transcriptional activation potential. Hugo: FRYL Other names: DKFZp686E205; KIAA0826 Location: 4p12 Note: AF4p12 must be considered as a human ortholog of Drosophila Furry gene. Homology DNA/RNA AF4p12 shows about 60% identity to the human protein CAB42442. Two paralogs are found in human, rat and chicken, and one ortholog is found in Drosophila, C elegans, and Arabidopsis. Description Implicated in The genomic size of the gene is about 185 kb and contains at least 61 exons. t(4;11)(p12;q23)/Treatment-related acute lymphoblastic leukemia (t-ALL) → MLLAF4p12 Transcription mRNA size are about 11,42 kb with a large open reading frame of 9,318 kb. mRNA are expressed in a wide spectrum of normal tissues. The highest steadystate levels are in colon, placenta and brain. Pseudogene The t(4;11) translocation breakpoint between exon 6 from the MLL gene and exon 49 from AF4p12. Black bars, chromosome 11 DNA regions; grey bars, chromosome 4 DNA regions. MLL exons are indicated by black boxes, AF4p12 exons are indicated by grey boxes. No known pseudogene. Protein Description The protein size is 3105 amino acids. It contains two potential leucine zipper domains (aa 1229-1250 and 2923-2944). Expression Schematic representation of the domain structures of MLL and of the MLL/AF4p12 fusion protein. MT, DNA methyltransferase homology domain; SET, SET domain; LZ, Leucine Zipper domain. Arrows show the fusion point. Numbers refer to the positions of amino acids in wild-type MLL or AF4p12. In the predicted chimeric MLL/AF4p12 fusion protein, the MLL zinc finger and the MLL SET domains have been replaced by the AF4p12 leucine zipper domain. See above the mRNA expression, protein expression has not been studied. Localisation Not determined. Atlas Genet Cytogenet Oncol Haematol. 2006;10(2) 68 AF4p12 (ALL1 fused gene from chromosome 4p12) Hayette S MLL-AF4p12 displays transcriptional activation potential and the gain of transcriptional effector properties could contribute to the transformation of lymphoid progenitor by the fusion protein. Disease B-ALL. Prognosis Only one patient described, but she died one month after ALL diagnosis. Cytogenetics Translocation t(4;11)(p12;q23). Hybrid/Mutated Gene MLL-AF4p12. Abnormal Protein MLL-AF4. Oncogenesis The fusion domain of AF4p12 to the chimeric protein Atlas Genet Cytogenet Oncol Haematol. 2006;10(2) References Hayette S, Cornillet-Lefebvre P, Tigaud I, Struski S, Forissier S, Berchet A, Doll D, Gillot L, Brahim W, Delabesse E, Magaud JP, Rimokh R. AF4p12, a human homologue to the furry gene of Drosophila, as a novel MLL fusion partner. Cancer Res 2005 ;65:6521-6525. This article should be referenced as such: Hayette S. AF4p12 (ALL1 fused gene from chromosome 4p12). Atlas Genet Cytogenet Oncol Haematol.2006;10(2):6869. 69