Atlas of Genetics and Cytogenetics in Oncology and Haematology
AF4p12
| Identity |
| Other names | DKFZp686E205 |
| KIAA0826 | |
| Hugo | FRYL |
| Location | 4p12 |
| Note | AF4p12 must be considered as a human ortholog of Drosophila Furry gene |
| DNA/RNA |
| Description | The genomic size of the gene is about 185 kb and contains at least 61 exons |
| 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 steady-state levels are in colon, placenta and brain. |
| Pseudogene | 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 | see above the mRNA expression, protein expression has not been studied |
| Localisation | not determined |
| Function | not determined but displays transcriptional activation potential |
| Homology | 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. |
| Implicated in |
| Entity | t(4;11)(p12;q23) / Treatment-related acute lymphoblastic leukemia (t-ALL) --> MLL - AF4p12 |
| Disease | B-ALL |
| Prognosis | Only one patient described, but she died one month after ALL diagnosis |
| Cytogenetics | translocation t(4;11)(p12;q23) |
 | |
| 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. | |
| Hybrid/Mutated Gene | MLL-AF4p12 |
| Abnormal Protein | MLL-AF4 |
 | |
| 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 In the predicted chimeric MLL/AF4p12 fusion protein, the MLL zinc finger and the MLL SET domains have been replaced by the AF4p12 leucine zipper domain. | |
| Oncogenesis | The fusion domain of AF4p12 to the chimeric protein 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. |
| External links |
| Bibliography |
| AF4p12, a human homologue to the furry gene of Drosophila, as a novel MLL fusion partner. |
| 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 |
| Cancer research. 2005 ; 65 (15) : 6521-6525. |
| PMID 16061630 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 10-2005 | Sandrine Hayette |
| Laboratoire d'Hématologie et de cytogénétique, Hôpital Ed Herriot and INSERM U590, Lyon, France |
| Citation |
| This paper should be referenced as such : |
| Hayette S . AF4p12. Atlas Genet Cytogenet Oncol Haematol. October 2005 . URL : http://AtlasGeneticsOncology.org/Genes/AF4q12ID42970ch4p12.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:01:12 2008 |
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