Atlas of Genetics and Cytogenetics in Oncology and Haematology
PBX1
| Identity |
| Other names | PRL |
| HGNC (Hugo) | PBX1 |
| Location | 1q23 |
| Location_base_pair | Starts at 162795426 and ends at 163087669 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| DNA/RNA |
 | |
| c-PBX1at 1q23 in normal cells: PAC 953E11 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi | |
| Transcription | 1.8 kb; alternate splicing -->PBX1a and PBX1b, different only in the C-Term |
| Protein |
| Description | 338 (PBX1b) and 430 (PBX1a) amino acids; 37 kDa; homeodomain (to binds to DNA) |
| Expression | ubiquitously expressed, except in B and T lineages |
| Localisation | nuclear (probable) |
| Function | associated to HOX proteins, can bind to specific DNA sequences (5' ATCAATCAA 3'), for transcription regulation |
| Homology | PBX2 and PBX3 have nearly identical homeodomains; homeobox proteins; homologues of the fly protein 'extradenticle' |
| Implicated in |
| Entity | t(1;19)(q23;p13) /B-ALL --> E2A /PBX1 |
| Disease | pre B ALL mainly; CD19+, CD10+, CD9+ |
| Prognosis | controversial data; associated with poor prognostic features |
| Cytogenetics | two different forms: - the balanced t(1;19); - the unbalanced form, with 2 normal chromosomes 1, a der(19), and a normal chromosome19: --> partial trisomy for 1q23-1qter and monosomy for 19p13.3-pter ; additional anomalies: in half of the cases; they are various |
| Hybrid/Mutated Gene | 5' E2A from 19p13 fused to 3' PBX1; breakpoints are clustered on both genes |
| Abnormal Protein | N-term transcriptional activation domains from E2A fused to the Hox cooperative motif and homeodomain of C-term PBX1 |
| Oncogenesis | potent transcriptional activator; pleiotropic transforming activity |
| Breakpoints |
 | |
| External links |
| Bibliography |
| Chromosomal translocations involving the E2A gene in acute lymphoblastic leukemia: clinical features and molecular pathogenesis. |
| Hunger SP |
| Blood. 1996 ; 87 (4) : 1211-1224. |
| PMID 8608207 |
| Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor. |
| Nourse J, Mellentin JD, Galili N, Wilkinson J, Stanbridge E, Smith SD, Cleary ML |
| Cell. 1990 ; 60 (4) : 535-545. |
| PMID 1967982 |
| Molecular analysis of the t(1;19) breakpoint cluster region in pre-B cell acute lymphoblastic leukemias. |
| Mellentin JD, Nourse J, Hunger SP, Smith SD, Cleary ML |
| Genes, chromosomes & cancer. 1990 ; 2 (3) : 239-247. |
| PMID 2078515 |
| A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL. |
| Kamps MP, Murre C, Sun XH, Baltimore D |
| Cell. 1990 ; 60 (4) : 547-555. |
| PMID 1967983 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 10-1997 | Jean-Loup Huret |
| Updated | 11-1997 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| - . PBX1. Atlas Genet Cytogenet Oncol Haematol. October 1997 . URL : http://AtlasGeneticsOncology.org/Genes/PBX1.html |
| Huret JL . PBX1. Atlas Genet Cytogenet Oncol Haematol. November 1997 . URL : http://AtlasGeneticsOncology.org/Genes/PBX1.html |
| Huret JL . PBX1. Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Genes/PBX1.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:37:17 CEST 2009 |
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