dic(3;9)(p14;p13) PAX5/FOXP1
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Written | 2010-08 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
(Note : for Links provided by Atlas : click)
1. Identity
ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
ICD-Morpho | 9811/3 B lymphoblastic leukaemia/lymphoma, NOS |
Atlas_Id | 1553 |
Note | NOTE See also the paper on dic(9;20)(p11-13;q11). |
2. Clinics and Pathology
Disease | Acute lymphoblastic leukaemia (ALL). |
Phenotype / cell stem origin | B-cell precursor ALL. |
Epidemiology | One case to date (Mullighan et al., 2007). |
Prognosis | No data. |
3. Genes involved and Proteins
Gene Name | PAX5 (paired box gene 5) |
Location | 9p13.2 |
Protein | Lineage-specific transcription factor; recognizes the concensus recognition sequence GNCCANTGAAGCGTGAC, where N is any nucleotide. Involved in B-cell differentiation. Entry of common lymphoid progenitors into the B cell lineage depends on E2A, EBF1, and PAX5; activates B-cell specific genes and repress genes involved in other lineage commitments. Activates the surface cell receptor CD19 and repress FLT3. Pax5 physically interacts with the RAG1/RAG2 complex, and removes the inhibitory signal of the lysine-9-methylated histone H3, and induces V-to-DJ rearrangements. Genes repressed by PAX5 expression in early B cells are restored in their function in mature B cells and plasma cells, and PAX5 repressed (Fuxa et al., 2004; Johnson et al., 2004; Zhang et al., 2006; Cobaleda et al., 2007). |
Gene Name | FOXP1 (Forkhead box P1) |
Location | 3p13 |
Protein | Transcriptional repressor. Involved in cardiomyocyte proliferation, motor neuron migration, B-lymphocyte development, and the generation of quiescent naive T cells (Shi et al., 2008; Feng et al., 2010; Rao et al., 2010; Zhang et al., 2010; Hisaoka et al., 2010). |
4. Result of the chromosomal anomaly
Description | Fusion of PAX5 exon 6 to FOXP1 exon 7. |
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Description | The predicted fusion protein contains the DNA binding paired domain of PAX5 and the DNA-binding and transcriptional regulator domain of FOXP1. 877 amino acids. |
5. To be noted
Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
6. Bibliography
Pax5: the guardian of B cell identity and function. |
Cobaleda C, Schebesta A, Delogu A, Busslinger M. |
Nat Immunol. 2007 May;8(5):463-70. |
PMID 17440452 |
Foxp1 is an essential transcriptional regulator for the generation of quiescent naive T cells during thymocyte development. |
Feng X, Ippolito GC, Tian L, Wiehagen K, Oh S, Sambandam A, Willen J, Bunte RM, Maika SD, Harriss JV, Caton AJ, Bhandoola A, Tucker PW, Hu H. |
Blood. 2010 Jan 21;115(3):510-8. Epub 2009 Nov 12. |
PMID 19965654 |
Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene. |
Fuxa M, Skok J, Souabni A, Salvagiotto G, Roldan E, Busslinger M. |
Genes Dev. 2004 Feb 15;18(4):411-22. |
PMID 15004008 |
The forkhead transcription factors, Foxp1 and Foxp2, identify different subpopulations of projection neurons in the mouse cerebral cortex. |
Hisaoka T, Nakamura Y, Senba E, Morikawa Y. |
Neuroscience. 2010 Mar 17;166(2):551-63. Epub 2009 Dec 28. |
PMID 20040367 |
B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5. |
Johnson K, Pflugh DL, Yu D, Hesslein DG, Lin KI, Bothwell AL, Thomas-Tikhonenko A, Schatz DG, Calame K. |
Nat Immunol. 2004 Aug;5(8):853-61. Epub 2004 Jul 18. |
PMID 15258579 |
Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. |
Mullighan CG, Goorha S, Radtke I, Miller CB, Coustan-Smith E, Dalton JD, Girtman K, Mathew S, Ma J, Pounds SB, Su X, Pui CH, Relling MV, Evans WE, Shurtleff SA, Downing JR. |
Nature. 2007 Apr 12;446(7137):758-64. |
PMID 17344859 |
MicroRNA-34a perturbs B lymphocyte development by repressing the forkhead box transcription factor Foxp1. |
Rao DS, O'Connell RM, Chaudhuri AA, Garcia-Flores Y, Geiger TL, Baltimore D. |
Immunity. 2010 Jul 23;33(1):48-59. Epub 2010 Jul 1. |
PMID 20598588 |
Down-regulation of the forkhead transcription factor Foxp1 is required for monocyte differentiation and macrophage function. |
Shi C, Sakuma M, Mooroka T, Liscoe A, Gao H, Croce KJ, Sharma A, Kaplan D, Greaves DR, Wang Y, Simon DI. |
Blood. 2008 Dec 1;112(12):4699-711. Epub 2008 Sep 17. |
PMID 18799727 |
Foxp1 coordinates cardiomyocyte proliferation through both cell-autonomous and nonautonomous mechanisms. |
Zhang Y, Li S, Yuan L, Tian Y, Weidenfeld J, Yang J, Liu F, Chokas AL, Morrisey EE. |
Genes Dev. 2010 Aug 15;24(16):1746-57. |
PMID 20713518 |
Transcription factor Pax5 (BSAP) transactivates the RAG-mediated V(H)-to-DJ(H) rearrangement of immunoglobulin genes. |
Zhang Z, Espinoza CR, Yu Z, Stephan R, He T, Williams GS, Burrows PD, Hagman J, Feeney AJ, Cooper MD. |
Nat Immunol. 2006 Jun;7(6):616-24. Epub 2006 May 7. |
PMID 16680144 |
7. Citation
This paper should be referenced as such : |
Huret, JL |
dic(3;9)(p14;p13) PAX5/FOXP1 |
Atlas Genet Cytogenet Oncol Haematol. 2011;15(5):463-464. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/dic0309p14p13ID1553.html |
8. Translocations implicated (Data extracted from papers in the Atlas)
9. External links
Mitelman database | dic(3;9)(p14;p13) [Case List] dic(3;9)(p14;p13) [Transloc-MCList] PAX5/FOXP1 [Fusion-MCList] |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9811/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
Mitelman database | PAX5/FOXP1 [MCList] PAX5 (9p13.2) FOXP1 (3p13) |
TICdb | PAX5/FOXP1 PAX5 (9p13.2) FOXP1 (3p13) |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Nov 28 16:16:53 CET 2018 |
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