Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

dic(3;9)(p14;p13) PAX5/FOXP1

Written2010-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

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).

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.

Genes involved and Proteins

Gene Name PAX5
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
Location 3p14
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).

Result of the chromosomal anomaly

Hybrid gene
Description Fusion of PAX5 exon 6 to FOXP1 exon 7.
  
Fusion Protein
 
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.
  

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.

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
 

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.org/Anomalies/dic0309p14p13ID1553.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes FOXP1

Translocations implicated (Data extracted from papers in the Atlas)

 dic(3;9)(p14;p13) PAX5/FOXP1

External links

PAX5 (9p13.2) FOXP1 (3p13)

PAX5 (9p13.2) FOXP1 (3p13)

Mitelman databasedic(3;9)(p14;p13) [Case List]    dic(3;9)(p14;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databasePAX5/FOXP1 [MCList]  PAX5 (9p13.2) FOXP1 (3p13)
TICdbPAX5/FOXP1  PAX5 (9p13.2) FOXP1 (3p13)
 
Disease databasedic(3;9)(p14;p13) PAX5/FOXP1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:53:47 CET 2017


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.