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

2010-08-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Phenotype stem cell origin

B-cell precursor ALL.


One case to date (Mullighan et al., 2007).


No data.

Genes Involved and Proteins

Gene name
PAX5 (paired box gene 5)
Protein description
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)
Protein description
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


Fusion of PAX5 exon 6 to FOXP1 exon 7.
Atlas Image


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.

Highly cited references

Pubmed IDYearTitleCitations
282199272017Molecular role of the PAX5-ETV6 oncoprotein in promoting B-cell acute lymphoblastic leukemia.16
219628972011FOXP1 and PAX5 are rare but recurrent translocations partners in acute lymphoblastic leukemia.2


Pubmed IDLast YearTitleAuthors
174404522007Pax5: the guardian of B cell identity and function.Cobaleda C et al
199656542010Foxp1 is an essential transcriptional regulator for the generation of quiescent naive T cells during thymocyte development.Feng X et al
150040082004Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.Fuxa M et al
200403672010The forkhead transcription factors, Foxp1 and Foxp2, identify different subpopulations of projection neurons in the mouse cerebral cortex.Hisaoka T et al
152585792004B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5.Johnson K et al
173448592007Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia.Mullighan CG et al
205985882010MicroRNA-34a perturbs B lymphocyte development by repressing the forkhead box transcription factor Foxp1.Rao DS et al
187997272008Down-regulation of the forkhead transcription factor Foxp1 is required for monocyte differentiation and macrophage function.Shi C et al
207135182010Foxp1 coordinates cardiomyocyte proliferation through both cell-autonomous and nonautonomous mechanisms.Zhang Y et al
166801442006Transcription factor Pax5 (BSAP) transactivates the RAG-mediated V(H)-to-DJ(H) rearrangement of immunoglobulin genes.Zhang Z et al


Fusion gene

PAX5/FOXP1 PAX5 (9p13.2) FOXP1 (3p13) M t(3;9)(p13;p13)|PAX5/FOXP1 PAX5 (9p13.2) FOXP1 (3p13) TIC


u0007NOTE See also the paper on dic(9;20)(p11-13;q11).


Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1553/dic(3;9)(p14;p13)