dic(9;18)(p13;q11) PAX5/ZNF521

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
ZNF521 (zinc finger protein 521)
Protein description
Transcription factor. Involved in B-cell lineage commitment, in the differentiation of neural progenitors; Inhibits EBF1. Binds Runx2 and represses its transcriptional activity. Regulates osteoblast differentiation and bone formation (Bond et al., 2008; Lobo et al., 2008; Wu et al., 2009; Hesse et al., 2010).

Result of the Chromosomal Anomaly


Fusion of PAX5 exon 7 to ZNF521 exon 4.
Atlas Image


The predicted fusion protein contains the DNA binding paired domain of PAX5 and the DNA-binding and transcriptional regulator domain of ZNF521. 1541 amino acids.


Pubmed IDLast YearTitleAuthors
175435732008Early hematopoietic zinc finger protein-zinc finger protein 521: a candidate regulator of diverse immature cells.Bond HM et al
174404522007Pax5: the guardian of B cell identity and function.Cobaleda C et al
150040082004Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.Fuxa M et al
203922152010Zinc finger protein 521, a new player in bone formation.Hesse E et al
152585792004B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5.Johnson K et al
183388162008Pivotal role of early B-cell factor 1 in development of striatonigral medium spiny neurons in the matrix compartment.Lobo MK et al
173448592007Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia.Mullighan CG et al
190950882009Zfp521 antagonizes Runx2, delays osteoblast differentiation in vitro, and promotes bone formation in vivo.Wu M 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/ZNF521 PAX5 (9p13.2) ZNF521 (18q11.2) M t(9;18)(p13;q11)|PAX5/ZNF521 PAX5 (9p13.2) ZNF521 (18q11.2) TIC


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


Jean-Loup Huret

dic(9;18)(p13;q11) PAX5/ZNF521

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1556/dic(9;18)(p13;q11)