dic(7;9)(p11-12;p12-13) PAX5/LOC392027
2010-02-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Phenotype stem cell origin
B-cell precursor ALL.
Epidemiology
13 cases to date; sex ratio was 7M/6F, median age was 17 years (range 2-51 years) (An et al., 2008).
Prognosis
No data.
Genes Involved and Proteins
Gene name
LOC392027 (ribosome binding protein 1 homolog 180kDa (dog) pseudogene)
Location
7p12.1
Protein description
Ribosome-binding protein 1 pseudogene.
Gene name
PAX5 (paired box gene 5)
Location
9p13.2
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).
Result of the Chromosomal Anomaly
Description
Break in PAX5 intron 4. Out of frame fusion of 5 PAX5 - 3 LOC392027.
Description
The predicted fusion protein contains the DNA binding paired domain of PAX5.
Oncogenesis
Loss of function of PAX5 is likely to be the oncogenic event.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 18957548 | 2008 | Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer. | An Q et al |
| 17440452 | 2007 | Pax5: the guardian of B cell identity and function. | Cobaleda C et al |
| 15004008 | 2004 | Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene. | Fuxa M et al |
| 15258579 | 2004 | B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5. | Johnson K et al |
| 16680144 | 2006 | Transcription factor Pax5 (BSAP) transactivates the RAG-mediated V(H)-to-DJ(H) rearrangement of immunoglobulin genes. | Zhang Z et al |
Summary
Fusion gene
PAX5/LOC392027 PAX5 (9p13.2) LOC392027 (-) M dic(7;9)(p12;p13)
Note
See also the paper on dic(9;20)(p11-13;q11).
Citation
Jean-Loup Huret
dic(7;9)(p11-12;p12-13) PAX5/LOC392027
Atlas Genet Cytogenet Oncol Haematol. 2010-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1554/dic(7
