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t(X;9)(q21;p13) PAX5::DACH2

Written2014-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1595

Clinics and Pathology

Disease Acute lymphoblastic leukemia (ALL)
Epidemiology Only one case to date, a 4-year old boy with a pre-B ALL (Coyaud et al., 2010).
Prognosis No data.


Cytogenetics Morphological The t(X;9)(q21;p13) was the sole abnormality.

Genes involved and Proteins

Gene NamePAX5 (paired box gene 5)
Location 9p13.2
Protein 391 amino acids; from N-term to C-term, PAX5 contains: a paired domain (aa: 16-142); an octapeptide (aa: 179-186); a partial homeodomain (aa: 228-254); a transactivation domain (aa: 304-359); and an inhibitory domain (aa: 359-391). 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; Medvedovic et al., 2011).
Gene NameDACH2 (dachshund family transcription factor 2)
Location Xq21.2
Dna / Rna 7 splice transcript variants.
Protein 599 amino acids and shorter forms; from N-term to C-term, contains a Poly-Gly (amino acids (aa) 56-61), a Dachshund domain motif N (aa 69-155), which interact with HDAC3 (histone deacetylase 3, 5q31), NCOR1 (nuclear receptor corepressor 1, 17p11.2), and SIX6 (SIX homeobox 6, 14q23.1), a Poly-Ala (aa 350-353), a Dachshund Domain motif C, which interact with EYA2 (eyes absent homolog 2 (Drosophila), 20q13.1), and a Coiled coil domain (aa 459-554) (Swiss-Prot). DACH2 is a transcriptional repressor of MYOG (myogenin, 1q32.1). PAX3 (paired box gene 3, 2q36.1) and DACH2 positively regulate each other, and support the existence of a PAX3/SIX1/EYA2/LBX1/DACH2 network in regulating the myogenic differentiation program (Mennerich and Braun, 2001; Kardon et al., 2002). Histone deacetylase (HDAC4) activity, imported into the nucleus, suppresses DACH2 gene expression in denervated muscle (Tang and Goldman, 2006; Cohen et al., 2007). DACH2 represses SIX1 (SIX homeobox 1, 14q23.1), and SIX1 overexpression has been described in gliomas. DACH1 (13q22) and DACH2 are required for Müllerian duct development. DACH2 is abundantly expressed in fallopian tubes, and it has been implicated in premature ovarian failure syndrome (Bione et al., 2004; Suzumori et al., 2007). In ovarian cancer, DACH2 is expressed, and a significantly reduced overall survival was found for tumours expressing high levels of DACH2 in the subgroup of serous carcinoma, but not in other subgroups (Nodin et al., 2012).

Result of the chromosomal anomaly

Hybrid gene
Description Fusion of PAX5 exon 5 to DACH2 exon 3.
Fusion Protein
  PAX5/DACH2 fusion protein.
Description 587 amino acids. The predicted fusion protein contains the DNA binding paired domain of PAX5 (the 201 N-term aa) and the DACHbox-C of DACH2 (the 386 C-term aa).

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.


Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalpra L, Crosignani PG, Ginelli E, Nappi R, Bernabini S, Bruni V, Torricelli F, Zuffardi O, Toniolo D.
Hum Reprod. 2004 Dec;19(12):2759-66. Epub 2004 Sep 30.
PMID 15459172
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. (REVIEW)
PMID 17440452
The histone deacetylase HDAC4 connects neural activity to muscle transcriptional reprogramming.
Cohen TJ, Waddell DS, Barrientos T, Lu Z, Feng G, Cox GA, Bodine SC, Yao TP.
J Biol Chem. 2007 Nov 16;282(46):33752-9. Epub 2007 Sep 16.
PMID 17873280
Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study.
Coyaud E, Struski S, Prade N, Familiades J, Eichner R, Quelen C, Bousquet M, Mugneret F, Talmant P, Pages MP, Lefebvre C, Penther D, Lippert E, Nadal N, Taviaux S, Poppe B, Luquet I, Baranger L, Eclache V, Radford I, Barin C, Mozziconacci MJ, Lafage-Pochitaloff M, Antoine-Poirel H, Charrin C, Perot C, Terre C, Brousset P, Dastugue N, Broccardo C.
Blood. 2010 Apr 15;115(15):3089-97. doi: 10.1182/blood-2009-07-234229. Epub 2010 Feb 16.
PMID 20160164
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
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
Pax3 and Dach2 positive regulation in the developing somite.
Kardon G, Heanue TA, Tabin CJ.
Dev Dyn. 2002 Jul;224(3):350-5.
PMID 12112464
Pax5: a master regulator of B cell development and leukemogenesis.
Medvedovic J, Ebert A, Tagoh H, Busslinger M.
Adv Immunol. 2011;111:179-206. doi: 10.1016/B978-0-12-385991-4.00005-2. (REVIEW)
PMID 21970955
Activation of myogenesis by the homeobox gene Lbx1 requires cell proliferation.
Mennerich D, Braun T.
EMBO J. 2001 Dec 17;20(24):7174-83.
PMID 11742994
Discovery of dachshund 2 protein as a novel biomarker of poor prognosis in epithelial ovarian cancer.
Nodin B, Fridberg M, Uhlen M, Jirstrom K.
J Ovarian Res. 2012 Jan 27;5(1):6. doi: 10.1186/1757-2215-5-6.
PMID 22284433
Candidate genes for premature ovarian failure.
Suzumori N, Pangas SA, Rajkovic A.
Curr Med Chem. 2007;14(3):353-7. (REVIEW)
PMID 17305537
Activity-dependent gene regulation in skeletal muscle is mediated by a histone deacetylase (HDAC)-Dach2-myogenin signal transduction cascade.
Tang H, Goldman D.
Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16977-82. Epub 2006 Oct 30.
PMID 17075071
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


This paper should be referenced as such :
Huret, JL
t(X;9)(q21;p13) PAX5/DACH2
Atlas Genet Cytogenet Oncol Haematol. 2014;18(8):608-610.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(X;9)(q21;p13) PAX5/DACH2

External links

PAX5 (9p13.2) DACH2 (Xq21.2)

Mitelman databaset(X;9)(q21;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databasePAX5::DACH2 [MCList]  PAX5 (9p13.2) DACH2 (Xq21.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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