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t(3;3)(q25;q27) MBNL1/BCL6

Written2010-01Jean-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 2127

Clinics and Pathology

Disease Non Hodgkin lymphoma.
Epidemiology One case of follicular lymphoma transformed to diffuse aggressive lymphoma, from a study with no individual data (Akasaka et al., 2003).

Genes involved and Proteins

Gene Name MBNL1
Location 3q25
Protein Various splicing forms; one isoform comprises 388 amino acids, with 4 zinc fingers at amino acids 13-41, 47-73, 179-207 and 215-241, according to Swiss-Prot. RNA-binding protein which regulates alternative splicing of pre-mRNAs. MBNL1 has a high-affinity binding for UGCU motifs, but cytidines are also often present in position 1 or 4, and general MBNL1 binding site can be defined as YGCY (Goers et al., 2010). Plays an important role in the development of myotonic dystrophy 1 pathology. MBNL1 and MBNL2 play a facilitatory role in insulin receptor exon 11 splicing (Dansithong et al., 2005). MBNL1 also regulates sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1), the cardiac troponin T (cTNT) , and the fast troponin T (TNNT3) splicings.
Gene Name BCL6
Location 3q27
Protein 706 amino acids; composed of a NH2-term BTB/POZ domain (amino acids 1-130 (32-99 according to Swiss-Prot) which mediates homodimerization and protein-protein interactions with other corepressors (including HDAC1 and NCOR2/SMRT to constitute a large repressing complex, another transcription repression domain (191-386), PEST sequences (300-417) with a KKYK motif (375-379), and six zinc finger at the C-term (518-541, 546-568, 574-596, 602-624, 630-652, 658-681), responsible for sequence specific DNA binding. Transcription repressor; recognizes the consensus sequence: TTCCT(A/C)GAA (Albagli-Curiel, 2003).

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

BCL6 gene translocation in follicular lymphoma: a harbinger of eventual transformation to diffuse aggressive lymphoma.
Akasaka T, Lossos IS, Levy R.
Blood. 2003 Aug 15;102(4):1443-8. Epub 2003 May 8.
PMID 12738680
 
Ambivalent role of BCL6 in cell survival and transformation.
Albagli-Curiel O.
Oncogene. 2003 Jan 30;22(4):507-16.
PMID 12555064
 
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1.
Dansithong W, Paul S, Comai L, Reddy S.
J Biol Chem. 2005 Feb 18;280(7):5773-80. Epub 2004 Nov 16.
PMID 15546872
 
MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing.
Goers ES, Purcell J, Voelker RB, Gates DP, Berglund JA.
Nucleic Acids Res. 2010 Jan 13.
PMID 20071745
 

Citation

This paper should be referenced as such :
Huret, JL
t(3;3)(q25;q27)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1077-1077.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0303q25q27ID2127.html


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

Genes BCL6

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;3)(q25;q27) MBNL1/BCL6

External links

MBNL1 (3q25.1) BCL6 (3q27.3)

Mitelman databaset(3;3)(q25;q27) [Case List]    t(3;3)(q25;q27) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseMBNL1/BCL6 [MCList]  MBNL1 (3q25.1) BCL6 (3q27.3)
 
Disease databaset(3;3)(q25;q27) MBNL1/BCL6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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