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

2010-01-01   Jean-Loup Huret 

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

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 (muscleblind like splicing regulator 1)
Location
3q25.1
Protein description
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 (B-Cell Lymphoma 6)
Location
3q27.3
Protein description
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).

Bibliography

Pubmed IDLast YearTitleAuthors
127386802003BCL6 gene translocation in follicular lymphoma: a harbinger of eventual transformation to diffuse aggressive lymphoma.Akasaka T et al
125550642003Ambivalent role of BCL6 in cell survival and transformation.Albagli-Curiel O et al
155468722005MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1.Dansithong W et al
200717452010MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing.Goers ES et al

Summary

Fusion gene

MBNL1/BCL6 MBNL1 (3q25.1) BCL6 (3q27.3) M t(3;3)(q25;q27)

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/haematological/2127/t(3;3)(q25;q27)

External Links