Download Leukaemia Section t(3;3)(q25;q27) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Short Communication
t(3;3)(q25;q27)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: January 2010
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t0303q25q27ID2127.html
DOI: 10.4267/2042/44898
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Protein
706 amino acids; composed of a NH2-term BTB/POZ
domain (amino acids 1-130 (32-99 according to SwissProt) which mediates homodimerization and proteinprotein 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 Cterm (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 (AlbagliCuriel, 2003).
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
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.
References
Akasaka T, Lossos IS, Levy R. BCL6 gene translocation in
follicular lymphoma: a harbinger of eventual transformation to
diffuse
aggressive
lymphoma.
Blood.
2003
Aug
15;102(4):1443-8
Albagli-Curiel O. Ambivalent role of BCL6 in cell survival and
transformation. Oncogene. 2003 Jan 30;22(4):507-16
Dansithong W, Paul S, Comai L, Reddy S. MBNL1 is the
primary determinant of focus formation and aberrant insulin
receptor splicing in DM1. J Biol Chem. 2005 Feb
18;280(7):5773-80
Goers ES, Purcell J, Voelker RB, Gates DP, Berglund JA.
MBNL1 binds GC motifs embedded in pyrimidines to regulate
alternative splicing. Nucleic Acids Res. 2010 Apr;38(7):246784
This article should be referenced as such:
BCL6
Huret JL. t(3;3)(q25;q27). Atlas Genet Cytogenet Oncol
Haematol. 2010; 14(11):1077.
Location: 3q27
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(11)
1077