Download Gene Section POU2AF1 (POU domain, class 2, associating factor 1)

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Transcript
Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Gene Section
Mini Review
POU2AF1 (POU domain, class 2, associating
factor 1)
Sylvie Galiègue-Zouitina
U.124 INSERM, I.R.C.L., Place de Verdun, 59045 Lille Cedex, France
Published in Atlas Database: March 1998
Online updated version: http://AtlasGeneticsOncology.org/Genes/OBF94.html
DOI: 10.4267/2042/37408
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 1998 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Transcription
Identity
3.4 kb mRNA; coding sequence: 770 bp, spanning from
the end of exon 1 to the beginning of exon 5.
Other names: BOB1; OCA-B; POU2AF1 (POU
domain, class2, associating factor 1)
Location: 11q23.1
Local order: telomeric to ATM.
Protein
Description
256 amino acids; 27.4 kDa; proline rich protein with no
recognizable domain or motifs.
Expression
Constitutively expressed in B-cells and inducible in Tcells.
Localisation
Nuclear.
Function
B-cell specific transcriptional coactivator: involved in
the transcription of immunoglobulin genes through
recruitment to the highly conserved octamer site of
immunoglobulin promoters, mediated by either Oct-1
or Oct-2 transcription factor; forms a ternary complex
on DNA together with either Oct-1 or Oct-2
transcription factor; is essential for the response of Bcells to antigens and is required for the formation of
germinal centres.
POU2AF1 (11q23) - Courtesy Mariano Rocchi, Resources for
Molecular Cytogenetics. Laboratories willing to validate the
probes are welcome.
DNA/RNA
Homology
No homology to known proteins.
DNA Diagram
Implicated in
Description
t(3;11)(q27;q23.1)/NHL → BCL6/OBF1
Spans on a 30 kb genomic fragment; five exons; large
fifth exon, with many 3'-UTR repetitive elements, two
pyrimidine rich regions (a duplicated CT-rich region
and a [CCTT]n tetranucleotide tandem repeat) and a
282 nucleotides long Alu element.
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2)
Disease
NHL.
43
POU2AF1 (POU domain, class 2, associating factor 1)
Galiègue-Zouitina S
activity through association with octamer-binding proteins. Cell
1995 Feb 10;80(3):497-506.
Cytogenetics
Found in complex karyotypes.
Hybrid/Mutated Gene
5' BOB1 - 3' BCL6 and 5' BCL6 - 3' BOB1, leading to
two fusion transcripts.
Abnormal Protein
No fusion protein, but promoter exchange between both
partner genes.
Galiègue Zouitina S, Quief S, Hildebrand MP, Denis C, Lecocq
G, Collyn-d'Hooghe M, Bastard C, Yuille M, Dyer MJ,
Kerckaert JP. The B cell transcriptional coactivator
BOB1/OBF1 gene fuses to the LAZ3/BCL6 gene by
t(3;11)(q27;q23.1) chromosomal translocation in a B cell
leukemia line (Karpas 231). Leukemia 1996 Apr;10(4):579-87.
Schubart DB, Rolink A, Kosco-Vilbois MH, Botteri F, Matthias
P. B-cell-specific coactivator OBF-1/OCA-B/Bob1 required for
immune response and germinal centre formation. Nature 1996
Oct 10;383(6600):538-42.
References
Zwilling S, Dieckmann A, Pfisterer P, Angel P, Wirth T.
Inducible expression and phosphorylation of coactivator
BOB.1/OBF.1 in T cells. Science 1997 Jul 11;277(5323):221-5.
Gstaiger M, Knoepfel L, Georgiev O, Schaffner W, Hovens
CM. A B-cell coactivator of octamer-binding transcription
factors. Nature 1995 Jan 26;373(6512):360-2.
This article should be referenced as such:
Luo Y, Roeder RG. Cloning, functional characterization, and
mechanism of action of the B-cell-specific transcriptional
coactivator OCA-B. Mol Cell Biol 1995 Aug;15(8):4115-24.
Gali. POU2AF1 (POU domain, class 2, associating factor 1)
Atlas Genet Cytogenet Oncol Haematol.1998;2(2):43-44.
Strubin M, Newell JW, Matthias P. OBF-1, a novel B cellspecific coactivator that stimulates immunoglobulin promoter
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2)
44