Download Gene Section PBX1 (pre-B-cell leukemia homeobox 1) Atlas of Genetics and Cytogenetics

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in Oncology and Haematology
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PBX1 (pre-B-cell leukemia homeobox 1)
Jean-Loup Huret
Genetics, Department of Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021
Poitiers, France
Published in Atlas Database: November 1997
Online version is available at: http://AtlasGeneticsOncology.org/Genes/PBX1.html
DOI: 10.4267/2042/32045
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 1997 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Identity
Other names: PRL
Location: 1q23
C-PBX1 at 1q23 in normal cells: PAC 953E11 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to
validate the probes are welcome: Contact M Rocchi.
DNA/RNA
Homology
Transcription
PBX2 and PBX3 have nearly identical homeodomains;
homeobox proteins; homologs of the fly protein
‘extradenticle’.
1.8 kb; alternate splicing → PBX1a and PBX1b,
different only in the C-term.
Implicated in
Protein
t(1;19)(q23;p13)/B-ALL → E2A/PBX1
Description
Disease
Pre B ALL mainly; CD19+, CD10+, CD9+.
Prognosis
Controversial data; associated with poor prognostic
features.
Cytogenetics
Two different forms: the balanced t(1;19); the
unbalanced form, with 2 normal chromosomes 1, a
der(19), and a normal chromosome 19: → partial
trisomy for 1q23-1qter and monosomy for 19p13.3pter; additional anomalies: in half of the cases; they are
various.
338 (PBX1b) and 430 (PBX1a) amino acids; 37 kDa;
homeodomain (to binds to DNA).
Expression
Ubiquitously expressed, except in B and T lineages.
Localisation
Nuclear (probable).
Function
Associated to HOX proteins, can bind to specific DNA
sequences (5’ ATCAATCAA 3’), for transcription
regulation.
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2)
49
PBX1 (pre-B-cell leukemia homeobox 1)
Huret JL
Mellentin JD, Nourse J, Hunger SP, Smith SD, Cleary ML.
Molecular analysis of the t(1;19) breakpoint cluster region in
pre-B
cell
acute
lymphoblastic
leukemias.
Genes
Chromosomes Cancer 1990 Sep;2(3):239-47.
Hybrid/Mutated Gene
5’ E2A from 19p13 fused to 3’ PBX1; breakpoints are
clustered on both genes.
Abnormal Protein
N-term transcriptional activation domains from E2A
fused to the Hox cooperative motif and homeodomain
of C-term PBX1.
Oncogenesis
Potent
transcriptional
activator;
pleiotropic
transforming activity.
Nourse J, Mellentin JD, Galili N, Wilkinson J, Stanbridge E,
Smith SD, Cleary ML. Chromosomal translocation t(1;19)
results in synthesis of a homeobox fusion mRNA that codes for
a potential chimeric transcription factor. Cell 1990 Feb
23;60(4):535-45.
Hunger SP. Chromosomal translocations involving the E2A
gene in acute lymphoblastic leukemia: clinical features and
molecular pathogenesis. Blood 1996 Feb 15;87(4):1211-24.
This article should be referenced as such:
References
Huret JL. PBX1 (pre-B-cell leukemia homeobox 1). Atlas Genet
Cytogenet Oncol Haematol.1997;1(2):49-50.
Kamps MP, Murre C, Sun XH, Baltimore D. A new homeobox
gene contributes the DNA binding domain of the t(1;19)
translocation protein in pre-B ALL. Cell 1990 Feb 23;60(4):54755.
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2)
50