Download Gene Section JARID1A (jumonji, AT rich interactive domain 1A (RBBP2-like))

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Gene Section
Mini Review
JARID1A (jumonji, AT rich interactive domain 1A
(RBBP2-like))
Laura JCM van Zutven, Anne RM von Bergh
Department of Clinical Genetics, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The
Netherlands
Published in Atlas Database: April 2006
Online updated version: http://AtlasGeneticsOncology.org/Genes/JARID1AID41033ch12p13.html
DOI: 10.4267/2042/38340
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 2006 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Localisation
Identity
Nuclear.
Hugo: JARID1A
Other names: RBBP2; RBP2
Location: 12p13
Local order: very telomeric side of 12p13.
Function
Probably in regulating transcription through changes in
chromatin structure.
Homology
DNA/RNA
RBP2 homologue 1 (RBP2-H1).
Description
Implicated in
31 exons over 105 kb.
Transcription
t(11;12)(p15;p13) in acute
megakaryoblastic leukemia (AM -M7) →
NUP98 /JARID1A
From centromere to telomere, yielding mRNA of 6,5
kb.
Protein
Note: Only one case to date, a 1-year-old boy.
Prognosis
Patient reached complete remission and remains in
complete remission (CR) for at least 5 years.
Cytogenetics
Description
JARID1A (Jumonji, AT-rich interactive domain 1A)
encodes the 196 kDa retinoblastoma binding protein 2
(1722 amino acids). It contains several motifs,
including a leucine-X-cysteine-X-glutamic acid
(LXCXE) motif, which is important for association
with the T/E1A pocket domain of the retinoblastoma
protein. Additionally, the protein contains ARID,
Jumonji, and 3 PHD (LAP) domains, which are
frequent in proteins regulating transcription through
changes in chromatin structure.
Expression
Complex/variant t(11;12)(p15;p13); i.e.
t(11;21;12)(p15;p13;p13), but misdiagnosed
Widely expressed.
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4)
216
JARID1A (jumonji, AT rich interactive domain 1A (RBBP2-like))
van Zutven LJCM, von Bergh ARM
as add(11)(p15) and
der(21)t(11;21)(p15;p13).
Chromosome 12 was cytogenetically normal by
conventional banding techniques and only identified as
a partner in this translocation after FISH.
Hybrid/Mutated Gene
5' NUP98 - 3' JARID1A, including the first 13 exons of
NUP98 and exons 28-31 of JARID1A.
Abnormal Protein
The NUP98-JARID1A fusion protein contains the PheGly (FG) repeats of the N-terminal part of NUP98. The
JARID1A sequence starting with exon 28 still contains
the sequence encoding the C-terminal PHD domain.
References
Kim YW, Otterson GA, Kratzke RA, Coxon AB, Kaye FJ.
Differential specificity for binding of retinoblastoma binding
protein 2 to RB, p107, and TATA-binding protein. Mol Cell Biol
1994;14:7256-7264.
Benevolenskaya EV, Murray HL, Branton P, Young RA, Kaelin
WG Jr. Binding of pRB to the PHD protein RBP2 promotes
cellular differentiation. Mol Cell 2005;18:623-635.
van Zutven LJ, Onen E, Velthuizen SC, van Drunen E, von
Bergh AR, van den Heuvel-Eibrink MM, Veronese A, Mecucci
C, Negrini M, de Greef GE, Beverloo HB. Identification of
NUP98 abnormalities in acute leukemia: JARID1A (12p13) as
a new partner gene. Genes Chromosomes Cancer
2006;45:437-446.
This article should be referenced as such:
van Zutven LJCM, von Bergh ARM. JARID1A (jumonji, AT rich
interactive domain 1A (RBBP2-like)). Atlas Genet Cytogenet
Oncol Haematol.2006;10(4):216-217.
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4)
217