PMID- 16419055
OWN - NLM
STAT- MEDLINE
DCOM- 20060530
LR  - 20061115
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 45
IP  - 5
DP  - 2006 May
TI  - Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new 
      partner gene.
PG  - 437-46
AB  - Chromosome rearrangements are found in many acute leukemias. As a result, genes 
      at the breakpoints can be disrupted, forming fusion genes. One of the genes 
      involved in several chromosome aberrations in hematological malignancies is NUP98 
      (11p15). As NUP98 is close to the 11p telomere, small translocations might easily 
      be missed. Using a NUP98-specific split-signal fluorescence in situ hybridization 
      (FISH) probe combination, we analyzed 84 patients with acute myeloid leukemia 
      (AML), acute lymphoblastic leukemia, or myelodysplastic syndrome with either 
      normal karyotypes or 11p abnormalities to investigate whether there are 
      unidentified 11p15 rearrangements. Neither NUP98 translocations nor deletions 
      were identified in cases with normal karyotypes, indicating these aberrations may 
      be very rare in this group. However, NUP98 deletions were observed in four cases 
      with unbalanced 11p aberrations, indicating that the breakpoint is centromeric of 
      NUP98. Rearrangements of NUP98 were identified in two patients, both showing 11p 
      abnormalities in the diagnostic karyotype: a t(4;11)(q1?3;p15) with expression of 
      the NUP98-RAP1GDS1 fusion product detected in a 60-year-old woman with AML-M0, 
      and an add(11)(p15) with a der(21)t(11;21)(p15;p13) observed cytogenetically in a 
      1-year-old boy with AML-M7. JARID1A was identified as the fusion partner of NUP98 
      using 3' RACE, RT-PCR, and FISH. JARID1A, at 12p13, codes for retinoblastoma 
      binding protein 2, a protein implicated in transcriptional regulation. This is 
      the first report of JARID1A as a partner gene in leukemia.
CI  - 2006 Wiley-Liss, Inc
FAU - van Zutven, Laura J C M
AU  - van Zutven LJ
AD  - Department of Genetics, Centre for Biomedical Genetics, Erasmus MC, Rotterdam, 
      The Netherlands.
FAU - Onen, Emine
AU  - Onen E
FAU - Velthuizen, Sandra C J M
AU  - Velthuizen SC
FAU - van Drunen, Ellen
AU  - van Drunen E
FAU - von Bergh, Anne R M
AU  - von Bergh AR
FAU - van den Heuvel-Eibrink, Marry M
AU  - van den Heuvel-Eibrink MM
FAU - Veronese, Angelo
AU  - Veronese A
FAU - Mecucci, Cristina
AU  - Mecucci C
FAU - Negrini, Massimo
AU  - Negrini M
FAU - de Greef, Georgine E
AU  - de Greef GE
FAU - Beverloo, H Berna
AU  - Beverloo HB
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (DNA Primers)
RN  - 0 (Nuclear Pore Complex Proteins)
RN  - 0 (Nup98 protein, human)
SB  - IM
MH  - Acute Disease
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 12
MH  - DNA Primers
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Leukemia/*genetics
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Nuclear Pore Complex Proteins/*genetics
EDAT- 2006/01/19 09:00
MHDA- 2006/05/31 09:00
CRDT- 2006/01/19 09:00
PHST- 2006/01/19 09:00 [pubmed]
PHST- 2006/05/31 09:00 [medline]
PHST- 2006/01/19 09:00 [entrez]
AID - 10.1002/gcc.20308 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2006 May;45(5):437-46. doi: 10.1002/gcc.20308.