PMID- 19166587
OWN - NLM
STAT- MEDLINE
DCOM- 20100615
LR  - 20211020
IS  - 1756-8722 (Electronic)
IS  - 1756-8722 (Linking)
VI  - 2
DP  - 2009 Jan 23
TI  - SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic 
      leukemia-derived cell lines.
PG  - 3
LID - 10.1186/1756-8722-2-3 [doi]
AB  - BACKGROUND: SET-NUP214 fusion resulting from a recurrent cryptic deletion, 
      del(9)(q34.11q34.13) has recently been described in T-cell acute lymphoblastic 
      leukemia (T-ALL) and in one case of acute myeloid leukemia (AML). The fusion 
      protein appears to promote elevated expression of HOXA cluster genes in T-ALL and 
      may contribute to the pathogenesis of the disease. We screened a panel of ALL and 
      AML cell lines for SET-NUP214 expression to find model systems that might help to 
      elucidate the cellular function of this fusion gene. RESULTS: Of 141 human 
      leukemia/lymphoma cell lines tested, only the T-ALL cell line LOUCY and the AML 
      cell line MEGAL expressed the SET(TAF-Ibeta)-NUP214 fusion gene transcript. 
      RT-PCR analysis specifically recognizing the alternative first exons of the two 
      TAF-I isoforms revealed that the cell lines also expressed TAF-Ialpha-NUP214 
      mRNA. Results of fluorescence in situ hybridization (FISH) and array-based copy 
      number analysis were both consistent with del(9)(q34.11q34.13) as described. 
      Quantitative genomic PCR also confirmed loss of genomic material between SET and 
      NUP214 in both cell lines. Genomic sequencing localized the breakpoints of the 
      SET gene to regions downstream of the stop codon and to NUP214 intron 17/18 in 
      both LOUCY and MEGAL cells. Both cell lines expressed the 140 kDa SET-NUP214 
      fusion protein. CONCLUSION: Cell lines LOUCY and MEGAL express the recently 
      described SET-NUP214 fusion gene. Of special note is that the formation of the 
      SET exon 7/NUP214 exon 18 gene transcript requires alternative splicing as the 
      SET breakpoint is located downstream of the stop codon in exon 8. The cell lines 
      are promising model systems for SET-NUP214 studies and should facilitate 
      investigating cellular functions of the the SET-NUP214 protein.
FAU - Quentmeier, Hilmar
AU  - Quentmeier H
AD  - DSMZ-German Collection of Microorganisms and Cell Cultures, Braunschweig, 
      Germany. hqu@dsmz.de
FAU - Schneider, Bjorn
AU  - Schneider B
FAU - Rohrs, Sonja
AU  - Rohrs S
FAU - Romani, Julia
AU  - Romani J
FAU - Zaborski, Margarete
AU  - Zaborski M
FAU - Macleod, Roderick A F
AU  - Macleod RA
FAU - Drexler, Hans G
AU  - Drexler HG
LA  - eng
PT  - Journal Article
DEP - 20090123
PL  - England
TA  - J Hematol Oncol
JT  - Journal of hematology & oncology
JID - 101468937
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Histone Chaperones)
RN  - 0 (NUP214 protein, human)
RN  - 0 (Nuclear Pore Complex Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (SET protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Base Sequence
MH  - Cell Line, Tumor
MH  - Cytogenetic Analysis
MH  - DNA-Binding Proteins
MH  - Gene Expression Regulation, Leukemic
MH  - Genetic Testing
MH  - Histone Chaperones/*genetics/metabolism
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics/metabolism/pathology
MH  - Models, Biological
MH  - Molecular Sequence Data
MH  - Nuclear Pore Complex Proteins/*genetics/metabolism
MH  - Oncogene Proteins, Fusion/*genetics/metabolism
MH  - Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/*genetics/metabolism/pathology
MH  - Sequence Analysis, DNA
MH  - Transcription Factors/*genetics/metabolism
PMC - PMC2636835
EDAT- 2009/01/27 09:00
MHDA- 2010/06/16 06:00
PMCR- 2009/01/23
CRDT- 2009/01/27 09:00
PHST- 2008/11/25 00:00 [received]
PHST- 2009/01/23 00:00 [accepted]
PHST- 2009/01/27 09:00 [entrez]
PHST- 2009/01/27 09:00 [pubmed]
PHST- 2010/06/16 06:00 [medline]
PHST- 2009/01/23 00:00 [pmc-release]
AID - 1756-8722-2-3 [pii]
AID - 10.1186/1756-8722-2-3 [doi]
PST - epublish
SO  - J Hematol Oncol. 2009 Jan 23;2:3. doi: 10.1186/1756-8722-2-3.