PMID- 12203785
OWN - NLM
STAT- MEDLINE
DCOM- 20021203
LR  - 20231213
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 35
IP  - 1
DP  - 2002 Sep
TI  - A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient 
      with myelodysplastic syndrome.
PG  - 11-9
AB  - ETV6/TEL is the first transcription factor identified that is specifically 
      required for hematopoiesis within the bone marrow. This gene has been found to 
      have multiple fusion partners of which 16 have been cloned. Fluorescence in situ 
      hybridization (FISH) analysis in a patient with myelodysplastic syndrome (MDS) 
      revealed a t(1;12)(p36;p13) involving ETV6, with the breakpoint in this gene 
      between exon 2 and exon 3. We report here the cloning of a novel ETV6 partner 
      located on 1p36.1, involved in the t(1;12). 3' RACE-PCR from RNA identified a 
      novel sequence fused to exon 2 of ETV6. Database searches localized this sequence 
      in a bacterial artificial chromosome (BAC) mapped to 1p36 by fingerprint 
      analysis. This result was confirmed by FISH using this BAC as probe. 5' and 3' 
      RACE experiments with primers from this novel sequence were carried out on RNA 
      from a healthy donor and identified a novel full-length mRNA, which we named MDS2 
      (myelodysplastic syndrome 2). RT-PCR experiments were performed on a panel of 
      human cDNAs to analyze the expression pattern of this gene and they revealed four 
      splicing variants. RT-PCR analysis showed that ETV6-MDS2, but not the reciprocal 
      MDS2-ETV6 fusion transcript, was expressed in the bone marrow of the patient. The 
      product of the ETV6-MDS2 fusion transcript predicts a short ETV6 protein 
      containing the first 54 amino acids of ETV6 plus four novel amino acids, lacking 
      both the PTN and the DNA-binding domains. Possible mechanisms to account for the 
      development of MDS in this patient are discussed.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Odero, Maria D
AU  - Odero MD
AD  - Department of Genetics, University of Navarra, Pamplona, Spain. modero@unav.es
FAU - Vizmanos, Jose L
AU  - Vizmanos JL
FAU - Roman, Jose P
AU  - Roman JP
FAU - Lahortiga, Idoya
AU  - Lahortiga I
FAU - Panizo, Carlos
AU  - Panizo C
FAU - Calasanz, Maria J
AU  - Calasanz MJ
FAU - Zeleznik-Le, Nancy J
AU  - Zeleznik-Le NJ
FAU - Rowley, Janet D
AU  - Rowley JD
FAU - Novo, Francisco J
AU  - Novo FJ
LA  - eng
SI  - GENBANK/AJ310434
PT  - Case Reports
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-Binding Proteins)
RN  - 0 (MDS2 protein, human)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proteins)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (RNA, Neoplasm)
RN  - 0 (Repressor Proteins)
SB  - IM
MH  - Aged
MH  - Amino Acid Sequence/genetics
MH  - Base Sequence/genetics
MH  - Bone Marrow Cells/metabolism/physiology
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Cloning, Molecular/methods
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Gene Expression Regulation, Neoplastic/genetics
MH  - Genes, Neoplasm/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Molecular Sequence Data
MH  - Myelodysplastic Syndromes/*genetics
MH  - Nuclear Proteins/genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Proteins/*genetics
MH  - Proto-Oncogene Proteins c-ets
MH  - RNA, Neoplasm/genetics
MH  - Repressor Proteins/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Translocation, Genetic/genetics
MH  - ETS Translocation Variant 6 Protein
EDAT- 2002/08/31 10:00
MHDA- 2002/12/04 04:00
CRDT- 2002/08/31 10:00
PHST- 2002/08/31 10:00 [pubmed]
PHST- 2002/12/04 04:00 [medline]
PHST- 2002/08/31 10:00 [entrez]
AID - 10.1002/gcc.10090 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2002 Sep;35(1):11-9. doi: 10.1002/gcc.10090.