PMID- 10477737
OWN - NLM
STAT- MEDLINE
DCOM- 19991012
LR  - 20210216
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 94
IP  - 6
DP  - 1999 Sep 15
TI  - The (4;11)(q21;p15) translocation fuses the NUP98 and RAP1GDS1 genes and is
      recurrent in T-cell acute lymphocytic leukemia.
PG  - 2072-9
AB  - We determined the breakpoint genes of the translocation t(4;11)(q21;p15) that
      occurred in a case of adult T-cell acute lymphocytic leukemia (T-ALL). The
      chromosome 11 breakpoint was mapped to the region between D11S470 and D11S860.
      The nucleoporin 98 gene (NUP98), which is rearranged in several acute myeloid
      leukemia translocations, is located within this region. Analysis of somatic cell 
      hybrids segregating the translocation chromosomes showed that the chromosome 11
      breakpoint occurs within NUP98. The fusion partner of NUP98 was identified as the
      RAP1GDS1 gene using 3' RACE. RAP1GDS1 codes for smgGDS, a ubiquitously expressed 
      guanine nucleotide exchange factor that stimulates the conversion of the inactive
      GDP-bound form of several ras family small GTPases to the active GTP-bound form. 
      In the NUP98-RAP1GDS1 fusion transcript (abbreviated as NRG), the 5' end of the
      NUP98 gene is joined in frame to the coding region of the RAP1GDS1 gene. This
      joins the FG repeat-rich region of NUP98 to RAP1GDS1, which largely consists of
      tandem armadillo repeats. NRG fusion transcripts were detected in the leukemic
      cells of 2 other adult T-ALL patients. One of these patients had a variant
      translocation with a more 5' breakpoint in NUP98. This is the first report of an 
      NUP98 translocation in lymphocytic leukemia and the first time that RAP1GDS1 has 
      been implicated in any human malignancy.
FAU - Hussey, D J
AU  - Hussey DJ
AD  - Department of Haematology-Oncology, University of Adelaide, The Queen Elizabeth
      Hospital, Woodville, Australia.
FAU - Nicola, M
AU  - Nicola M
FAU - Moore, S
AU  - Moore S
FAU - Peters, G B
AU  - Peters GB
FAU - Dobrovic, A
AU  - Dobrovic A
LA  - eng
SI  - GENBANK/AF133331
SI  - GENBANK/AF133333
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
RN  - 0 (Genetic Markers)
RN  - 0 (Guanine Nucleotide Exchange Factors)
RN  - 0 (Membrane Proteins)
RN  - 0 (Nuclear Pore Complex Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (nuclear pore complex protein 98)
RN  - 0 (ras Guanine Nucleotide Exchange Factors)
RN  - EC 3.6.1.- (GTP-Binding Proteins)
RN  - EC 3.6.5.2 (rap GTP-Binding Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Child
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 4
MH  - Female
MH  - GTP-Binding Proteins/*genetics
MH  - Genetic Markers
MH  - Guanine Nucleotide Exchange Factors
MH  - Humans
MH  - Immunophenotyping
MH  - Karyotyping
MH  - Leukemia-Lymphoma, Adult T-Cell/*genetics/immunology
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - *Nuclear Pore Complex Proteins
MH  - Nuclear Proteins/*genetics
MH  - Organ Specificity
MH  - Polymerase Chain Reaction
MH  - Proteins/*genetics
MH  - Proto-Oncogene Proteins/genetics
MH  - Transcription, Genetic
MH  - *Translocation, Genetic
MH  - rap GTP-Binding Proteins
MH  - ras Guanine Nucleotide Exchange Factors
EDAT- 1999/09/09 00:00
MHDA- 1999/09/09 00:01
CRDT- 1999/09/09 00:00
PHST- 1999/09/09 00:00 [pubmed]
PHST- 1999/09/09 00:01 [medline]
PHST- 1999/09/09 00:00 [entrez]
AID - S0006-4971(20)48915-3 [pii]
PST - ppublish
SO  - Blood. 1999 Sep 15;94(6):2072-9.