PMID- 11493482
OWN - NLM
STAT- MEDLINE
DCOM- 20010920
LR  - 20210216
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 98
IP  - 4
DP  - 2001 Aug 15
TI  - A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo 
      childhood acute myeloid leukemia.
PG  - 1264-7
AB  - The recurrent translocation t(5;11)(q35;p15.5) associated with a 5q deletion, 
      del(5q), has been reported in childhood acute myeloid leukemia (AML). We report 
      the cloning of the translocation breakpoints in de novo childhood AML harboring a 
      cryptic t(5;11)(q35;p15.5). Fluorescence in situ hybridization (FISH) analysis 
      demonstrated that the nucleoporin gene (NUP98) at 11p15.5 was disrupted by this 
      translocation. By using 3'--rapid amplification of complementary DNA ends 
      (3'-RACE) polymerase chain reaction, we identified a chimeric messenger RNA that 
      results in the in-frame fusion of NUP98 to a novel gene, NSD1. The NSD1 gene has 
      2596 amino acid residues and a 85% homology to the murine Nsd1 with the domain 
      structure being conserved. The NSD1 gene was localized to 5q35 by FISH and is 
      widely expressed. The reciprocal transcript, NSD1-NUP98, was also detected by 
      reverse transcriptase--polymerase chain reaction. This is the first report in 
      which the novel gene NSD1 has been implicated in human malignancy. (Blood. 
      2001;98:1264-1267)
FAU - Jaju, R J
AU  - Jaju RJ
AD  - LRF Molecular Haematology Unit, Nuffield Department of Clinical Laboratory 
      Sciences, University of Oxford, United Kingdom. rina.jaju@ndcls.ox.ac.uk
FAU - Fidler, C
AU  - Fidler C
FAU - Haas, O A
AU  - Haas OA
FAU - Strickson, A J
AU  - Strickson AJ
FAU - Watkins, F
AU  - Watkins F
FAU - Clark, K
AU  - Clark K
FAU - Cross, N C
AU  - Cross NC
FAU - Cheng, J F
AU  - Cheng JF
FAU - Aplan, P D
AU  - Aplan PD
FAU - Kearney, L
AU  - Kearney L
FAU - Boultwood, J
AU  - Boultwood J
FAU - Wainscoat, J S
AU  - Wainscoat JS
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
RN  - 0 (Carrier Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Nuclear Pore Complex Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (nuclear pore complex protein 98)
RN  - EC 2.1.1.- (Histone Methyltransferases)
RN  - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
RN  - EC 2.1.1.43 (NSD1 protein, human)
SB  - IM
CIN - Blood. 2002 Feb 1;99(3):1097-8. PMID: 11822362
MH  - Acute Disease
MH  - Base Sequence
MH  - Carrier Proteins/*genetics
MH  - Child
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 5
MH  - Cytogenetic Analysis
MH  - Histone Methyltransferases
MH  - Histone-Lysine N-Methyltransferase
MH  - Humans
MH  - *Intracellular Signaling Peptides and Proteins
MH  - Leukemia, Myeloid/etiology/*genetics
MH  - Membrane Proteins/*genetics
MH  - Molecular Sequence Data
MH  - *Nuclear Pore Complex Proteins
MH  - Nuclear Proteins/*genetics
MH  - *Translocation, Genetic
EDAT- 2001/08/09 10:00
MHDA- 2001/09/21 10:01
CRDT- 2001/08/09 10:00
PHST- 2001/08/09 10:00 [pubmed]
PHST- 2001/09/21 10:01 [medline]
PHST- 2001/08/09 10:00 [entrez]
AID - S0006-4971(20)63151-2 [pii]
AID - 10.1182/blood.v98.4.1264 [doi]
PST - ppublish
SO  - Blood. 2001 Aug 15;98(4):1264-7. doi: 10.1182/blood.v98.4.1264.