A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.
Blood
; 98(4): 1264-7, 2001 Aug 15.
Article
in En
| MEDLINE
| ID: mdl-11493482
ABSTRACT
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;981264-1267)
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Translocation, Genetic
/
Chromosomes, Human, Pair 5
/
Chromosomes, Human, Pair 11
/
Nuclear Proteins
/
Carrier Proteins
/
Leukemia, Myeloid
/
Nuclear Pore Complex Proteins
/
Intracellular Signaling Peptides and Proteins
/
Membrane Proteins
Type of study:
Etiology_studies
Limits:
Child
/
Humans
Language:
En
Journal:
Blood
Year:
2001
Document type:
Article
Affiliation country:
Reino Unido