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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)

Type

Journal article

Journal

Blood

Publication Date

15/08/2001

Volume

98

Pages

1264 - 1267

Keywords

Acute Disease, Base Sequence, Carrier Proteins, Child, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 5, Cytogenetic Analysis, Humans, Intracellular Signaling Peptides and Proteins, Leukemia, Myeloid, Membrane Proteins, Molecular Sequence Data, Nuclear Pore Complex Proteins, Nuclear Proteins, Translocation, Genetic