A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.

Journal article

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)

Authors: Jaju, R; Fidler, C; Haas, O; Strickson, A; Watkins, F

• Publication status: Published
• Journal: Blood
• Volume: 98
• Issue: 4
• Pages: 1264-1267
• Publication date: 2001-08-01
• DOI: 10.1182/blood.v98.4.1264
• EISSN: 1528-0020
• ISSN: 0006-4971
• Language: English
• Keywords: Base Sequence; Leukemia, Myeloid; Cytogenetic Analysis; Child; Carrier Proteins; Acute Disease; Translocation, Genetic; Molecular Sequence Data; Intracellular Signaling Peptides and Proteins; Nuclear Pore Complex Proteins; Chromosomes, Human, Pair 5; Chromosomes, Human, Pair 11; Humans; Membrane Proteins; Nuclear Proteins