Details

Autor(en) / Beteiligte

• Jaju, Rina J.
• Fidler, Carrie
• Haas, Oskar A.
• Strickson, Amanda J.
• Watkins, Fiona
• Clark, Kevin
• Cross, Nicholas C.P.
• Cheng, Jan-Fang
• Aplan, Peter D.
• Kearney, Lyndal
• Boultwood, Jacqueline
• Wainscoat, James S.

Titel

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

Ist Teil von

• Blood, 2001-08, Vol.98 (4), p.1264-1267

Ort / Verlag

Washington, DC: Elsevier Inc

Erscheinungsjahr

2001

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 NUP98to a novel gene, NSD1. The NSD1 gene has 2596 amino acid residues and a 85% homology to the murine Nsd1with 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.