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Human Molecular Genetics Advance Access originally published online on July 22, 2003
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Human Molecular Genetics, 2003, Vol. 12, No. 18 2349-2358
DOI: 10.1093/hmg/ddg237
© 2003 Oxford University Press

Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma

Clelia Tiziana Storlazzi1,2, Fredrik Mertens1, Antonio Nascimento3, Margareth Isaksson1, Johan Wejde4, Otte Brosjö5, Nils Mandahl1 and Ioannis Panagopoulos1,*

1Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden, 2DAPEG, Section of Genetics, University of Bari, Bari, Italy, 3Division of Surgical Pathology, Mayo Clinic, Mayo Graduate School of Medicine, Rochester, New York, USA, 4Department of Pathology, Karolinska Hospital, Stockholm, Sweden and 5Department of Orthopedics, Karolinska Hospital, Stockholm, Sweden

Received May 23, 2003; Accepted July 8, 2003

The FUS gene at 16p11 fuses with DDIT3 and ATF1 as the result of translocations with chromosome band 12q13 in myxoid liposarcoma and angiomatoid fibrous histiocytoma, respectively, and with ERG as the result of a t(16;21)(p11;q22) in acute myeloid leukemia. We here show that a t(7;16)(q33;p11) in two cases of low grade fibromyxoid sarcoma fuses the FUS gene to BBF2H7, a previously uncharacterized gene that is homologous to the Drosophila Bbf-2 gene. BBF2H7 spans more than 120 kbp genomic DNA, is composed of 12 exons and contains a 1560 bp open reading frame. It codes for a 519 amino acid protein that contains a basic DNA binding and leucine zipper dimerization (B-ZIP) motif, highly similar to that in the OASIS, CREB-H, CREB4 and CREB3 transcription factors, followed by a hydrophobic region predicted to be an {alpha}-helical transmembrane domain. Reverse transcription–polymerase chain reaction (RT–PCR), using FUS forward and BBF2H7 reverse primers, amplified FUS/BBF2H7 chimeric transcripts composed of the first five exons and part of exon 6 of FUS and part of exon 5 and exons 6–12 of BBF2H7. The FUS/BBF2H7 chimera codes for a protein containing the N-terminus of FUS and the B-ZIP domain and the C-terminus of BBF2H7.

* To whom correspondence should be addressed. Tel: +46 46172889; Fax: +46 46131061; Email: ioannis.panagopoulos{at}klingen.lu.se


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