Human Molecular Genetics Advance Access published online on July 22, 2003
Human Molecular Genetics, doi:10.1093/hmg/ddg237
© 2003 by Oxford University Press
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1 Department of Clinical Genetics, University Hospital, Lund, Sweden; DAPEG, Section of Genetics, University of Bari, Bari, Italy
* To whom correspondence should be addressed. E-mail: ioannis.panagopoulos{at}klingen.lu.se.
The FUSgene at 16p11 fuses with DDIT3and 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. BBF2H7spans 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
Article
Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma
2 Department of Clinical Genetics, University Hospital, Lund, Sweden
3 Division of Surgical Pathology, Mayo Clinic, Mayo Graduate School of Medicine, Rochester, USA
4 Department of Pathology, Karolinska Hospital, Stockholm, Sweden
5 Department of Orthopedics, Karolinska Hospital, Stockholm, Sweden
6 Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden
Abstract 
-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.
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