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

• 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Keyword

Adolescent

Adult

Amino Acid Sequence

Artificial Gene Fusion

Base Sequence

Chromosomes, Human, Pair 16

Chromosomes, Human, Pair 7

Dimerization

Exons

Female

Humans

Hydrophobic and Hydrophilic Interactions

In Situ Hybridization, Fluorescence

Leucine Zippers

Liposarcoma, Myxoid

Male

Molecular Sequence Data

Open Reading Frames

Protein Structure, Secondary

Protein Structure, Tertiary

RNA-Binding Protein FUS

Recombinant Fusion Proteins

Reverse Transcriptase Polymerase Chain Reaction

Sequence Homology, Amino Acid

Translocation, Genetic

Case Reports

Journal Article

Research Support, Non-U.S. Gov't

Publication and Content Type

art (subject category)

ref (subject category)