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

In English

Författare

Summary, in English

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.

Publiceringsår

2003-09-15

Språk

Engelska

Sidor

2349-2358

Publikation/Tidskrift/Serie

Human Molecular Genetics

Volym

12

Issue

18

Dokumenttyp

Artikel i tidskrift

Förlag

Oxford University Press

Ämne

  • Medical Genetics
  • Cancer and Oncology

Nyckelord

  • 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

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 0964-6906