Tuesday, November 4, 2014

proposed track in Neurofibromatosis: what we know about the FUS?

GO TO FOLLOW THE MONEY!

NF1----Ras---ERK---MAPK----Myc---Let-7---XPO5---ILF3----FUS---/TLS-RELA SPI-1

let-7 affects Exportin 5
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This FUS explain the diversity of sarcoma that may result:

According to Atlas of Genetics and Cytogenetics

" t(12;16)(q13;p11) chromosomal translocation. It produces the fusion protein FUS/ATF-1.
Disease Angiomatoid fibrous histiocytoma (AFH).
Hybrid/Mutated Gene FUS was interrupted at codon 175 (exon 5) and fused to codon 110 (exon 5) of ATF-1, resulting in an in-frame junction with a glycine to valine (GGT to GTT) transition.
  
Entity t(7;16)(q33;p11) chromosomal translocation. It produces the fusion protein FUS/CREB3L2 (also known as BBF2H7).
Disease Low grade fibromyxoid sarcoma (LGFMS).
Hybrid/Mutated Gene The breakpoints in the fusion transcripts are produced between the exons 6 or 7 of FUS and the exon 5 of CREB3L2.
  
Entity t(12;16)(q13;p11) chromosomal translocation. It produces the fusion protein FUS/DDIT3 (also known as CHOP).
Disease Myxoid liposarcoma (MLS).
Hybrid/Mutated Gene 9 different types of fusions between the genes FUS and DDIT3 have been reported. The most frequent rearragements join the exons 5, 7 or 8 of FUS with the exon 2 of DDIT3.
Oncogenesis The unequivocally relation between FUS/DDIT3 and the MLS was shown by the generation of a transgenic mouse model expressing FUS/DDIT3 from a housekeeping promoter.
  
Entity t(16;21)(p11;q22) chromosomal translocation. It produces the fusion protein FUS/ERG.
Disease Acute myeloid leukemia (AML).
Hybrid/Mutated Gene The junction of both genes is produced between the exons 6 or 7 of FUS and the exon 9 of ERG,or between the exon 8 of FUS and the exon 7 of ERG."   
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