FUS (fusion involved in t (12;16) in malignant liposarcoma)

Description	526 amino acids (isoform with the exon 4a) or 525 aa (isoform with the exon 4b), 68 Kda. The protein contains different domains: a N-terminal SYQG-rich region; a RGG-rich region; a RNA binding domain; a RGG-rich region; a Cys2/Cys2-zinc finger motif and; a C-terminal RGG-rich region.
Expression	FUS is expressed in a housekeeping pattern.
Localisation	Nuclear, although FUS shuttles from the nucleus to the cytoplasm in a large complex that contains mRNA and hnRNPs.
Function	FUS is a RNA-binding protein that is identical to hnRNP P2 and may be implicated in mRNA metabolism. FUS seems to have a function as a heterogeneous ribonuclear protein (hnRNP)-like chaperone of RNA. In addition, it has been suggested that FUS might have a role in the BCR/ABL-mediated leukemogenesis.
Homology	FUS forms a sub-family of RNA binding proteins with EWS and RBP56/hTAFII68. FUS has homologous in mouse (fus), rat (pigpen) and Drosophila (Cabeza/SARFH).

Note	The FUS gene is implicated in several chromosomal translocations associated to both solid tumors and leukemias. The result of these chromosomal translocations are gene fusions. FUS contributes to these fusions with its N-terminal part, just before the RNA-binding domain. This domain confers to the fusion protein a transcriptional activation domain. These fusion genes generated as a result of chromosomal rearragements are used to monitor diagnosis and treatment.
Entity	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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