The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1
✍ Scribed by Claire Hidalgo-Curtis; Andrew Chase; Milton Drachenberg; Mark W. Roberts; Jerry Z. Finkelstein; Sarah Mould; David Oscier; Nicholas C. P. Cross; Francis H. Grand
- Book ID
- 102221448
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 216 KB
- Volume
- 47
- Category
- Article
- ISSN
- 1045-2257
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✦ Synopsis
Abstract
We have investigated two patients with acquired chromosomal rearrangements, a male presenting with a t(1;9)(p34;q34) and B cell progenitor acute lymphoid leukemia and a female presenting with a t(8;12)(p11;q15) and the 8p11 myeloproliferative syndrome. We determined that the t(1;9) fused ABL to SFPQ (also known as PSF), a gene mapping to 1p34 that encodes a polypyrimidine tract‐binding protein‐associated splicing factor. The t(8;12) fused CPSF6, a cleavage and polyadenylation specificity factor, to FGFR1. The fusions were confirmed by amplification of the genomic breakpoints and RT‐PCR. The predicted oncogenic products of these fusions, SFPQ‐ABL and CPSF6‐FGFR1, are in‐frame and encode the N‐terminal domain of the partner protein and the entire tyrosine kinase domain and C‐terminal sequences of ABL and FGFR1. SFPQ interacts with two FGFR1 fusion partners, ZNF198 and CPSF6, that are functionally related to the recurrent PDGFRα partner FIP1L1. Our findings thus identify a group of proteins that are important for pre‐mRNA processing as fusion partners for tyrosine kinases in hematological malignancies. © 2008 Wiley‐Liss, Inc.