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Unknown,Transcriptomics,Genomics,Proteomics

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Transcriptomic analyses of primary uveal melanomas

ABSTRACT: SF3B1 is coding an essential splicing factor. This gene was found recurrently mutated in uveal melanoma. To understand the consequences of these hotspot SF3B1 mutations, we performed high coverage RNA-seq on 74 primary uveal melanomas, which were treated by primary enucleation. We analyzed data for aberrant splicing in relation with SF3B1 status.

INSTRUMENT(S): Illumina HiSeq 2500

ORGANISM(S): Homo sapiens

SUBMITTER: Marc-Henri Stern

PROVIDER: E-MTAB-4097 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage.

Alsafadi Samar S Houy Alexandre A Battistella Aude A Popova Tatiana T Wassef Michel M Henry Emilie E Tirode Franck F Constantinou Angelos A Piperno-Neumann Sophie S Roman-Roman Sergio S Dutertre Martin M Stern Marc-Henri MH

Nature communications 20160204

Hotspot mutations in the spliceosome gene SF3B1 are reported in ∼20% of uveal melanomas. SF3B1 is involved in 3'-splice site (3'ss) recognition during RNA splicing; however, the molecular mechanisms of its mutation have remained unclear. Here we show, using RNA-Seq analyses of uveal melanoma, that the SF3B1(R625/K666) mutation results in deregulated splicing at a subset of junctions, mostly by the use of alternative 3'ss. Modelling the differential junctions in SF3B1(WT) and SF3B1(R625/K666) cel ...[more]

PMID: 26842708

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