BAP1 deficient human and mouse uveal melanomas up-regulate a shared EMT pathway

BAP1 loss in the GNAQ Q209L mouse uveal melanoma model is linked to fewer and smaller melanocytic lung lesions with Bap1flox/KO, but to macroscopic liver lesions with heterozygous loss.

• Why it matters: Monosomy 3 predicts worse uveal melanoma outcomes, yet how BAP1 second-hit status shapes tumor behavior across tissues and gene dosage remains unclear.
• What they did: The study used the GNAQ Q209L mouse UM model and transcriptomic profiling to compare Bap1 genotypes, including Bap1flox/KO and heterozygous loss, with human UM expression programs.
• The result: A shared BAP1-associated gene expression program in mouse and human UM was strongly enriched for epithelial-to-mesenchymal transition and apical junction pathways, implying BAP1 modulates tumor-cell behavior via EMT-related signaling.

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