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. 2016 Nov 19;38(7):671–679. doi: 10.1093/carcin/bgw120

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Figure 1. — Splice variants of MUC1 and MUC4. Mucins are large-molecular-weight glycoproteins expressed at the apical surface of epithelial cells and consist of multiple functional domains [Tandem repeat (), NIDO (), EGF (), AMOP (), SEA () and cytoplasmic tail ()] capable of interacting with multiple proteins, including cell surface receptors, ECM proteins, signaling molecules and nuclear proteins. Transmembrane MUC1 and MUC4 have multiple Svs, which are generated due to exclusion and inclusion of exon/introns, exon skipping and the complete or partial retention of introns, and the use of alternative 5′ and 3′ splice sites. The expression of predominant MUC1 splice variants are demonstrated along with the loss and gain of major functional domains. The MUC1 Svs have been implicated in the cancer pathology, inflammatory disorders and immune modulation. Similarly, the 24 splice variants identified for MUC4 are expressed in a variety of tissues, some of which are specifically expressed under pathological conditions (sv10 is only detected in the pancreatic cancer). MUC4 Svs are depicted along with the mechanisms leading to their generation and the loss and gain of major functional domains. Recent studies have demonstrated the critical role of MUC4/X and MUC4/Y Svs in pancreatic cancer progression and metastasis.

Inline graphic — Splice variants of MUC1 and MUC4. Mucins are large-molecular-weight glycoproteins expressed at the apical surface of epithelial cells and consist of multiple functional domains [Tandem repeat (), NIDO (), EGF (), AMOP (), SEA () and cytoplasmic tail ()] capable of interacting with multiple proteins, including cell surface receptors, ECM proteins, signaling molecules and nuclear proteins. Transmembrane MUC1 and MUC4 have multiple Svs, which are generated due to exclusion and inclusion of exon/introns, exon skipping and the complete or partial retention of introns, and the use of alternative 5′ and 3′ splice sites. The expression of predominant MUC1 splice variants are demonstrated along with the loss and gain of major functional domains. The MUC1 Svs have been implicated in the cancer pathology, inflammatory disorders and immune modulation. Similarly, the 24 splice variants identified for MUC4 are expressed in a variety of tissues, some of which are specifically expressed under pathological conditions (sv10 is only detected in the pancreatic cancer). MUC4 Svs are depicted along with the mechanisms leading to their generation and the loss and gain of major functional domains. Recent studies have demonstrated the critical role of MUC4/X and MUC4/Y Svs in pancreatic cancer progression and metastasis.