We have identified an antigen recognized on a human melanoma by autologous cytolytic T lymphocytes. It is encoded by a gene that is expressed in many normal tissues. Remarkably, the sequence coding for the antigenic peptide is located across an exon-intron junction. A point mutation is present in the intron that generates an amino acid change that is essential for the recognition of the peptide by the anti-tumor cytotoxic T lymphocytes. This observation suggests that the T-cell-mediated surveillance of the integrity of the genome may extend to some intronic regions.
Coulie, P., Lehmann, F., Lethé, B., Lurquin, C., Andrawiss, M., Boon, T., & Herman, J. (1995). A mutated intron sequence codes for an antigenic peptide recognized by cytolytic T lymphocytes on a human melanoma. Proceedings of the National Academy of Sciences of the United States of America, 92(17), 7976-7980. https://doi.org/10.1073/pnas.92.17.7976 (Original work published 1995)