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oai:recercat.cat:2445/1221642025-12-05T09:34:30Zcom_2072_1057col_2072_478799col_2072_478916col_2072_478917

urn:hdl:2445/122164 Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors Martín Trujillo, Alex Vidal, Enrique Monteagudo Sánchez, Ana Sánchez Delgado, Marta Moran, Sebastian Hernandez Mora, Jose Ramon Heyn, Holger Guitart, Miriam Esteller, Manel Monk, David Variació en el nombre de còpies Epigenètica Metilació Tumors Càncer Copy number variation Epigenetics Methylation Tumors Cancer It has been postulated that imprinting aberrations are common in tumors. To understand the role of imprinting in cancer, we have characterized copy-number and methylation in over 280 cancer cell lines and confirm our observations in primary tumors. Imprinted differentially methylated regions (DMRs) regulate parent-of-origin monoallelic expression of neighboring transcripts in cis. Unlike single-copy CpG islands that may be prone to hypermethylation, imprinted DMRs can either loose or gain methylation during tumorigenesis. Here, we show that methylation profiles at imprinted DMRs often not represent genuine epigenetic changes but simply the accumulation of underlying copy-number aberrations (CNAs), which is independent of the genome methylation state inferred from cancer susceptible loci. Our results reveal that CNAs also influence allelic expression as loci with copy-number neutral loss-of-heterozygosity or amplifications may be expressed from the appropriate parental chromosomes, which is indicative of maintained imprinting, although not observed as a single expression foci by RNA FISH. 2018-05-08T09:02:34Z 2018-05-08T09:02:34Z 2017-09-07 2018-05-08T09:02:34Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Reproducció del document publicat a: https://doi.org/10.1038/s41467-017-00639-9 Nature Communications, 2017, vol. 8, p. 467 https://doi.org/10.1038/s41467-017-00639-9 cc-by (c) Martin-Trujillo, Alejandro et al., 2017 http://creativecommons.org/licenses/by/3.0/es info:eu-repo/semantics/openAccess Nature Publishing Group Articles publicats en revistes (Ciències Fisiològiques)