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Title: Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors
Author: Martin-Trujillo, Alejandro
Vidal, Enrique
Monteagudo-Sánchez, Ana
Sanchez-Delgado, Marta
Moran, Sebastian
Hernandez Mora, Jose Ramon
Heyn, Holger
Guitart, Miriam
Esteller, Manel
Monk, David
Keywords: Variació en el nombre de còpies
Copy number variation
Issue Date: 7-Sep-2017
Publisher: Nature Publishing Group
Abstract: 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.
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It is part of: Nature Communications, 2017, vol. 8, p. 467
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ISSN: 2041-1723
Appears in Collections:Articles publicats en revistes (Ciències Fisiològiques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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