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Title: A DNA methylation fingerprint of 1628 human samples
Author: Fernández, Agustín F.
Martín-Subero, José Ignacio
Hidalgo, Manuel
Ferrer, Isidro (Ferrer Abizanda)
Sánchez Céspedes, Montserrat
Villanueva Garatachea, Alberto
Carmona, F. Javier
Sanchez-Mut, Jose Vicente
Berdasco, María
Moreno Aguado, Víctor
Capellá, G. (Gabriel)
Ballestar Tarín, Esteban
Pérez Jurado, Luis
Mora Graupera, Jaume
Puig i Sardà, Susana
Prat, Jaime
Badimón, Lina, 1953-
Esteller, Manel
Keywords: Metilació
Genètica bioquímica
Patologia cel·lular
Biochemical genetics
Cellular pathology
Issue Date: Feb-2012
Publisher: Cold Spring Harbor Laboratory Press
Abstract: Most of the studies characterizing DNA methylation patterns have been restricted to particular genomic loci in a limited number of human samples and pathological conditions. Herein, we present a compromise between an extremely comprehensive study of a human sample population with an intermediate level of resolution of CpGs at the genomic level. We obtained a DNA methylation fingerprint of 1628 human samples in which we interrogated 1505 CpG sites. The DNA methylation patterns revealed show this epigenetic mark to be critical in tissue-type definition and stemness, particularly around transcription start sites that are not within a CpG island. For disease, the generated DNA methylation fingerprints show that, during tumorigenesis, human cancer cells underwent a progressive gain of promoter CpG-island hypermethylation and a loss of CpG methylation in non-CpG-island promoters. Although transformed cells are those in which DNA methylation disruption is more obvious, we observed that other common human diseases, such as neurological and autoimmune disorders, had their own distinct DNA methylation profiles. Most importantly, we provide proof of principle that the DNA methylation fingerprints obtained might be useful for translational purposes by showing that we are able to identify the tumor type origin of cancers of unknown primary origin (CUPs). Thus, the DNA methylation patterns identified across the largest spectrum of samples, tissues, and diseases reported to date constitute a baseline for developing higher-resolution DNA methylation maps and provide important clues concerning the contribution of CpG methylation to tissue identity and its changes in the most prevalent human diseases
Note: Reproducció del document publicat a:
It is part of: Genome Research, 2012, vol. 22, num. 2, p. 407-419
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ISSN: 1088-9051
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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