2026-04-13T18:28:29Zhttps://recercat.cat/oai/request
oai:recercat.cat:2445/1727622025-12-05T09:33:47Zcom_2072_1057col_2072_478799col_2072_478916col_2072_478917
RECERCAT author Court, Franck author Tayama, Chiharu author Romanelli, Valeria author Martín Trujillo, Alex author Iglesias Platas, Isabel author Okamura, Kohji author Sugahara, Naoko author Simón, Carlos author Moore, Harry author Harness, Julie V. author Keirstead, Hans author Sanchez-Mut, Jose Vicente author Kaneki, Eisuke author Lapunzina, Pablo author Soejima, Hidenobu author Wake, Norio author Esteller, Manel author Ogata, Tsutomu author Hata, Kenichiro author Nakabayashi, Kazuhiko author Monk, David 2020-12-18T14:56:57Z2020-12-18T14:56:57Z2014-04-012020-12-18T14:56:57Z Differential methylation between the two alleles of a gene has been observed in imprinted regions, where the methylation of one allele occurs on a parent-of-origin basis, the inactive X-chromosome in females, and at those loci whose methylation is driven by genetic variants. We have extensively characterized imprinted methylation in a substantial range of normal human tissues, reciprocal genome-wide uniparental disomies, and hydatidiform moles, using a combination of whole-genome bisulfite sequencing and high-density methylation microarrays. This approach allowed us to define methylation profiles at known imprinted domains at base-pair resolution, as well as to identify 21 novel loci harboring parent-of-origin methylation, 15 of which are restricted to the placenta. We observe that the extent of imprinted differentially methylated regions (DMRs) is extremely similar between tissues, with the exception of the placenta. This extra-embryonic tissue often adopts a different methylation profile compared to somatic tissues. Further, we profiled all imprinted DMRs in sperm and embryonic stem cells derived from parthenogenetically activated oocytes, individual blastomeres, and blastocysts, in order to identify primary DMRs and reveal the extent of reprogramming during preimplantation development. Intriguingly, we find that in contrast to ubiquitous imprints, the majority of placenta-specific imprinted DMRs are unmethylated in sperm and all human embryonic stem cells. Therefore, placental-specific imprinting provides evidence for an inheritable epigenetic state that is independent of DNA methylation and the existence of a novel imprinting mechanism at these loci. cc-by-nc (c) Court, Franck et al., 2014 http://creativecommons.org/licenses/by-nc/3.0/es info:eu-repo/semantics/openAccess ADN Metilació Genòmica Cèl·lules germinals DNA Methylation Genomics Germ cells Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion