The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
Open accessAbstract
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.
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Cites
Human DNA methylomes at base resolution show widespread epigenomic differences
Lister, R., Pelizzola, M., Dowen, R. H., Hawkins, R. D., Hon, G., Tonti-Filippini, J., Nery, J. R., Lee, L., Ye, Z., Ngo, Q.-M., et al. (2009) · Nature · doi:10.1038/nature08514 · Cited by 4,673
Distinct DNA methylomes of newborns and centenarians
Heyn, H., Li, N., Ferreira, H. J., Moran, S., Pisano, D. G., Gomez, A., Diez, J., Sanchez-Mut, J. V., Setien, F., Carmona, F. J., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1120658109 · Cited by 802
Self-citationCpG islands influence chromatin structure via the CpG-binding protein Cfp1
Thomson, J. P., Skene, P. J., Selfridge, J., Clouaire, T., Guy, J., Webb, S., Kerr, A. R. W., Deaton, A., Andrews, R., James, K. D., et al. (2010) · Nature · doi:10.1038/nature08924 · Cited by 625
Parental origin of sequence variants associated with complex diseases
DIAGRAM Consortium, Kong, A., Steinthorsdottir, V., Masson, G., Thorleifsson, G., Sulem, P., Besenbacher, S., Jonasdottir, A., Sigurdsson, A., Kristinsson, K. T., et al. (2009) · Nature · doi:10.1038/nature08625 · Cited by 553
Xie, W., Barr, C. L., Kim, A., Yue, F., Lee, A. Y., Eubanks, J., Dempster, E. L., & Ren, B. (2012) · Cell · doi:10.1016/j.cell.2011.12.035 · Cited by 543
Prader–Willi syndrome and Angelman syndrome
Buiting, K. (2010) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30273 · Cited by 336
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Cited by
DNA methylation in newborns and maternal smoking in pregnancy: genome-wide consortium meta-analysis
Joubert, B. R., Felix, J. F., Yousefi, P., Bakulski, K. M., Just, A. C., Breton, C., Reese, S. E., Markunas, C. A., Richmond, R. C., Xu, C.-J., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.019 · Cited by 886
Single-cell DNA methylome sequencing of human preimplantation embryos
Zhu, P., Guo, H., Ren, Y., Hou, Y., Dong, J., Li, R., Lian, Y., Fan, X., Hu, B., Gao, Y., et al. (2018) · Nature Genetics · doi:10.1038/s41588-017-0007-6 · Cited by 336
Epigenetic resetting of human pluripotency
Guo, G., von Meyenn, F., Rostovskaya, M., Clarke, J., Dietmann, S., Baker, D., Sahakyan, A., Myers, S., Bertone, P., Reik, W., et al. (2017) · Development · doi:10.1242/dev.146811 · Cited by 319
The role and interaction of imprinted genes in human fetal growth
Moore, G. E., Ishida, M., Demetriou, C., Al-Olabi, L., Leon, L. J., Thomas, A. C., Abu-Amero, S., Frost, J. M., Stafford, J. L., Chaoqun, Y., et al. (2015) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2014.0074 · Cited by 155
Self-citationAge-related DNA methylation changes are sex-specific: a comprehensive assessment
Yusipov, I., Bacalini, M. G., Kalyakulina, A., Krivonosov, M., Pirazzini, C., Gensous, N., Ravaioli, F., Milazzo, M., Giuliani, C., Vedunova, M., et al. (2020) · Aging · doi:10.18632/aging.202251 · Cited by 148
Metadata
- Authors
- Court, F., Tayama, C., Romanelli, V., Martin-Trujillo, A., Iglesias-Platas, I., Okamura, K., Sugahara, N., Simón, C., Moore, H., Harness, J. V., Keirstead, H., Sanchez-Mut, J. V., Kaneki, E., Lapunzina, P., Soejima, H., Wake, N., Esteller, M., Ogata, T., Hata, K., Nakabayashi, K., & Monk, D.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2014-01-08
- Volume
- 24
- Issue
- 4
- Pages
- 554-569
- ISSN
- 1088-9051 (ISSN-L)
- OpenAlex
- W2060967135
- Cited by
- 359
- References
- 7
- Type
- posted content
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. https://app.cochat.ai/papers/10.1101/gr.164913.113
- The paper
- Court, F., Tayama, C., Romanelli, V., Martin-Trujillo, A., Iglesias-Platas, I., Okamura, K., Sugahara, N., Simón, C., Moore, H., Harness, J. V., Keirstead, H., Sanchez-Mut, J. V., Kaneki, E., Lapunzina, P., Soejima, H., Wake, N., Esteller, M., Ogata, T., Hata, K., . . . Monk, D. (2014). Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Research. https://doi.org/10.1101/gr.164913.113
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