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Mini-Review: Evolution of genome-wide methylation profiling technologies
- Carolina Montano and
- Winston Timp
Genome Res. April 2025 35: 572-582; doi:10.1101/gr.278407.123
...not only for clinical management but also for monitoring tumor risk associated with some imprinting disorders.View larger version: In this window In a new window Figure 2. Diagnostic applications of haplotype-aware methylation analysis. Haplotype assignment after phasing significantly enhances...
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Research: An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells
- Veronica Astro,
- Kelly Yojanna Cardona-Londoño,
- Lorena Viridiana Cortés-Medina,
- Rawan Alghamdi,
- Gustavo Ramírez-Calderón,
- Fotios Kefalas,
- Jair Dilmé-Capó,
- Santiago Radío,
- and Antonio Adamo
Genome Res. July 2025 35: 1503-1517; Published in Advance June 10, 2025, doi:10.1101/gr.279716.124
...methylation of the supernumerary X Chromosome could play a marginal role in regulating the global transcriptome at the pluripotent stage.MethodsFibroblast reprogramming into iPSCsFibroblasts were obtained from the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research (Supplemental...
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Research: Assessing DNA methylation detection for primary human tissue using Nanopore sequencing
- Rylee Genner,
- Stuart Akeson,
- Melissa Meredith,
- Pilar Alvarez Jerez,
- Laksh Malik,
- Breeana Baker,
- Abigail Miano-Burkhardt,
- CARD-long-read Team,
- Benedict Paten,
- Kimberley J. Billingsley,
- Cornelis Blauwendraat,
- and Miten Jain
Genome Res. April 2025 35: 632-643; Published in Advance March 7, 2025, doi:10.1101/gr.279159.124
.... 1987; Li et al. 2018), genomic imprinting (Li et al. 1993; Suzuki et al. 2007; Court et al. 2014), X-Chromosome inactivation (Sharp et al. 2011), and transcription repression (Moore et al. 2013). As a result, variations in DNA methylation have been associated with human diseases such as aging...
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Research: H3K27 and H3K9 methylation mask potential CTCF binding sites to maintain 3D genome integrity
- Kei Fukuda,
- Chikako Shimura,
- and Yoichi Shinkai
Genome Res. October 2025 35: 2199-2210; Published in Advance August 5, 2025, doi:10.1101/gr.280732.125
...in conditions where H3K9 methylation is low, such as in female primordial germ cells (Huang et al. 2021) or H3K9 methyltransferase-deficient cells (Fukuda et al. 2023). These findings may suggest that SUV39H1/2 and H3K27 methyltransferases also inhibit CTCF binding at transposons. To explore this, we examined...
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Research: Epigenetic drift score captures directional methylation variability and links aging to transcriptional, metabolic, and genetic alterations
- Xiu Fan,
- Qili Qian,
- Wenran Li,
- Tianzi Liu,
- Changqing Zeng,
- Peilin Jia,
- Huandong Lin,
- Xin Gao,
- Li Jin,
- Mingfeng Xia,
- Sijia Wang,
- and Fan Liu
Genome Res. October 2025 35: 2173-2188; Published in Advance August 1, 2025, doi:10.1101/gr.280155.124
...and stochastic accumulation of epigenetic changes, such as DNA methylation variability, with advancing age. Although increasingly recognized for its potential role in aging biology, its extent, biological significance, and population specificity remain insufficiently characterized. Here, we present the first...
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Research: Distinct classes of lamina-associated domains are defined by differential patterns of repressive histone methylation
- Caden J. Martin,
- Elizabeth A. Oser,
- Prabakaran Nagarajan,
- Liudmila V. Popova,
- Benjamin D. Sunkel,
- Benjamin Z. Stanton,
- and Mark R. Parthun
Genome Res. September 2025 35: 1959-1974; Published in Advance August 5, 2025, doi:10.1101/gr.280380.124
...&Tag to map a variety of histone PTMs, including the euchromatin marks H3K9ac, H3K14ac, and H3K27ac, facultative heterochromatin mark H3K27me3, and constitutive heterochromatin marks H3K9me2 and H3K9me3. We also used ChIP-seq to profile the H3K9 methylation binding protein CBX1.Scaling all LADs to a uniform...
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Research: Incomplete erasure of histone marks during epigenetic reprogramming in medaka early development
- Hiroto S. Fukushima,
- Hiroyuki Takeda,
- and Ryohei Nakamura
Genome Res. April 2023 33: 572-586; Published in Advance April 28, 2023, doi:10.1101/gr.277577.122
...and exists until zygotic activation (ZGA) (Dahl et al. 2016; Zhang et al. 2016). Additionally, the repressive mark H3K27me3 transmitted from oocytes regulates DNA methylation-independent imprinting in embryos (Inoue et al. 2017).Epigenetic reprogramming of nonmammalian vertebrates is largely distinct from...
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Research: Dynamic reversal of random X-Chromosome inactivation during iPSC reprogramming
- Adrian Janiszewski,
- Irene Talon,
- Joel Chappell,
- Samuel Collombet,
- Juan Song,
- Natalie De Geest,
- San Kit To,
- Greet Bervoets,
- Oskar Marin-Bejar,
- Caterina Provenzano,
- Lotte Vanheer,
- Jean-Christophe Marine,
- Florian Rambow,
- and Vincent Pasque
Genome Res. October 2019 29: 1659-1672; Published in Advance September 12, 2019, doi:10.1101/gr.249706.119
..., late, and very late during reprogramming. Early genes are activated before the onset of late pluripotency genes activation. Early genes are located genomically closer to genes that escape XCI, unlike genes reactivating late. Early genes also show increased pluripotency transcription factor (TF) binding...
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Method: TFcomb identifies transcription factor combinations for cellular reprogramming based on single-cell multiomics data
- Chen Li,
- Sijie Chen,
- Yixin Chen,
- Haiyang Bian,
- Minsheng Hao,
- Lei Wei,
- and Xuegong Zhang
Genome Res. June 2025 35: 1429-1439; Published in Advance April 10, 2025, doi:10.1101/gr.279955.124
...cell engineering.A major aspect of cell engineering is to artificially direct transitions of different cellular states, including reprogramming of somatic cells to pluripotent stem cells, directional differentiation of pluripotent stem cells to somatic cells, and directional conversions between somatic...
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Method: Privacy-preserving biological age prediction over federated human methylation data using fully homomorphic encryption
- Meir Goldenberg,
- Loay Mualem,
- Amit Shahar,
- Sagi Snir,
- and Adi Akavia
Genome Res. September 2024 34: 1324-1333; Published in Advance September 5, 2024, doi:10.1101/gr.279071.124
...@hotmail.com, akavia@cs.haifa.ac.ilAbstractDNA methylation data play a crucial role in estimating chronological age in mammals, offering real-time insights into an individual's aging process. The epigenetic pacemaker (EPM) model allows inference of the biological age as deviations from the population trend. Given...
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