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Method: Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation
- Sophia N. Lee,
- Erin C. Banda,
- Lu Qiao,
- Sarah L. Thompson,
- Karan Singh,
- Ryan A. Hagenson,
- Teresa Davoli,
- Stefan F. Pinter,
- and Jason M. Sheltzer
Genome Res. March 2026 36: 547-560; Published in Advance January 12, 2026, doi:10.1101/gr.280425.125
...genetically eliminated from human cells. Aneuploidy is associated with both genetic variability (e.g., in the size of the duplicated and deletion region on Chromosome 8p) (Okur et al. 2021) as well as nongenetic variability (e.g., owing to stochastic differences in cell signaling that impact the robustness...
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Research: Cell-type- and chromosome-specific chromatin landscapes and DNA replication programs of Drosophila testis tumor stem cell–like cells
- Jennifer A. Urban,
- Daniel Ringwalt,
- John M. Urban,
- Wingel Xue,
- Ryan Gleason,
- Keji Zhao,
- and Xin Chen
Genome Res. January 2026 36: 83-101; Published in Advance December 10, 2025, doi:10.1101/gr.280809.125
...chromatin modification. (B) The log2FE of H3K4me3, H3K27me3, and H3K9me3 along the euchromatic arms and pericentromeric region of Chromosome 2. Enrichment tracks from GSC-like cells are in green, whereas the tracks associated with CySC-like cells are in magenta. The distance between each mark along the x...
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Research: Genome-wide patterns of selection–drift variation strongly associate with organismal traits across the green plant lineage
- Kavitha Uthanumallian,
- Andrea Del Cortona,
- Susana M. Coelho,
- Olivier De Clerck,
- Sebastian Duchene,
- and Heroen Verbruggen
Genome Res. August 2024 34: 1130-1139; Published in Advance August 29, 2024, doi:10.1101/gr.279002.124
...(unicellular) ancestors to large, more complex (multicellular) forms on many occasions (Cock et al. 2014; Sebé-Pedrós et al. 2017; De Clerck et al. 2018; Umen and Herron 2021). An increase in structural complexity is associated with increases in body mass and size, which usually coincides with a substantial...
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Research: Identification of the male-specific region on the guppy Y Chromosome from a haplotype-resolved assembly
- Kang Du,
- Oliver Deusch,
- Ilja Bezrukov,
- Christa Lanz,
- Yann Guiguen,
- Margarete Hoffmann,
- Anette Habring,
- Detlef Weigel,
- Manfred Schartl,
- and Christine Dreyer
Genome Res. March 2025 35: 489-498; Published in Advance March 5, 2025, doi:10.1101/gr.279582.124
...degeneration has not progressed to a measurable degree.Sex chromosomes evolve differently from the rest of the owing to reduced recombination. This process generates on Y Chromosomes a male-specific region (MSY) that is diverging in sequence and structural organization from the homologous region on the X...
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Research: Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
- Kiana Mohajeri,
- Stuart Cantsilieris,
- John Huddleston,
- Bradley J. Nelson,
- Bradley P. Coe,
- Catarina D. Campbell,
- Carl Baker,
- Lana Harshman,
- Katherine M. Munson,
- Zev N. Kronenberg,
- Milinn Kremitzki,
- Archana Raja,
- Claudia Rita Catacchio,
- Tina A. Graves,
- Richard K. Wilson,
- Mario Ventura,
- and Evan E. Eichler
Genome Res. November 2016 26: 1453-1467; Published in Advance October 7, 2016, doi:10.1101/gr.211284.116
...to the same interchromosomal core involved in the evolutionary formation of the duplication blocks. Our results define a higher-order genomic instability element that has shaped the structure of specific chromosomes during primate evolution contributing to rearrangements associated with inversion and disease...
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Research: Mitotic chromosomes harbor cell type– and species-specific structural features within a universal loop array conformation
- Marlies E. Oomen,
- A. Nicole Fox,
- Inma Gonzalez,
- Amandine Molliex,
- Thaleia Papadopoulou,
- Pablo Navarro,
- and Job Dekker
Genome Res. August 2025 35: 1733-1744; Published in Advance June 6, 2025, doi:10.1101/gr.280648.125
...these findings. We then investigate roles of mitotically bookmarked CTCF in prometaphase chromosome organization by Hi-C. We do not find any remaining interphase structures, such as TADs or loops, at bookmarked CTCF sites in mESCs. This suggests that mitotic loop extruders condensin I and II are not blocked...
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Method: FocalSV enables target region–based structural variant assembly and refinement using single-molecule long-read sequencing data
- Can Luo,
- Zimeng Jamie Zhou,
- Yichen Henry Liu,
- and Xin Maizie Zhou
Genome Res. October 2025 35: 2252-2272; Published in Advance August 13, 2025, doi:10.1101/gr.280282.124
...abundant form of genetic variation in humans and can be efficiently detected using short-read sequencing technologies. Therefore, -wide association studies (GWASs) have primarily focused on SNVs to investigate the genetic basis of phenotypic traits. In contrast, structural variants (SVs)—larger genomic...
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Research: The grasshopper genome reveals long-term gene content conservation of the X Chromosome and temporal variation in X Chromosome evolution
- Xinghua Li,
- Judith E. Mank,
- and Liping Ban
Genome Res. July 2024 34: 997-1007; Published in Advance August 5, 2024, doi:10.1101/gr.278794.123
...invertebrates and vertebrates (Nguyen and Disteche 2006; Rupp et al. 2016; Darolti et al. 2019; Huylmans et al. 2019; Hu et al. 2022; Metzger et al. 2023). Although dosage compensation is nearly always associated with high degrees of sex chromosome heterogamety, not all cases of heterogametic sex chromosomes...
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Research: Candida albicans isolates contain frequent heterozygous structural variants and transposable elements within genes and centromeres
- Ursula Oggenfuss,
- Robert T. Todd,
- Natthapon Soisangwan,
- Bailey Kemp,
- Alison Guyer,
- Annette Beach,
- and Anna Selmecki
Genome Res. April 2025 35: 824-838; Published in Advance October 22, 2024, doi:10.1101/gr.279301.124
...). These two centromeres contain long inverted repeat sequences that are likely involved in nonallelic homologous recombination resulting in the isochromosome structure (Sanyal et al. 2004; Burrack et al. 2013; Todd et al. 2019).Centromeres faithfully segregate chromosomes during cell division. Within...
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Research: Proteome-wide structural analysis quantifies structural conservation across distant species
- Shijie Zhang,
- Teng Zhang,
- and Yuan Fu
Genome Res. November 2023 33: 1975-1993; Published in Advance November 22, 2023, doi:10.1101/gr.277771.123
...into single domains based on the predicted alignment error matrix generated by AlphaFold2. An example of the structure trimming is depicted in Figure 1, A and B, in which human HMGB1, an abundant architectural chromosomal protein, was separated into two HMG box domains. The predicted aligned error (PAE...

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