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Method: Exon Nomenclature And Classification of Transcripts (ENACT) provides a systematic framework to annotate exon attributes
- Paras Verma,
- Deeksha Thakur,
- Deepanshi Awasthi,
- and Shashi Bhushan Pandit
Genome Res. June 2025 35: 1440-1455; Published in Advance May 7, 2025, doi:10.1101/gr.279878.124
...of specific exons, creating multiple splice variants within isoforms. ATR, on the other hand, introduces or limits exon content through different promoters or terminators, affecting the 5′ or 3′ end of isoforms (Ni et al. 2010; Kamieniarz-Gdula and Proudfoot 2019). ATL mechanisms occur during and after...
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Research: Birth of protein-coding exons by ancient domestication of LINE-1 retrotransposon
- Koichi Kitao,
- Kenji Ichiyanagi,
- and So Nakagawa
Genome Res. June 2025 35: 1287-1300; Published in Advance May 8, 2025, doi:10.1101/gr.280007.124
...gene was highly expressed in the green anole heart, whereas low expression was observed in other tissues (Fig. 4A). To examine the expression level of the Lyosin splicing variant, we counted the RNA-seq reads spanning the introns. Although canonical splicing between exon 2 and exon 3 was detected...
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Research: Transposable elements contribute to the evolution of host shift–related genes in cactophilic Drosophila species
- Daniel Siqueira de Oliveira,
- Anaïs Larue,
- William Vilas Boas Nunes,
- Francois Sabot,
- Alejandra Bodelón,
- María Pilar García Guerreiro,
- Cristina Vieira,
- and Claudia Marcia Aparecida Carareto
Genome Res. March 2026 36: 487-505; Published in Advance February 10, 2026, doi:10.1101/gr.280463.125
...transcript with a LINE/R1 element located in its seventh intron. The depth in exons, including the seventh intron, was assessed with RNA-seq from head tissue.In heads and larvae, ∼49% of the detected chimeric transcript isoforms were not assembled or had a contribution to gene expression <25% (Fig. 4B...
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Research: Alternative splicing generates HER2 isoform diversity underlying antibody–drug conjugate resistance in breast cancer
- Gabriela D.A. Guardia,
- Carlos H. dos Anjos,
- Aline Rangel-Pozzo,
- Filipe F. dos Santos,
- Alexander Birbrair,
- Paula F. Asprino,
- Anamaria A. Camargo,
- and Pedro A.F. Galante
Genome Res. September 2025 35: 1942-1958; Published in Advance July 15, 2025, doi:10.1101/gr.280304.124
...; Supplemental Table S5).To confirm the splicing changes observed in HER2 full-length isoforms (Fig. 2), we examined exon–exon junction read counts from TCGA breast cancer samples. This analysis reproduced the key splicing patterns initially identified, including ES, alternative splice site usage, intron...
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Method: Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences
- Chencheng Xu,
- Suying Bao,
- Ye Wang,
- Wenxing Li,
- Hao Chen,
- Yufeng Shen,
- Tao Jiang,
- and Chaolin Zhang
Genome Res. July 2024 34: 1052-1065; Published in Advance July 26, 2024, doi:10.1101/gr.279044.124
....Most human genes consist of multiple exons and introns that are transcribed into precursor mRNAs (pre-mRNAs). The process of pre-mRNA splicing that removes introns and joins exons is required to produce mature mRNAs ready for protein translation (Black 2003; Chen and Manley 2009). In addition, alternative...
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Research: Acute depletion of METTL3 implicates N⁶-methyladenosine in alternative intron/exon inclusion in the nascent transcriptome
- Guifeng Wei,
- Mafalda Almeida,
- Greta Pintacuda,
- Heather Coker,
- Joseph S. Bowness,
- Jernej Ule,
- and Neil Brockdorff
Genome Res. August 2021 31: 1395-1408; Published in Advance June 15, 2021, doi:10.1101/gr.271635.120
...as “exon” in the nascent transcriptome. Our observations support that high-confidence m6A methylation in constitutive introns is rare, as reported previously (Ke et al. 2017). Based on the assumption that m6A affects splice site usage in cis, we further found that the location of m6A peaks relative...
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Research: GC content, but not nucleosome positioning, directly contributes to intron splicing efficiency in Paramecium
- Stefano Gnan,
- Mélody Matelot,
- Marion Weiman,
- Olivier Arnaiz,
- Frédéric Guérin,
- Linda Sperling,
- Mireille Bétermier,
- Claude Thermes,
- Chun-Long Chen,
- and Sandra Duharcourt
Genome Res. April 2022 32: 699-709; Published in Advance March 9, 2022, doi:10.1101/gr.276125.121
...with high splicing efficiency. Our data reveal a complex link between GC content, nucleosome positioning, and intron evolution in Paramecium.In eukaryotes, genomic DNA is compacted by histones into chromatin. The basic unit of chromatin is the nucleosome, which comprises a histone octamer made of the four...
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Research: Hierarchical architecture of neo-sex chromosomes and accelerated adaptive evolution in tortricid moths
- Fangyuan Yang,
- Li-Jun Cao,
- Petr Nguyen,
- Zhong-Zheng Ma,
- Jin-Cui Chen,
- Wei Song,
- and Shu-Jun Wei
Genome Res. January 2025 35: 66-77; Published in Advance January 6, 2025, doi:10.1101/gr.279569.124
...), these sex chromosome–autosome (SA) fusions occur relatively frequently, suggesting possible evolutionary advantages. Here, we investigated how SA fusion affects chromosome features and molecular evolution in leafroller moths (Lepidoptera: Tortricidae). Phylogenomic analysis showed that Tortricidae diverged...
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Research: Physiological intron retaining transcripts in the cytoplasm abound during human motor neurogenesis
- Marija Petrić Howe,
- Hamish Crerar,
- Jacob Neeves,
- Jasmine Harley,
- Giulia E. Tyzack,
- Pierre Klein,
- Andres Ramos,
- Rickie Patani,
- and Raphaëlle Luisier
Genome Res. October 2022 32: 1808-1825; Published in Advance September 30, 2022, doi:10.1101/gr.276898.122
...for which an intron is considered nonretained. (B, top) Schematic depicting the selected splicing regulatory regions juxtaposing the splice sites, namely, the last 30 nucleotides (nt) of the upstream exon (R1), the first 30 nt of 5′ intron region (R2), the 30 nt in the middle of the intron (R3), the last 30...
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Method: Assessing conservation of alternative splicing with evolutionary splicing graphs
- Diego Javier Zea,
- Sofya Laskina,
- Alexis Baudin,
- Hugues Richard,
- and Elodie Laine
Genome Res. August 2021 31: 1462-1473; Published in Advance June 15, 2021, doi:10.1101/gr.274696.120
...), and many organ-specific splicing patterns have diverged rapidly during vertebrate evolution (Barbosa-Morais et al. 2012; Merkin et al. 2012). This mechanism can affect transcript maturation and post-transcriptional regulation or result in protein isoforms (“proteoforms”) with different shapes (Birzele et...

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