論文 - 詳細
| RRC ID | 86218 |
|---|---|
| 著者 | Lemoine L, Hoelzl S, Hasenbein TP, Graf E, Andergassen D. |
| タイトル | Long-read sequencing disentangles isoform complexity at allele-specific loci. |
| ジャーナル | Sci Rep |
| Abstract |
In recent years, long-read sequencing technologies have detected transcript isoforms with unprecedented accuracy and resolution. However, it remains unclear whether long-read sequencing can effectively disentangle the isoform landscape of complex allele-specific loci that arise from genetic or epigenetic differences between alleles. Here, we combine the PacBio Iso-Seq workflow with the established phasing approach WhatsHap to assign long reads to the corresponding allele in polymorphic F1 mouse hybrids. Upon comparing the long-read sequencing results with matched short reads, we observed general consistency in the allele-specific information and were able to confirm the imprinting status of known imprinted genes. We then explored the complex imprinted Gnas locus known for allele-specific non-coding and coding isoforms and were able to benchmark historical observations. This approach also allowed us to detect isoforms from both the active and inactive X chromosomes of genes that escape X chromosome inactivation. The described workflow offers a promising framework and demonstrates the power of long-read transcriptomic data to provide mechanistic insight into complex allele-specific loci. |
| 巻・号 | 15(1) |
| ページ | 39389 |
| 公開日 | 2025-11-11 |
| DOI | 10.1038/s41598-025-97362-z |
| PII | 10.1038/s41598-025-97362-z |
| PMID | 41219345 |
| PMC | PMC12606347 |
| MeSH | Alleles* Animals Genetic Loci* Genomic Imprinting High-Throughput Nucleotide Sequencing / methods Mice Protein Isoforms / genetics X Chromosome Inactivation |
| IF | 3.998 |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 最多言及媒体 | Bluesky |
| 各媒体での言及数の合計 | 3 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| 実験動物マウス | RBRC02655 |