完全な線虫ゲノム配列を決定

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2025-07-16 東京大学

東京大学などの研究グループは、線虫(Caenorhabditis elegans)の完全なゲノム配列を初めて解読しました。これまで未解析だった繰り返し配列やrRNA領域を含め、21,238個の遺伝子を特定。特に難解だった45S rRNA領域(77.2万塩基)を詳細に解明しました。この成果は、長リードシーケンス技術を駆使して得られたもので、線虫を動物合成生物学のモデルとして活用する新たな道を拓きます。

完全な線虫ゲノム配列を決定
線虫(学名Caenorhabditis elegans)の3つの成長過程
画像提供 Marie-Anne Félix 博士, Ecole Normale Supérieure, Paris, France

<関連情報>

線虫の新しい参照ゲノムCGC1 CGC1, a new reference genome for Caenorhabditis elegans

Kazuki Ichikawa,Massa J. Shoura,Karen L. Artiles,Dae-Eun Jeong,Chie Owa,Haruka Kobayashi,Yoshihiko Suzuki,Manami Kanamori,Yu Toyoshima,Yuichi Iino,Ann E. Rougvie,Lamia Wahba,Andrew Z. Fire,Erich M. Schwarz and Shinichi Morishita
Genome Research  Published:July 15, 2025
DOI:10.1101/gr.280274.124

Abstract

The original 100.3 Mb reference genome for Caenorhabditis elegans, generated from the wild-type laboratory strain N2, has been crucial for analysis of C. elegans since 1998 and has been considered complete since 2005. Unexpectedly, this long-standing reference was shown to be incomplete in 2019 by a genome assembly from the N2-derived strain VC2010. Moreover, genetically divergent versions of N2 have arisen over decades of research and hindered reproducibility of C. elegans genetics and genomics. Here we provide a 106.4 Mb gap-free, telomere-to-telomere genome assembly of C. elegans, generated from CGC1, an isogenic derivative of the N2 strain. We use improved long-read sequencing and manual assembly of 43 recalcitrant genomic regions to overcome deficiencies of prior N2 and VC2010 assemblies and to assemble tandem repeat loci, including a 772 kb sequence for the 45S rRNA genes. Although many differences from earlier assemblies come from repeat regions, unique additions to the genome are also found. Of 19,972 protein-coding genes in the N2 assembly, 19,790 (99.1%) encode products that are unchanged in the CGC1 assembly. The CGC1 assembly also may encode 183 new protein-coding and 163 new ncRNA genes. CGC1 thus provides both a completely defined reference genome and corresponding isogenic wild-type strain for C. elegans, allowing unique opportunities for model and systems biology.

細胞遺伝子工学
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