アワビは重複遺伝子であふれている~メガイアワビの二倍体ゲノムアセンブリを構築!~

2025-11-07 東京大学

東京大学大学院農学生命科学研究科の平瀬祥太朗准教授らの研究チームは、日本産大型アワビ「メガイアワビ」の高精度な二倍体ゲノムアセンブリを世界で初めて構築し、アワビ類の染色体に多数の重複遺伝子が存在することを発見した。父母由来の相同染色体を別々に解読して比較した結果、シンテニー(遺伝子の並び順)が保存されていない“非シンテニック染色体”が3組見つかり、これらに免疫関連などの機能ドメインをもつ遺伝子が集中的に重複していることを確認。さらに、アワビ類を含む無脊椎動物46種との比較で、アワビ類は特に重複遺伝子の割合が高いことが明らかになった。これらの重複は新機能創出や発現量の増加をもたらし、アワビ類の長期的な繁栄や環境適応に寄与した可能性が示唆される。今後、保全・育種・進化研究の基盤として活用が期待される。研究成果はMolecular Ecology Resources誌に掲載。

アワビは重複遺伝子であふれている~メガイアワビの二倍体ゲノムアセンブリを構築!~
図1:メガイアワビの二倍体ゲノムアセンブリのPrimaryアセンブリとAlternativeアセンブリを相同染色体ごとに並べて比較した図(2n=36なので18ペアある)。

<関連情報>

アワビ( Haliotis)における非シンテニー相同染色体の祖先起源と構造特性 Ancestral Origin and Structural Characteristics of Non-Syntenic Homologous Chromosomes in Abalones (Haliotis)

Shotaro Hirase, Takashi Makino, Takeshi Takeuchi, Mitsutaka Kadota, Shigehiro Kuraku, Kiyoshi Kikuchi
Molecular Ecology Resources  Published: 07 November 2025
DOI:https://doi.org/10.1111/1755-0998.70057

ABSTRACT

Structural variation is increasingly recognised as a pivotal contributor to genomic diversity in marine invertebrates, yet its extent and evolutionary significance remain poorly characterised in many species. Haplotype-phased genome assembly is an excellent resource for studying such variations by comparing homologous chromosomes. Here, we focus on abalones (genus Haliotis) that are iconic marine invertebrates originated in the Cretaceous period. They have long drawn attention for their ecological roles, distinctive morphology and cultural and economic value. In this study, we constructed a haplotype-phased genome assembly for the western Pacific abalone, Haliotis gigantea, using high-fidelity (HiFi) long-read sequencing and high-resolution chromosome conformation capture (Hi-C) data. The primary and alternative assemblies each comprised 18 long scaffolds (> 50 Mb), consistent with the species’ diploid chromosome number (2n = 36), and contained 96.5% and 96.2% complete single-copy Metazoa Benchmarking Universal Single-Copy Orthologs genes, respectively, indicating high assembly quality. Comparative analysis of the two haplotypes revealed three homologous chromosomes with large-scale non-syntenic regions caused by extensive segmental duplications, with each enriched in distinct gene domains that may be related to adaptive evolution. These non-syntenic chromosomes likely originated in abalone evolution, as they were conserved across both closely and distantly related species, and led to the accumulation of duplicated genes in abalones. Our genome assembly highlights the evolutionary importance of non-syntenic structural variation in shaping genome architecture and suggests that such variation may play a broader role in functional diversification, adaptation and consequent prosperity across abalones.

1401漁業及び増養殖
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