2025-05-08 北里大学
北里大学の研究チームは、ヒトゲノム上で遺伝子変異の発生頻度に偏りが存在する理由を解明しました。研究によれば、変異の起きやすさはDNA配列の構造や機能的要因に依存しており、特定のゲノム領域では変異が蓄積しやすいことが明らかになりました。この発見は、疾患リスクの評価や進化医学の理解に貢献する可能性があります。研究成果は北里大学の公式ウェブサイトで発表されました。
<関連情報>
- https://www.kitasato-u.ac.jp/jp/news/20250508-03.html
- https://www.sciencedirect.com/science/article/pii/S0168952525000757
ゲノム内の突然変異の不均一性: 遺伝子の進化から構造的・機能的に考察する Intragenomic mutational heterogeneity: structural and functional insights from gene evolution
Yuichiro Hara, Shigehiro Kuraku
Trends in Genetics Available online 5 May 2025
DOI:https://doi.org/10.1016/j.tig.2025.03.007
Highlights
- High-quality sequence data have revealed significant intragenomic heterogeneity of various regional properties, including mutation rates.
- Mutation frequency is likely to be associated with regional sequence features such as GC-content, as well as epigenetic characteristics such as chromatin state and replication timing.
- Mutation rates in germline are locally reduced in actively transcribed genes due to an employment of DNA repair processes coinciding with transcription.
- Elusive genes, prone to loss in multiple lineages, highlight the impact of intragenomic heterogeneity on gene evolution.
- Comparative genomics illuminates chromosome-scale heterogeneity of genomic features possibly originated from ancestral allopolyploidization and conserved among vertebrates.
Abstract
Variation of mutation rates between species has been documented over decades, but the variation between different regions of a genome has been less often discussed. Recent studies using high-quality sequence data have revealed previously unknown levels of intragenomic heterogeneity of mutation rates and their association with other structural and functional features of DNA sequences. This article reviews accumulating evidence of this intragenomic heterogeneity and speculates its cause and influence on organismal phenotypes.
