単一細胞のDNAメチル化を解析する新手法を開発(Researchers Develop a Method for Single-Cell DNA Methylation Analysis)

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2026-10-29 合肥物質科学研究院(HFIPS)

中国科学院合肥物質科学研究院の研究チームは、単一細胞ごとのDNAメチル化状態を高精度に解析する標準化手法を開発した。本手法は、多重単一細胞簡略化代表性バイサルファイトシーケンシング(Msc-RRBS)を基盤とし、細胞の前処理、DNA消化などの反応を同一のマイクロウェル内で実施することで、精製工程を減らし、DNAの損失を抑制する。また、分子バーコードを利用して24個の単一細胞試料をまとめて処理でき、試薬使用量と作業負担を削減する。さらに、シーケンスデータからメチル化パターンを抽出し、品質を自動評価する解析ツール「SingleCellMethPipe」を開発した。健康な人と骨髄異形成症候群患者の造血幹・前駆細胞96個を解析した結果、86個が品質基準を満たし、成功率89.6%を達成した。細胞間および健康状態によるDNAメチル化の違いを検出でき、細胞分化や血液疾患、がんの発症機構の解明に貢献する成果である。

単一細胞のDNAメチル化を解析する新手法を開発(Researchers Develop a Method for Single-Cell DNA Methylation Analysis)
Workflow of Msc-RRBS library preparation and methylation analysis. (Image by GU Hongcang)

<関連情報>

ゲノムワイドDNAメチル化プロファイリングのための多重化単一細胞還元表現型ビスルフィットシーケンス Multiplexed single-cell reduced representation bisulfite sequencing for genome-wide DNA methylation profiling

Fang Liu, Jian Huang, Yanhua Zheng, Lina Fu, Xuanlu Wu, Ningning Zhao, Yunfei Wang, Andreas Gnirke, Alexander Meissner, Xiaoxue Wang, Fan Zhang & Hongcang Gu
Nature Protocols  Published:15 October 2026
DOI:https://doi.org/10.1038/s41596-026-01452-9

Abstract

DNA methylation is a fundamental epigenetic modification that regulates gene expression, maintains genomic integrity and defines cellular identity. Conventional bulk sequencing methods, such as reduced-representation bisulfite sequencing (RRBS), have elucidated genome-wide methylation landscapes but do not reveal cell-to-cell variation, limiting insights into methylation heterogeneity during development, differentiation and disease. Here, we present multiplexed single-cell RRBS (Msc-RRBS), a streamlined and scalable protocol for parallel DNA methylation profiling of hundreds of individual cells. All enzymatic reactions, including cell lysis, restriction digestion, end repair and adapter ligation, are carried out in a single microwell, which eliminates the need for buffer exchange and minimizes DNA loss. Short, indexed adapters are used to efficiently remove adapter dimers and enable effective purification of library DNA by magnetic bead clean-up. The workflow supports the generation of sequencing libraries from single cells, pooled cells or sub-nanogram amounts of purified genomic DNA. The full workflow, from cell sorting to sequencing-ready libraries and data analysis, requires ~6 d for one or more 96-well plates. Msc-RRBS thus provides an efficient, reproducible and high-throughput approach for dissecting cell-to-cell DNA methylation heterogeneity across diverse biological and disease contexts. The experiments require basic molecular biology skills, and primary data processing can be performed by someone with limited bioinformatics training. More advanced analyses need additional computational expertise.

Key points

  • Multiplexed single-cell reduced-representation bisulfite sequencing (Msc-RRBS) enables high-throughput methylation profiling of hundreds of single cells. The procedure involves cell lysis, restriction digestion, end repair and adapter ligation followed by bisulfite conversion, sequencing and optional downstream analysis.
  • Msc-RRBS provides a practical balance of throughput, cost and data quality for profiling cell-to-cell methylation heterogeneity in development and disease.
細胞遺伝子工学
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