Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden.
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Genome Biol. 2024 Aug 9;25(1):214. doi: 10.1186/s13059-024-03360-1.
Analysis of clonal dynamics in human tissues is enabled by somatic genetic variation. Here, we show that analysis of mitochondrial mutations in single cells is dramatically improved in females when using X chromosome inactivation to select informative clonal mutations. Applying this strategy to human peripheral mononuclear blood cells reveals clonal structures within T cells that otherwise are blurred by non-informative mutations, including the separation of gamma-delta T cells, suggesting this approach can be used to decipher clonal dynamics of cells in human tissues.
体细胞遗传变异使人类组织中的克隆动力学分析成为可能。在这里，我们表明，当使用 X 染色体失活来选择有信息的克隆突变时，女性中单细胞中线粒体突变的分析得到了显著改善。将这一策略应用于人类外周血单核细胞，揭示了 T 细胞中的克隆结构，否则这些结构会被无信息的突变所掩盖，包括γ-δ T 细胞的分离，这表明该方法可用于破译人类组织中细胞的克隆动力学。
