关键词: Clonality Hematopoiesis Mutations X chromosome inactivation

Mesh : Humans X Chromosome Inactivation Female Mutation Single-Cell Analysis Leukocytes, Mononuclear / metabolism Chromosomes, Human, X / genetics Clone Cells T-Lymphocytes / metabolism Male DNA, Mitochondrial / genetics

来  源:   DOI:10.1186/s13059-024-03360-1   PDF(Pubmed)

Abstract:
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.
摘要:
通过体细胞遗传变异可以分析人体组织中的克隆动力学。这里,我们表明,当使用X染色体失活来选择信息性克隆突变时,对女性单细胞线粒体突变的分析得到了显著改善。将这种策略应用于人类外周单核细胞可以揭示T细胞内的克隆结构,否则这些结构会因非信息性突变而模糊。包括γ-δT细胞的分离,表明这种方法可用于破译人体组织中细胞的克隆动力学。
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