推断单细胞中由 X 染色体失活状态引导的克隆性体细胞突变

IF 10.1 1区生物学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Genome Biology Pub Date : 2024-08-09 DOI:10.1186/s13059-024-03360-1

Ilke Demirci, Anton J. M. Larsson, Xinsong Chen, Johan Hartman, Rickard Sandberg, Jonas Frisén

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引用次数: 0

摘要

体细胞基因变异有助于分析人体组织中的克隆动态。在这里，我们展示了当使用 X 染色体失活来选择有信息的克隆突变时，雌性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单核血细胞，可以揭示 T 细胞内因非信息突变而模糊不清的克隆结构，包括γ-δ T 细胞的分离，这表明这种方法可用于解密人类组织中细胞的克隆动态。

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Inferring clonal somatic mutations directed by X chromosome inactivation status in single cells

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.

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来源期刊

Genome Biology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

21.00

自引率

3.30%

发文量

241

审稿时长

2 months

期刊介绍： Genome Biology stands as a premier platform for exceptional research across all domains of biology and biomedicine, explored through a genomic and post-genomic lens. With an impressive impact factor of 12.3 (2022),* the journal secures its position as the 3rd-ranked research journal in the Genetics and Heredity category and the 2nd-ranked research journal in the Biotechnology and Applied Microbiology category by Thomson Reuters. Notably, Genome Biology holds the distinction of being the highest-ranked open-access journal in this category. Our dedicated team of highly trained in-house Editors collaborates closely with our esteemed Editorial Board of international experts, ensuring the journal remains on the forefront of scientific advances and community standards. Regular engagement with researchers at conferences and institute visits underscores our commitment to staying abreast of the latest developments in the field.