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.
Authors
- Johan Hartman (ORCID: https://orcid.org/0000-0002-6500-8527)
- Anton J. M. Larsson (ORCID: https://orcid.org/0000-0001-5876-7763)
- Jonas Frisén (ORCID: https://orcid.org/0000-0001-5819-458X)
- Ilke Demirci (ORCID: https://orcid.org/0000-0002-1098-5769)
- Rickard Sandberg (ORCID: https://orcid.org/0000-0001-6473-1740)
- Xinsong Chen (ORCID: https://orcid.org/0000-0002-3214-9075)
Institutions
- Karolinska University Hospital (SE)
- Karolinska Institutet (SE)
Publication Details
- Journal
- Genome biology
- Published
- 2024-08-09
- DOI
- https://doi.org/10.1186/s13059-024-03360-1
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Swedish Cancer Foundation
- Göran Gustafssons Stiftelser
- Stiftelsen för Strategisk Forskning
- Cancerfonden
- Göran Gustafssons Stiftelse för Naturvetenskaplig och Medicinsk Forskning
- Karolinska Institutet
- Knut och Alice Wallenbergs Stiftelse
- Vetenskapsrådet