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Extensive phylogenies of human development inferred from somatic mutations
Tim H H Coorens1, Luiza Moore1,2, Philip S Robinson1,3
1Wellcome Sanger Institute, Hinxton, UK.
Nature
|August 26, 2021
Summary
Human body cells accumulate mutations, acting as lineage tracing markers. Early embryonic cell division shows significant asymmetry, varying between individuals and tissues, impacting adult development and germline origins.
Area of Science:
- Developmental Biology
- Genomics
- Human Physiology
Background:
- Somatic mutations accumulate throughout life, originating from the zygote.
- Shared mutations serve as natural markers for tracing cell lineages.
- Understanding early human development and tissue patterning is crucial.
Purpose of the Study:
- To reconstruct human phylogenies using somatic mutations.
- To investigate the extent of developmental asymmetry in early human embryogenesis.
- To explore the origins of primordial germ cells and the soma-germline developmental split.
Main Methods:
- Whole-genome sequencing of 511 laser capture microdissections from normal tissues of three adult individuals.
- Phylogenetic reconstruction to infer lineage relationships and developmental history.
- Analysis of mutation patterns to determine cell contributions and tissue spatial organization.
Main Results:
- Extensive phylogenies revealed significant asymmetry in embryonic cell contributions to adult tissues, with zygote daughter cell ratios ranging from 60:40 to 93:7.
- Developmental asymmetries were observed to pervade subsequent cell generations and vary between different tissues within the same individual.
- Phylogenetic analysis resolved spatial embryonic patterning, identifying contiguous tissue patches derived from single embryonic progenitors and suggesting an extraembryonic contribution to primordial germ cells.
Conclusions:
- Early embryonic cell division exhibits substantial and variable asymmetry, influencing adult tissue composition and patterning.
- Lineage commitment and developmental bottlenecks during embryogenesis lead to significant variations in developmental patterns within and between individuals.
- Somatic mutation-based phylogenies provide a powerful tool for reconstructing developmental history and understanding human tissue development.
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