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Related Experiment Video

Updated: Oct 22, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Clonal dynamics in early human embryogenesis inferred from somatic mutation.

Seongyeol Park^1,2, Nanda Maya Mali³, Ryul Kim¹

¹Graduate School of Medical Science and Engineering (GSMSE), Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea.

|August 26, 2021

Summary

This study reconstructs early human development using somatic mutations. It reveals insights into cellular lineage, mutation rates, and clonal imbalances in adult tissues.

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Characterizing Mutational Load and Clonal Composition of Human Blood

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Published on: July 11, 2019

Lineage Tracing and Clonal Analysis in Developing Cerebral Cortex Using Mosaic Analysis with Double Markers MADM

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Bone Marrow Transplantation Procedures in Mice to Study Clonal Hematopoiesis

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Area of Science:

Developmental Biology
Genetics
Human Embryogenesis

Background:

Understanding early human embryogenesis is crucial but limited by experimental challenges.
Somatic mutations serve as intrinsic markers for tracing cellular lineages.

Purpose of the Study:

To reconstruct early cellular phylogenies in human development.
To investigate endogenous mutation rates and clonal dynamics.
To explore cellular contributions to different tissues and organs.

Main Methods:

Whole-genome sequencing of single-cell colonies.
Deep sequencing of bulk tissues from human donors.
Utilizing somatic mutations as barcodes for phylogenetic reconstruction.

Main Results:

Identified a high initial mutation rate decreasing over time.
Demonstrated unequal contribution of early cells to the embryo proper.
Observed clonal imbalances across different body sides, germ layers, and organs.
Found evidence of few ancestral cells contributing significantly to adult blood and liver.
Detected mitochondrial DNA heteroplasmy in fertilized eggs.

Conclusions:

Established a foundation for completing cellular phylogenies in human embryogenesis.
Provided insights into age-related mutational processes and sex chromosome loss.
Highlighted the stochastic nature of early cell fate decisions and tissue contribution.