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

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Published on: May 8, 2020

Detectable clonal mosaicism in the human genome.

Mitchell J Machiela¹, Stephen J Chanock

¹Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.

Seminars in Hematology

|November 20, 2013

Summary

Detectable genetic mosaicism, the presence of distinct cell genotypes, is found in healthy individuals and increases with age. This phenomenon may impact genomic stability and disease risk, including cancer.

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Detection of Copy Number Alterations Using Single Cell Sequencing

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Published on: February 17, 2017

Area of Science:

Genetics
Genomics
Human Biology

Background:

Human genetic mosaicism involves multiple distinct cell genotypes within an individual from a single zygote.
Initially linked to rare disorders, mosaicism with large structural alterations (>2 Mb) is now detected in healthy individuals.
Genome-wide association studies (GWAS) data reveal the prevalence of mosaic events.

Purpose of the Study:

To investigate the molecular basis of genomic regions affected by mosaicism.
To understand the developmental timing and clonal expansion of mosaic events.
To explore the association between genetic mosaicism and disease risk.

Main Methods:

Analysis of genome-wide association studies (GWAS) data.
Characterization of large structural alterations (>2 Mb).
Assessment of recurrent events in specific chromosomal regions.

Main Results:

Detectable clonal mosaicism is present in apparently healthy individuals.
Mosaicism frequency increases with age and may be more prevalent in males.
Specific chromosomal regions show increased susceptibility to mosaic events, suggesting varying genomic stability.

Conclusions:

Genetic mosaicism represents dynamic genomic changes associated with aging.
Large structural mosaic events may increase the risk for common disorders, including cancer, cardiovascular disease, diabetes, and neurological disorders.
Further research into mosaicism could provide insights into disease initiation and progression.