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Resolving rates of mutation in the brain using single-neuron genomics
Gilad D Evrony1,2,3,4,5, Eunjung Lee6,7, Peter J Park6,7
1Division of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, United States.
Elife
|February 23, 2016
Summary
Somatic mutations, specifically LINE-1 element retrotransposition, are not as widespread in human brain cells as previously thought. This study corrects previous findings, showing lower mutation rates and providing a framework for future single-cell genomics research.
Area of Science:
- Neuroscience
- Genetics
- Genomics
Background:
- Single-neuron genomics investigates somatic mutation rates in the human brain.
- Previous research suggested high rates of LINE-1 element (L1) retrotransposition in neurons.
Purpose of the Study:
- To re-evaluate somatic mutation rates in human brain cells.
- To identify artifacts in single-cell sequencing and bioinformatic analysis.
- To establish a framework for future single-cell genomics studies.
Main Methods:
- Reanalysis of single-cell sequencing data.
- Critique of bioinformatic and validation methods used in prior studies.
- Quantitative assessment of somatic mutation frequency.
Main Results:
- Identified thousands of artifacts misidentified as somatic mutations.
- Determined a somatic mutation frequency of ~0.2 events per cell, fifty-fold lower than previously reported.
- Confirmed L1 element mobilization in some human neurons, but not ubiquitously.
Conclusions:
- High somatic mutation rates previously reported in human neurons are largely due to artifacts.
- L1 retrotransposition occurs in human neurons but is not a ubiquitous phenomenon.
- Revised understanding and methodological considerations are crucial for accurate single-cell genomics research.
