Related Experiment Video
Updated: Feb 13, 2026
14:26
Genome-wide Purification of Extrachromosomal Circular DNA from Eukaryotic Cells
Published on: April 4, 2016
26.0K
Unravelling genome-wide mosaic microsatellite mutations at single-cell resolution.
Chunyi Wang1,2,3, Wenxuan Fan1,2,3, Weixiang Wang1,2,4,3
1School of Life Sciences, Westlake University, Hangzhou, Zhejiang, 310024, China.
Biorxiv : the Preprint Server for Biology
|February 12, 2026
Summary
We developed BayesMonSTR to detect mosaic short tandem repeat (STR) mutations in single cells. This reveals longer STR insertions and deletions accumulate with age, particularly in brain neurons, impacting gene regulation.
Area of Science:
- Genomics
- Molecular Biology
- Aging Research
Background:
- Short tandem repeats (STRs) are mutable genomic regions involved in gene regulation and disease.
- Detecting mosaic STR mutations at single-cell resolution is technically challenging.
Purpose of the Study:
- To develop a robust algorithm for accurate detection of mosaic STR mutations at single-cell resolution.
- To investigate the landscape of mosaic STR variation in human aging and different cell types.
Main Methods:
- Development of the BayesMonSTR algorithm for mosaic STR mutation detection.
- Single-cell analysis of human tissues to identify and quantify STR mutations.
- Comparative analysis of mutation burden across different cell types (neurons, B cells, lung epithelium) and ages.
Main Results:
- BayesMonSTR enables accurate detection of mosaic STR mutations.
- Mosaic STR insertions and deletions (indels) accumulate in aging cells.
- Prefrontal cortex neurons show a higher burden of STR mutations than B cells or lung cells, with increased deletions in aged neurons.
- Mutations are enriched at transcription start sites and active enhancers of highly expressed genes.
Conclusions:
- BayesMonSTR provides a foundation for discovering disease-associated mosaic STR mutations.
- Aging is associated with an accumulation of mosaic STR indels, especially in neurons.
- Mosaic STR variation represents a previously unexplored aspect of human development and aging.
Related Concept Videos
02:21Cancers Originate from Somatic Mutations in a Single Cell
15.0K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
15.0K
01:11Genome-wide Association Studies-GWAS
15.8K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.8K
01:39Mutations
94.6K
Overview
94.6K
01:34The Fluid Mosaic Model
179.8K
The fluid mosaic model was first proposed as a visual representation of research observations. The model comprises the composition and dynamics of membranes and serves as a foundation for future membrane-related studies. The model depicts the structure of the plasma membrane with a variety of components, which include phospholipids, proteins, and carbohydrates. These integral molecules are loosely bound, defining the cell’s border and providing fluidity for optimal function.
179.8K
02:30Genomic Imprinting and Inheritance
37.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.3K
00:36Viral Mutations
40.0K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
40.0K