Related Experiment Video
Updated: Jan 20, 2026
09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
12.1K
A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing.
Allegra A Petti1,2, Stephen R Williams3, Christopher A Miller1,2
1Division of Oncology, Washington University School of Medicine, St. Louis, MO, USA.
Nature Communications
|August 16, 2019
Summary
This study links genetic mutations to gene expression in Acute Myeloid Leukemia (AML) cells. Researchers identified distinct expression patterns for different AML cell groups, aiding in subclone identification.
Area of Science:
- Genomics
- Molecular Biology
- Cancer Research
Background:
- Tumors exhibit genetic heterogeneity with distinct subclonal populations and phenotypes.
- Single-cell RNA sequencing reveals transcriptional heterogeneity in tumors, but its link to subclonal architecture is unclear.
Purpose of the Study:
- To investigate the relationship between gene expression heterogeneity and subclonal architecture in Acute Myeloid Leukemia (AML).
- To integrate whole genome sequencing with single-cell RNA sequencing to connect genotype with phenotype in AML.
Main Methods:
- Applied whole genome sequencing and 10x Genomics Chromium Single Cell 5' Gene Expression workflow to five cryopreserved AML samples.
- Analyzed data to identify tumor-specific mutations within individual cells and distinguish AML cells from normal cells.
Main Results:
- Identified hundreds to thousands of cells with tumor-specific mutations per sample.
- Discovered expression signatures associated with subclonal mutations in AML.
- Found potential cell surface markers for purifying AML subclones.
Conclusions:
- The integrated approach successfully connects genotype to phenotype in heterogeneous AML samples.
- This method is broadly applicable for studying phenotypically and genetically heterogeneous samples.
Related Concept Videos
02:21Cancers Originate from Somatic Mutations in a Single Cell
14.6K
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...
14.6K
01:39Mutations
94.4K
Overview
94.4K
01:58Cell Specific Gene Expression
16.3K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
16.3K
01:58Cell Specific Gene Expression
5.4K
5.4K
00:36Viral Mutations
39.7K
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...
39.7K
01:42What is Gene Expression?
194.7K
Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
194.7K