Related Experiment Video
Updated: Jun 28, 2026
09:03
Profiling Individual Human Embryonic Stem Cells by Quantitative RT-PCR
Published on: May 29, 2014
Extensive genomic copy number variation in embryonic stem cells.
Qi Liang1, Nathalie Conte, William C Skarnes
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
Summary
Copy number variations (CNVs) are extensive in mouse embryonic stem cells, arising during mitosis. This suggests somatic tissues are mosaics, challenging the idea of a stable genome in both mice and humans.
Area of Science:
- Genomics
- Developmental Biology
- Genetics
Background:
- Highly identical duplicated elements constitute over 5% of human and mouse genomes.
- Copy number variations (CNVs) are a significant source of genetic diversity and implicated in various diseases.
- CNVs are fixed in inbred mouse strains but vary greatly among different strains.
Purpose of the Study:
- To investigate the occurrence and extent of de novo copy number variations (CNVs) in mouse embryonic stem (ES) cells.
- To understand the implications of CNVs in ES cells for genetic variability within individuals and across generations.
Main Methods:
- Analysis of the genomes of clonal isolates of mouse ES cells derived from common parental lines.
- Characterization of recurrent and extensive CNVs within these ES cell populations.
Main Results:
- Extensive and recurrent CNVs were identified in mouse ES cells, arising during mitotic cell division.
- These CNVs can be transmitted to the germ line, contributing to genetic variability.
- The findings suggest that somatic tissues are mosaics of genomic variants.
Conclusions:
- The high frequency of CNVs in ES cells indicates that somatic genomes are not stable.
- This genomic instability in ES cells has implications for human ES cells and derived somatic lineages.
- The concept of a stable somatic genome may need re-evaluation in light of these findings.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
00:57Embryonic Stem Cells
Embryonic stem (ES) cells were first discovered in mice in 1981 by Martin Evans. In 1998, James Thomson identified a method to isolate embryonic stem cells from humans. Human embryonic stem cells (hESCs) are obtained from 3-5 day old embryos that remain unused after an in vitro fertilization procedure.
ES cells are grown in a culture medium where they can divide indefinitely, creating ES cell lines. Under certain conditions, ES cells can differentiate, either spontaneously into a variety of...
ES cells are grown in a culture medium where they can divide indefinitely, creating ES cell lines. Under certain conditions, ES cells can differentiate, either spontaneously into a variety of...
00:58Embryonic Stem Cells
Embryonic stem (ES) cells are undifferentiated pluripotent cells, meaning they can produce any cell type in the body. This gives them tremendous potential in science and medicine since they can generate specific cell types for use in research or to replace body cells lost due to damage or disease.
01:14Maintenance of the ES Cell State
The cells of the blastocyst inner cell mass only remain pluripotent for a short time. This state of pluripotency and self-renewal can be maintained in embryonic stem (ES) cell culture by adding specific chemicals or growth factors to ensure the cells can continue dividing and later differentiate into different cell types. In some cases, the cells are grown on a feeder layer of differentiated cells, which provides the growth factors and extracellular matrix components necessary for stem cell...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
02:46Genome Copying Errors
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.