Related Experiment Video
Updated: Mar 27, 2026
09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
12.3K
Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive
Sweta Mishra1, Johnathan R Whetstine2
1Massachusetts General Hospital Cancer Center and Department of Medicine, Harvard Medical School, Charlestown, Massachusetts, USA.
Molecular and Cellular Biology
|January 13, 2016
Summary
Chromosomal copy number changes can cause disease but also occur in normal biology. This review explores these changes, including transient site-specific copy gains (TSSGs), and their role in cancer and drug resistance.
Area of Science:
- Genetics and Genomics
- Cancer Biology
- Developmental Biology
Background:
- Chromosomal copy number changes are linked to disease development.
- However, these changes also occur during normal physiological and developmental processes.
Purpose of the Study:
- To review the causes and consequences of copy number changes in normal physiology.
- To examine the association of copy number changes with cancer and acquired drug resistance.
- To introduce and discuss transient site-specific copy gains (TSSGs) and their implications.
Main Methods:
- Literature review of existing research on chromosomal copy number variations.
- Analysis of permanent and transient copy number gains.
- Discussion of mechanisms driving transient site-specific copy gains (TSSGs).
Main Results:
- Copy number changes have diverse roles, from normal biological processes to disease.
- Transient site-specific copy gains (TSSGs) represent a newly discussed mechanism.
- TSSGs contribute to intratumoral heterogeneity and tumor evolution.
Conclusions:
- Understanding copy number changes, particularly TSSGs, is crucial for cancer research.
- TSSGs can significantly influence therapeutic responses in cancer patients.
- Further research into TSSGs may reveal new therapeutic strategies.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
19.2K
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%...
19.2K
01:05Single Nucleotide Polymorphisms-SNPs
19.8K
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,...
19.8K
02:46Genome Copying Errors
5.4K
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.
5.4K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
89
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
89
02:08Gene Conversion
3.3K
3.3K
02:08Gene Conversion
10.9K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
10.9K