Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Comparing Copy Number Variations and SNPs

Comparing 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%...

Genome Copying Errors

Genome 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.

Single Nucleotide Polymorphisms-SNPs

Single 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,...

Cell Lines

Cell Lines

A cell line is a population of cells grown in vitro that can be subcultured over several generations. Normal cells cease to divide after a certain number of cell divisions, a process known as replicative senescence. This number, called the Hayflick limit, was conceptualized by Leonard Hayflick in 1961 when he observed that fetal cells grown in culture could only divide 40-60 times. This limit is due to the shortening of the telomeres during each round of cell division, preventing cell division...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

New Cytotoxic Anthraquinone Derivatives from a Deep-Sea-Derived <i>Aspergillus</i> sp. SCSIO 41331.

Marine drugs·2026

Same author

Ferroptosis vulnerability of enzalutamide resistant prostate cancer conferred by ACSL4 overexpression and GPX4 antagonism.

Cell death & disease·2026

Same author

Peptide-Lipid Nanoparticles Enhance Cell Transfection Efficiency.

Langmuir : the ACS journal of surfaces and colloids·2026

Same author

Covalent Organic Framework with Acid Precipitation Enhances Microprotein Enrichment and Discovery of Ferroptosis-Associated Microproteins.

Analytical chemistry·2026

Same author

UHRF1 regulates AR ubiquitination to promote the loss of AR signaling and enzalutamide resistance in progression of prostate cancer.

Cell death & disease·2026

Same author

Cortactin Suppresses mTOR-Dependent Senescence in Circulating Tumor Cells.

Cancer research·2025

Search research articles

Related Experiment Video

Updated: May 26, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Common copy number variations in fifty radiosensitive cell lines.

Xinmin Li¹, Jian Zhou, Shareef A Nahas

¹Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA 90095, USA. Xinminli@mednet.ucla.edu

|December 28, 2011

Summary

This study identified novel copy number variations (CNVs) linked to radiation sensitivity in cancer patients. Most identified CNVs were chromosomal gains, challenging traditional views on radiosensitivity.

More Related Videos

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Related Experiment Videos

Last Updated: May 26, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Area of Science:

Genomics
Cancer Biology
Radiation Oncology

Background:

Hypersensitivity to radiation exposure poses a significant challenge in cancer radiotherapy.
Copy number variations (CNVs) are potential indicators of genomic regions affecting radiosensitivity (RS).
Systematic investigation of CNVs in relation to radiosensitivity is lacking.

Purpose of the Study:

To systematically investigate common CNVs in radiosensitive lymphoblastoid cell lines (RS-LCLs).
To identify CNVs associated with functional significance for radiosensitivity.
To explore novel genetic mechanisms underlying radiosensitivity.

Main Methods:

Utilized Affymetrix 6.0 SNP arrays to survey common CNVs.
Analyzed a cohort of 50 radiosensitive lymphoblastoid cell lines (RS-LCLs).
Identified CNVs present in at least 10% of the cell lines and compared them to a reference population.

Main Results:

Identified 317 common CNVs in the RS-LCL cohort.
Found 13 CNVs significantly enriched in RS-LCLs compared to the reference.
Discovered 9 novel CNVs, predominantly chromosomal gains, associated with radiosensitivity.
Observed that the majority of enriched and novel CNVs were chromosomal gains.

Conclusions:

The enrichment of chromosomal gains challenges traditional concepts of the molecular basis of radiosensitivity.
These findings suggest complex genetic mechanisms underlying radiation sensitivity.
The identified CNVs may serve as biomarkers or targets for improving radiotherapy.