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Related Concept Videos

Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview
Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
Overview of DNA Repair02:25

Overview of DNA Repair

In order to be passed through generations, genomic DNA must be undamaged and error-free. However, every day, DNA in a cell undergoes several thousand to a million damaging events by natural causes and external factors. Ionizing radiation such as UV rays, free radicals produced during cellular respiration, and hydrolytic damage from metabolic reactions can alter the structure of DNA. Damages caused include single-base alteration, base dimerization, chain breaks, and cross-linkage.
Chemically...

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Related Experiment Video

Updated: Jul 14, 2026

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter
06:59

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

Published on: March 31, 2022

Lessons learned from DNA repair defective syndromes.

Kai-Martin Thoms1, Christiane Kuschal, Steffen Emmert

  • 1Department of Dermatology and Venerology, Georg-August-University Goettingen, Germany.

Experimental Dermatology
|May 24, 2007
PubMed
Summary

Genomic instability drives cancer. Studying rare DNA repair deficiency syndromes reveals insights into aging, cancer, and personalized treatment strategies.

Area of Science:

  • Genetics and Molecular Biology
  • Cancer Research
  • Aging Research

Background:

  • Genomic instability is a key driver of cancer development.
  • Rare human syndromes with DNA repair deficiencies offer insights into genome maintenance.
  • These syndromes manifest as premature aging and early cancer onset.

Purpose of the Study:

  • To investigate the clinical consequences of faulty genome maintenance in DNA repair deficiency syndromes.
  • To understand the molecular mechanisms underlying these syndromes.
  • To explore the potential for developing novel cancer prevention and treatment strategies.

Main Methods:

  • Analysis of human syndromes with defects in DNA repair pathways (e.g., double-strand break repair, mismatch repair, nucleotide excision repair).

More Related Videos

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage
10:59

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Published on: August 21, 2021

Related Experiment Videos

Last Updated: Jul 14, 2026

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter
06:59

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

Published on: March 31, 2022

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage
10:59

Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage

Published on: August 21, 2021

  • Studying the genetic variations in DNA repair genes within the general population.
  • Investigating the link between DNA repair, aging, and cancer development.

    • Main Results:

    • Defects in DNA repair pathways lead to genomic instability, premature aging, and cancer.
    • Subtle genetic variations in DNA repair genes can contribute to cancer and accelerated aging later in life.
    • Understanding these mechanisms is crucial for personalized medicine.

    Conclusions:

    • Studying rare genetic diseases provides fundamental insights into cancerogenesis and aging.
    • Identifying genetic variations in DNA repair genes can inform individualized cancer prevention and therapy.
    • Establishing centers of excellence for rare genetic diseases can advance research and clinical applications.