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Related Concept Videos

Nucleotide Excision Repair01:38

Nucleotide Excision Repair

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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...
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Overview of DNA Repair02:25

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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.
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Base Excision Repair01:54

Base Excision Repair

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One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
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DNA Damage can Stall the Cell Cycle02:37

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In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
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Fixing Double-strand Breaks02:04

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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...
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Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

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Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
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Visualizing and Quantifying Endonuclease-Based Site-Specific DNA Damage
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Infections in DNA Repair Defects.

Yesim Yilmaz Demirdag1, Sudhir Gupta1

  • 1Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, CA 92617, USA.

Pathogens (Basel, Switzerland)
|March 29, 2023
PubMed
Summary

DNA repair defects can lead to immune deficiencies, increasing susceptibility to diverse infections. This review details infectious complications in 15 rare DNA repair disorders linked to immunodeficiency.

Keywords:
Bloom syndromeDNA repair disordersNijmegen breakage syndromeataxia telangiectasiaimmunodeficiencyinborn errors of immunityinfections

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Area of Science:

  • Genetics
  • Immunology
  • Infectious Diseases

Background:

  • DNA repair defects present heterogeneously with varied clinical phenotypes.
  • Common manifestations include cancer risk, accelerated aging, and developmental defects.
  • Immune system involvement in DNA repair defects can cause susceptibility to infections and autoimmunity.

Purpose of the Study:

  • To discuss infections in 15 rare and sporadic DNA repair defects associated with immunodeficiencies.
  • To highlight the spectrum of infectious complications in these disorders.
  • To address the limited information available on infectious complications due to the rarity of these conditions.

Main Methods:

  • Review of literature on DNA repair defects and associated immunodeficiencies.
  • Compilation of information on infectious complications in 15 specific rare disorders.
  • Analysis of infection characteristics, including causative agents and severity.

Main Results:

  • DNA repair defects can lead to primary immune cell deficiencies (T, B, NK cells).
  • Infections range from mild respiratory to severe opportunistic and fatal types.
  • Causative agents include bacteria, viruses, and fungi.

Conclusions:

  • Infections are a significant concern in DNA repair defects associated with immunodeficiency.
  • Understanding these infectious complications is crucial for patient management.
  • Further research is needed to better characterize and manage infections in these rare disorders.