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Related Concept Videos

The DNA Replication Fork01:02

The DNA Replication Fork

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An organism’s genome needs to be duplicated in an efficient and error-free manner for its growth and survival. The replication fork is a Y-shaped active region where two strands of DNA are separated and replicated continuously. The coupling of DNA unzipping and complementary strand synthesis is a characteristic feature of a replication fork.   Organisms with small circular DNA, such as E. coli, often have a single origin of replication; therefore, they have only two replication...
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Genome Copying Errors02:46

Genome Copying Errors

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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.
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DNA Damage can Stall the Cell Cycle02:37

DNA Damage can Stall the Cell Cycle

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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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Proofreading01:31

Proofreading

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Synthesis of new DNA molecules is carried out by the enzyme DNA polymerase, which adds nucleotides on the daughter strand complementary to the template DNA strand. DNA polymerase has a higher affinity to add the correct base and ensures fidelity during DNA replication. Furthermore,  it exhibits proofreading activity during replication, using an exonuclease domain that cuts off incorrect nucleotides from the nascent DNA strand.
Errors During Replication are Corrected by the DNA Polymerase...
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Restarting Stalled Replication Forks02:37

Restarting Stalled Replication Forks

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DNA replication is initiated at sites containing predefined DNA sequences known as origins of replication. DNA is unwound at these sites by the minichromosome maintenance (MCM) helicase and other factors such as Cdc45 and the associated GINS complex.The unwound single strands are protected by replication protein A (RPA) until DNA polymerase starts synthesizing DNA at the 5’ end of the strand in the same direction as the replication fork. To prevent the replication fork from falling apart,...
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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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Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence
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Quantifying Replication Stress in Ovarian Cancer Cells Using Single-Stranded DNA Immunofluorescence

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DNA replication-associated inborn errors of immunity.

Mathijs Willemsen1, Frederik Staels2, Margaux Gerbaux3

  • 1Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.

The Journal of Allergy and Clinical Immunology
|November 17, 2022
PubMed
Summary
This summary is machine-generated.

Inborn errors of immunity can arise from mutations in DNA replication factors, even when genes are widely expressed. These genetic defects disproportionately affect immune cells, causing diverse immunologic and clinical issues.

Keywords:
DNA replicationdevelopmental delayinborn errors of immunityleukocytesmutationperturbed growthprimary immunodeficiency

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Inborn errors of immunity (IEI) are monogenic disorders affecting immune system development and function.
  • While often caused by mutations in immune-specific genes, some IEIs stem from ubiquitously expressed genes.
  • Mutations in DNA replication, repair, or damage response factors can cause IEI.

Purpose of the Study:

  • To provide an overview of DNA replication-associated inborn errors of immunity.
  • To discuss emerging mechanistic insights into the heterogeneity of these disorders.
  • To explain the disproportionate impact on immune cells despite ubiquitous gene expression.

Main Methods:

  • Review of existing literature on DNA replication-associated IEIs.
  • Analysis of genetic defects in DNA replication factors.
  • Correlation of genetic mutations with observed immunologic defects and clinical manifestations.

Main Results:

  • DNA replication factor mutations represent an emerging class of IEI.
  • Heterogeneity in immunologic defects and clinical presentations is observed.
  • Differential sensitivity of leukocyte subsets to replication factor deficiencies is suggested.

Conclusions:

  • Mutations in DNA replication factors can lead to diverse IEIs.
  • Mechanistic insights are emerging to explain immune cell-specific effects.
  • Understanding these mechanisms is crucial for diagnosing and treating IEI.