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Related Concept Videos

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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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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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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The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
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Study of the DNA Damage Checkpoint using Xenopus Egg Extracts
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Chromothripsis, DNA repair and checkpoints defects.

Milena Simovic1, Aurélie Ernst2

  • 1Group Genome Instability in Tumors, German Cancer Research Centre (DKFZ), Heidelberg, Germany; Faculty of Biosciences, Heidelberg University, Germany.

Seminars in Cell & Developmental Biology
|February 16, 2021
PubMed
Summary

Chromothripsis causes massive chromosome rearrangements, driving cancer and congenital diseases. Understanding its DNA repair mechanisms reveals potential therapeutic targets for eliminating cancer cells.

Keywords:
ChromothripsisComplex genome rearrangementsDNA repairGenome instability

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Area of Science:

  • Genetics
  • Genomics
  • Cancer Biology

Background:

  • Chromothripsis is a significant driver of genomic instability, characterized by extensive DNA fragmentation and chaotic rejoining on limited chromosomes.
  • This process critically underlies oncogenesis and the pathogenesis of congenital disorders.
  • It results in profound alterations, including oncogene activation and tumor suppressor gene inactivation.

Purpose of the Study:

  • To review the DNA repair pathways implicated in chromothripsis.
  • To explore the interplay between DNA repair/checkpoint defects and chromothripsis.
  • To discuss the clinical relevance and therapeutic vulnerabilities associated with chromothripsis.

Main Methods:

  • Literature review of studies on chromothripsis and DNA repair.
  • Analysis of mechanisms underlying chromosome fragmentation and rejoining.
  • Examination of genetic defects contributing to or resulting from chromothripsis.

Main Results:

  • Chromothripsis involves error-prone repair of numerous DNA double-strand breaks, leading to complex genomic rearrangements.
  • Defects in DNA repair and cell-cycle checkpoints can initiate chromothripsis.
  • Conversely, chromothripsis itself can induce secondary DNA repair deficiencies.

Conclusions:

  • Chromothripsis is a complex genomic event with significant roles in cancer and developmental diseases.
  • Understanding the DNA repair dynamics is crucial for elucidating its mechanisms.
  • Targeting the resulting therapeutic vulnerabilities offers potential strategies for cancer treatment.