Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

DNA damage processing defects and disease.

R E Moses1

  • 1Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, Oregon 97201, USA. mosesr@ohsu.edu

Annual Review of Genomics and Human Genetics
|November 10, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Topo IIIalpha and BLM act within the Fanconi anemia pathway in response to DNA-crosslinking agents.

Cytogenetic and genome research·2009
Same author

Loss of homologous recombination or non-homologous end-joining leads to radial formation following DNA interstrand crosslink damage.

Cytogenetic and genome research·2008
Same author

Mammalian SNM1 is required for genome stability.

Molecular genetics and metabolism·2008
Same author

S. cerevisiae has three pathways for DNA interstrand crosslink repair.

Mutation research·2001
Same author

Saccharomyces cerevisiae lacking Snm1, Rev3 or Rad51 have a normal S-phase but arrest permanently in G2 after cisplatin treatment.

Mutation research·2000
Same author

Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3.

American journal of human genetics·2000
Same journal

Common Principles Underlie Mitochondrial DNA Heteroplasmy Dynamics in the Germline and Soma.

Annual review of genomics and human genetics·2026
Same journal

Human Sex Chromosome Biology in the Genomic Era.

Annual review of genomics and human genetics·2026
Same journal

Beyond TADs and Compartments: Mesoscale Chromatin Folding and Its Dynamics in Transcriptional Regulation.

Annual review of genomics and human genetics·2026
Same journal

Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease.

Annual review of genomics and human genetics·2026
Same journal

How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models.

Annual review of genomics and human genetics·2026
Same journal

Synthetic Regulatory Genomics.

Annual review of genomics and human genetics·2026
See all related articles

Inherited DNA repair defects cause genomic instability and cancer. Subtle alterations in transcription, replication, or recombination lead to specific disease phenotypes and increased cancer risk.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • Inherited defects in DNA repair or damage processing can cause disease.
  • These conditions exhibit genomic instability and cancer predisposition.
  • Diseases can follow autosomal recessive or dominant inheritance patterns.

Purpose of the Study:

  • To investigate the link between inherited DNA processing defects and disease phenotypes.
  • To understand the role of specific DNA repair pathways in maintaining genomic stability.
  • To explore how partial loss of gene function contributes to disease.

Main Methods:

  • Analysis of inherited genetic defects affecting DNA repair and processing.
  • Characterization of DNA damage sensitivity in affected cells.

Related Experiment Videos

  • Examination of mutations in transcription, replication, and recombination pathways.

    • Main Results:

    • Defects in DNA repair or processing lead to genomic instability and cancer.
    • Affected cells show specific sensitivities to DNA damaging agents.
    • Subtle alterations in transcription, replication, or recombination are implicated.
    • Different mutations in a single gene can result in distinct clinical phenotypes.

    Conclusions:

    • Partial defects in transcription or recombination contribute to genomic instability and cancer.
    • Inherited DNA processing deficiencies result in characteristic disease phenotypes.
    • Understanding these defects is crucial for diagnosing and potentially treating associated diseases.