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

Common fragile sites.

M F Arlt1, A M Casper, T W Glover

  • 1Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-0618, USA.

Cytogenetic and Genome Research
|October 4, 2003
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

Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites.

Oncogene·2006
Same author

Genomic amplification of MET with boundaries within fragile site FRA7G and upregulation of MET pathways in esophageal adenocarcinoma.

Oncogene·2005
Same author

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

Journal of medical genetics·2001
Same author

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

American journal of human genetics·2001
Same author

Cloning, characterization and chromosome mapping of the human SOX6 gene.

Gene·2001
Same author

Translocation breakpoints in FHIT and FRA3B in both homologs of chromosome 3 in an esophageal adenocarcinoma.

Genes, chromosomes & cancer·2001

Common fragile sites are chromosomal regions prone to gaps or breaks during DNA replication stress. Recent research highlights the critical roles of ATR and BRCA1 genes in maintaining genome stability at these sites.

Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • Common fragile sites (CFS) are specific chromosomal regions susceptible to gaps or breaks under conditions of inhibited DNA synthesis.
  • These sites were initially observed during studies of fragile X syndrome and share induction conditions with the fragile X site.
  • CFS are typically stable but exhibit characteristics of unstable, recombinogenic DNA when induced by replication inhibitors.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying the stability of common fragile sites.
  • To elucidate the biological significance of common fragile sites in genome instability and tumorigenesis.
  • To understand the role of key checkpoint genes in maintaining genome integrity at fragile sites.

Main Methods:

Related Experiment Videos

  • Induction of fragile sites using replication inhibitors like aphidicolin.
  • Analysis of chromosomal aberrations and DNA synthesis patterns.
  • Examination of gene associations, replication timing, and sequence characteristics of fragile sites.
  • Investigation of the involvement of checkpoint genes ATR and BRCA1.

    • Main Results:

    • Common fragile sites are large, gene-associated regions with delayed replication and high sequence flexibility.
    • These sites are frequently deleted or rearranged in cancer cells, indicating their role in genome instability.
    • Recent findings demonstrate that checkpoint genes ATR and BRCA1 are essential for maintaining genome stability at common fragile sites.

    Conclusions:

    • The stability of common fragile sites is regulated by key checkpoint genes, including ATR and BRCA1.
    • Understanding these mechanisms is crucial for comprehending genome instability in tumorigenesis.
    • Further research into fragile sites offers insights into cancer development and potential therapeutic targets.