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 Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mismatch Repair01:36

Mismatch Repair

Overview
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

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...
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview

You might also read

Related Articles

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

Sort by
Same author

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

European journal of human genetics : EJHG·2026
Same author

An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice.

EBioMedicine·2026
Same author

Polymorphic CGG repeats in gene regulation and disease.

American journal of human genetics·2026
Same author

Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.

European journal of human genetics : EJHG·2026
Same author

CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats.

BMC genomics·2026
Same author

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Brain sciences·2026

Related Experiment Video

Updated: Jul 14, 2026

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP
09:46

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP

Published on: January 24, 2025

Fragile sites and human disease.

Kim Debacker1, R Frank Kooy

  • 1Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

Human Molecular Genetics
|June 15, 2007
PubMed
Summary

Fragile sites, genomic regions prone to breakage, are linked to human diseases. Recent discoveries of new fragile sites and associated genes prompt a re-evaluation of their role in conditions like cancer and mental retardation.

Area of Science:

  • Genetics and Molecular Biology
  • Human Disease Pathogenesis
  • Genomic Instability

Background:

  • Fragile sites are specific genomic regions exhibiting gaps or breaks on chromosomes.
  • Common fragile sites are linked to cancer, while rare fragile sites are associated with mental retardation.
  • Despite early links, only FRAXA and FRAXE rare fragile sites were cloned for mental retardation over a decade ago.

Purpose of the Study:

  • To re-evaluate the paradigm linking rare fragile sites to mental retardation.
  • To explore the role of newly identified fragile sites and their associated genes in human diseases.
  • To investigate the genomic architecture and repeat expansion mechanisms of fragile sites.

Main Methods:

  • Review of existing literature on fragile sites and associated diseases.

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Related Experiment Videos

Last Updated: Jul 14, 2026

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP
09:46

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP

Published on: January 24, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

  • Analysis of recent molecular cloning data for novel fragile sites.
  • Gene identification and characterization for newly discovered fragile sites.

    • Main Results:

    • Accumulated evidence supports the role of common fragile sites in cancer development.
    • A significant gap exists in cloning new rare fragile sites linked to mental retardation since FRAXA and FRAXE.
    • Recent cloning efforts have identified new fragile sites and their associated genes.

    Conclusions:

    • The recent identification of new fragile sites and genes necessitates revisiting their established roles in human diseases.
    • Fragile sites, particularly rare ones, may play a more significant role in mental retardation than currently understood.
    • Further research into the mechanisms and disease associations of newly discovered fragile sites is warranted.