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 Video

Updated: May 9, 2026

piggyBac Transposon System Modification of Primary Human T Cells
10:02

piggyBac Transposon System Modification of Primary Human T Cells

Published on: November 5, 2012

Progressive GAA.TTC repeat expansion in human cell lines.

Scott Ditch1, Mimi C Sammarco, Ayan Banerjee

  • 1Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA.

Plos Genetics
|October 31, 2009
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

Macrophage metabolism directs regenerative versus fibrotic healing through BMP signaling in the mouse digit tip.

bioRxiv : the preprint server for biology·2026
Same author

Photophoretic Trapping: Fundamentals, Advances, and Future Directions.

Chemphyschem : a European journal of chemical physics and physical chemistry·2026
Same author

Harvesting the Spin-Orbit Interaction of Light to Generate Helicity-Dependent Complex Rotational Motion in Optically Trapped Mesoscopic Matter.

Nanophotonics (Berlin, Germany)·2026
Same author

Diagnostic Performance of ANCA Testing Across Three Platforms with and without Coexisting ANA Positivity: Experience from a Tertiary Healthcare Centre in India.

Mediterranean journal of rheumatology·2026
Same author

Relationship of Circulatory Markers of NETosis with COVID-19 Severity: A Prospective Cohort Study.

Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine·2026
Same author

Osteoprogenitor cells from non-regenerative bone show greater resistance to cellular stress than those from regenerative bone.

Frontiers in cell and developmental biology·2026
Same journal

Genetic survey of biomarkers at early and mid-pregnancy identifies pregnancy-specialized immune regulation.

PLoS genetics·2026
Same journal

Argonaute proteins orchestrate Meiotic Sex Chromosome Inactivation and timing of the spermatogenic transcriptional program.

PLoS genetics·2026
Same journal

Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer's disease and related dementias in a multi-site autopsy cohort.

PLoS genetics·2026
Same journal

Microtubule stiffening by the doublecortin-domain protein ZYG-8 contributes to mitotic spindle orientation during zygote division in Caenorhabditis elegans.

PLoS genetics·2026
Same journal

Multiple instance fine-mapping: Predicting causal regulatory variants with a deep sequence model.

PLoS genetics·2026
Same journal

Nuclear ubiquitin-conjugating enzyme TrUbc4 and F-box protein TrFwd1-mediated modification of Cre1 in Trichoderma reesei establishes a regulatory mechanism for carbon catabolite repression.

PLoS genetics·2026
See all related articles

A new human cell model reveals that GAA.TTC repeat expansions, the cause of Friedreich

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Trinucleotide repeat expansion underlies numerous inherited neurological disorders, including Friedreich ataxia (FRDA).
  • FRDA results from GAA.TTC repeat expansion in the FXN gene, leading to reduced FXN mRNA expression and progressive neurodegeneration.
  • Somatic expansion of these repeats may drive disease progression with aging, but previous models lacked efficiency in studying expansion mechanisms.

Purpose of the Study:

  • To develop and utilize a novel human cell model for studying GAA.TTC repeat expansion.
  • To investigate the relationship between repeat length and expansion rates.
  • To identify factors influencing GAA.TTC expansion, such as repeat purity, orientation, and transcription.

Main Methods:

  • Development of a human cell model to study GAA.TTC repeat instability.

More Related Videos

Improved Generation of Induced Cardiomyocytes Using a Polycistronic Construct Expressing Optimal Ratio of Gata4, Mef2c and Tbx5
10:05

Improved Generation of Induced Cardiomyocytes Using a Polycistronic Construct Expressing Optimal Ratio of Gata4, Mef2c and Tbx5

Published on: November 13, 2015

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
05:22

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Published on: September 13, 2024

Related Experiment Videos

Last Updated: May 9, 2026

piggyBac Transposon System Modification of Primary Human T Cells
10:02

piggyBac Transposon System Modification of Primary Human T Cells

Published on: November 5, 2012

Improved Generation of Induced Cardiomyocytes Using a Polycistronic Construct Expressing Optimal Ratio of Gata4, Mef2c and Tbx5
10:05

Improved Generation of Induced Cardiomyocytes Using a Polycistronic Construct Expressing Optimal Ratio of Gata4, Mef2c and Tbx5

Published on: November 13, 2015

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
05:22

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Published on: September 13, 2024

  • Analysis of repeat expansion rates in relation to initial repeat length.
  • Utilizing reporter constructs to assess the role of transcription in repeat expansion.

    • Main Results:

    • The novel model demonstrates high genomic instability and progressive expansion of uninterrupted GAA.TTC repeats.
    • An expansion rate increase was observed between 88 and 176 repeats, identifying a critical length threshold.
    • Expansion is influenced by repeat tract purity and orientation and is independent of cell division; transcription significantly contributes to expansion.

    Conclusions:

    • The developed human cell model effectively studies GAA.TTC expansion dynamics.
    • Key factors influencing repeat expansion, including length, purity, orientation, and transcription, have been identified.
    • These findings offer new insights into the molecular mechanisms driving GAA.TTC repeat expansion in human cells.