Related Experiment Video

Updated: Jun 6, 2026

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer
08:34

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer

Published on: April 13, 2015

Role of senataxin in DNA damage and telomeric stability

Andrea De Amicis1, Maria Piane, Francesca Ferrari

  • 1II School of Medicine, Department of Clinical and Molecular Medicine, University La Sapienza, Roma, Italy. andrea.deamicis@unirom

DNA Repair
|November 30, 2010
PubMed

Insights

Ataxia with oculomotor apraxia type 2 (AOA2) involves the SETX gene and impacts telomere length. This study found reduced telomere length and increased shortening in AOA2 cells, suggesting SETX

Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Genomics

Background:

  • Ataxia with oculomotor apraxia type 2 (AOA2) is a neurodegenerative disorder.
  • The SETX gene, encoding senataxin, is implicated in AOA2.
  • Senataxin's helicase domain suggests roles in DNA repair and telomere maintenance.

Purpose of the Study:

  • To investigate the role of senataxin (SETX) in DNA damage repair and telomere stability in AOA2.
  • To analyze the cellular response of AOA2 patients' cells to DNA damaging agents.

Main Methods:

  • Cytogenetic assays and quantitative-FISH (Q-FISH) were used.
  • AOA2 lymphocytes and lymphoblasts were treated with camptothecin, mitomycin C, H₂O₂, and X-rays.
  • Immunofluorescence and chromatin immunoprecipitation were employed to assess SETX localization.

Main Results:

  • Chromosomal aberration rates were normal in AOA2 cells post-treatment.
  • AOA2 lymphocytes exhibited constitutively reduced telomere length compared to controls.
  • CPT or X-ray treatment induced more significant telomere shortening in AOA2 cells.

Conclusions:

  • SETX may play a role in maintaining telomere stability.
  • AOA2 is associated with intrinsic telomere length reduction and increased susceptibility to telomere shortening.
  • Further research into SETX function in telomere maintenance is warranted.

More Related Videos

Analyzing Telomeric Protein-DNA Interactions Using Single-Molecule Magnetic Tweezers11:21

Analyzing Telomeric Protein-DNA Interactions Using Single-Molecule Magnetic Tweezers

Published on: August 30, 2024

Telomere Length and Telomerase Activity; A Yin and Yang of Cell Senescence12:08

Telomere Length and Telomerase Activity; A Yin and Yang of Cell Senescence

Published on: May 22, 2013

Related Concept Videos

Telomeres and Telomerase02:41

Telomeres and Telomerase

In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded DNA.
Telomeres and Telomerase02:41

Telomeres and Telomerase

In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded DNA.
Replicative Cell Senescence02:15

Replicative Cell Senescence

Replicative cell senescence is a property of cells that allows them to divide a finite number of times throughout the organism's lifespan while preventing excessive proliferation. Replicative senescence is associated with the gradual loss of the telomere — short, repetitive DNA sequences found at the end of the chromosomes. Telomeres are bound by a group of proteins to form a protective cap on the ends of chromosomes. Embryonic stem cells express telomerase — an enzyme that adds the telomeric...
Replicative Cell Senescence02:15

Replicative Cell Senescence

Replicative cell senescence is a property of cells that allows them to divide a finite number of times throughout the organism's lifespan while preventing excessive proliferation. Replicative senescence is associated with the gradual loss of the telomere — short, repetitive DNA sequences found at the end of the chromosomes. Telomeres are bound by a group of proteins to form a protective cap on the ends of chromosomes. Embryonic stem cells express telomerase — an enzyme that adds the telomeric...
Replication in Eukaryotes01:29

Replication in Eukaryotes

In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before cell division, so there are many proteins that fulfill specialized roles in the replication process. Replication occurs in three phases: initiation, elongation, and termination, and ends with two complete sets of chromosomes in the nucleus.
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...
Replication in Eukaryotes02:31

Replication in Eukaryotes

Overview