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Role of senataxin in DNA damage and telomeric stability
- Source :
-
DNA Repair . Feb2011, Vol. 10 Issue 2, p199-209. 11p. - Publication Year :
- 2011
-
Abstract
- Abstract: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. The gene mutated in AOA2, SETX, encodes senataxin (SETX), a putative DNA/RNA helicase. The presence of the helicase domain led us to investigate whether SETX might play a role in DNA damage repair and telomere stability. We analyzed the response of AOA2 lymphocytes and lymphoblasts after treatment with camptothecin (CPT), mitomycin C (MMC), H2O2 and X-rays by cytogenetic and Q-FISH (quantitative-FISH) assays. The rate of chromosomal aberrations was normal in AOA2 cells after treatment with CPT, MMC, H2O2 and X-rays. Conversely, Q-FISH analysis showed constitutively reduced telomere length in AOA2 lymphocytes, compared to age-matched controls. Furthermore, CPT- or X-ray-induced telomere shortening was more marked in AOA2 than in control cells. The partial co-localization of SETX with telomeric DNA, demonstrated by combined immunofluorescence–Q-FISH and chromatin immunoprecipitation, suggests a possible involvement of SETX in telomere stability. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 15687864
- Volume :
- 10
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- DNA Repair
- Publication Type :
- Academic Journal
- Accession number :
- 57984024
- Full Text :
- https://doi.org/10.1016/j.dnarep.2010.10.012