Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. (Articolo in rivista) (literal)

Anno

• 2013-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1002/humu.22259 (literal)

Alternative label

• Soltys DT, Rocha CR, Lerner LK, de Souza TA, Munford V, Cabral F, Nardo T, Stefanini M, Sarasin A, Cabral-Neto JB, Menck CF. (2013)
  Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress.
  in Human mutation
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Soltys DT, Rocha CR, Lerner LK, de Souza TA, Munford V, Cabral F, Nardo T, Stefanini M, Sarasin A, Cabral-Neto JB, Menck CF. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni

• in press (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://onlinelibrary.wiley.com/doi/10.1002/humu.22259/abstract;jsessionid=7C535889C1CD6F8E9A262D1BE161CCDD.d02t03 (literal)

Rivista

• Human mutation (Rivista)

Note

• PubMe (literal)
• Scopu (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, SP, Brazil; Instituto de Biofísica Carlos Chagas Filho, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil; Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, Italy; Centre National de la Recherche Scientifique UMR8200, Institut Gustave Roussy, University Paris-Sud, Villejuif, France (literal)

Titolo

• Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. (literal)

Abstract

• Nucleotide excision repair (NER) is the most flexible of all known DNA-repair mechanisms, and XPG is a 3'-endonuclease that participates in NER. Mutations in this gene (ERCC5) may result in the human syndrome xeroderma pigmentosum (XP) and, in some cases, in the complex phenotype of Cockayne syndrome (CS). Two Brazilian XP siblings, who were mildly affected, were investigated and classified into the XP-G group. The cells from these patients were highly ultraviolet (UV) sensitive but not sensitive to photosensitized methylene blue, an agent that causes oxidative stress. This phenotype is in contrast to XP-G/CS cells, which are highly sensitive to this oxidative agent. Sequencing revealed a compound heterozygous genotype with two novel missense mutations: c.83C>A (p.Ala28Asp) and c.2904G>C (p.Trp968Cys). The first mutation maps to the catalytic site of the XPG protein, whereas the second may compromise binding to DNA. Functional assays indicated that the mutated alleles were unable to perform the complete repair of UV-irradiated plasmids; however, full correction was observed for oxidatively damaged plasmids. Therefore, the XP phenotype of these patients is caused by novel missense mutations that specifically affect DNA repair for UV- but not oxidative-stress-induced DNA damage, and implications for XP versus XP/CS phenotype are discussed. (literal)

Prodotto di

• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)
• Institute of molecular genetics (IGM) (Istituto)

Autore CNR

• TIZIANA NARDO (Persona)
• MIRIA STEFANINI (Unità di personale interno)

Insieme di parole chiave

• Keywords of "Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress." (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR di

• TIZIANA NARDO (Persona)
• MIRIA STEFANINI (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human mutation (Rivista)

Insieme di parole chiave di

• Keywords of "Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress." (Insieme di parole chiave)