Xeroderma Pigmentosum Group F Caused by a Defect in a Structure-Specific DNA Repair Endonuclease

Sijbers, Anneke M.; Laat, Wouter de; Ariza, Rafael R.; Biggerstaff, Maureen; Wei, Yu-Ling; Moggs, Jonathan G.; Carter, Kenneth C.; Shell, Brenda K.; Evans, Elizabeth L.; Jong, Mariska C. de; Rademakers, Suzanne; Rooij, Johan de; Jaspers, Nicolaas G. J.; Hoeijmakers, Jan H.J.; Wood, Richard D.

doi:10.1016/s0092-8674(00)80155-5

Cited by 491 publications

(435 citation statements)

References 48 publications

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“…The DNA unwinding activity of TFIIH generates a central nucleoprotein intermediate, in which the duplex undergoes partial melting by about 25 nucleotides [16][17][18]. This open intermediate is framed by "Y-shaped" double-to single-stranded junctions, which constitute a preferred substrate for the structure-specific DNA endonucleases XPF and XPG [19,20]. The 5' incision by XPF-ERCC1 precedes the 3' incision by XPG [21].…”

Section: Overview Of the Ggr Pathwaymentioning

confidence: 99%

Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein

Clement

Camenisch

Jia

et al. 2010

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

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Section: Overview Of the Ggr Pathwaymentioning

confidence: 99%

Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein

Clement

Camenisch

Jia

et al. 2010

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

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“…ERCC1, together with its binding partner XPF, form a key NER endonuclease important for both NER and DNA cross-link repair pathways (Niedernhofer et al, 2004;Sijbers et al, 1996). In addition, ERCC1 may be important for maintenance of telomere integrity by removing the 3′ overhang of uncapped telomeres and preventing telomere fusions (Zhu et al, 2003).…”

Section: Suppression Of Igf-1 Signaling By Dna Damagementioning

confidence: 99%

How does suppression of IGF-1 signaling by DNA damage affect aging and longevity?

Hinkal

Donehower

2008

Mechanisms of Ageing and Development

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Long-lived animals have evolved a robust set of defenses to maintain genomic integrity over their entire lifespan. The DNA damage response and DNA repair pathways are critical pillars of organismal defenses, minimizing somatic mutations in both post-mitotic and mitotic cells. These genomic maintenance systems not only prevent the premature emergence of cancers, but may also maintain normal tissue function and organismal longevity. Genetic defects in a number of DNA repair and DNA damage response genes often leads to a dramatic increase in cancer incidence; in other cases, premature aging or progeroid syndromes may be induced. In this review, we discuss two recent reports of two nucleotide excision repair deficient models that exhibit dramatic premature aging and shortened longevity. The DNA repair defects were also associated with a significant inhibition of the growth hormone/insulin-like growth factor 1 (GH/IGF-1) axis, an endocrine signaling pathway shown to influence aging and longevity in both vertebrates and invertebrates. Potential mechanisms of how DNA damage might affect IGF-1 signaling and aging are discussed, with a particular emphasis on the role of such signaling alterations in the adult tissue stem cell compartments.

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“…The partially purified eluate, resulting from TEV cleavage, hereafter referred to as TEV-Slx1, was incubated with various model DNA substrates under defined reaction conditions. A stem-loop structure (SL) consisting of a 22-nucleotide (nt) single-strand (ss) loop and a duplex stem of 12 base pairs was obtained with a partially self-complementary oligonucleotide (Sijbers et al, 1996). This type of structure allows detection of ss incisions made in duplex DNA on the 5Ј or 3Ј side of a junction with ss DNA.…”

Section: Molecular Biology Of the Cell 72mentioning

confidence: 99%

Slx1-Slx4 Are Subunits of a Structure-specific Endonuclease That Maintains Ribosomal DNA in Fission Yeast

Coulon

Gaillard

Chahwan

et al. 2004

MBoC

109

173

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In most eukaryotes, genes encoding ribosomal RNAs (rDNA) are clustered in long tandem head-to-tail repeats. Studies of Saccharomyces cerevisiae have indicated that rDNA copy number is maintained through recombination events associated with site-specific blockage of replication forks (RFs). Here, we describe two Schizosaccharomyces pombe proteins, homologs of S. cerevisiae Slx1 and Slx4, as subunits of a novel type of endonuclease that maintains rDNA copy number. The Slx1-Slx4 -dependent endonuclease introduces single-strand cuts in duplex DNA on the 3 side of junctions with single-strand DNA. Deletion of Slx1 or Rqh1 RecQ-like DNA helicase provokes rDNA contraction, whereas simultaneous elimination of Slx1-Slx4 endonuclease and Rqh1 is lethal. Slx1 associates with chromatin at two foci characteristic of the two rDNA repeat loci in S. pombe. We propose a model in which the Slx1-Slx4 complex is involved in the control of the expansion and contraction of the rDNA loci by initiating recombination events at stalled RFs. INTRODUCTIONAccurate duplication of a eukaryotic genome depends on highly proficient DNA replication machinery acting in conjunction with DNA repair and checkpoint signaling pathways Osborn et al., 2002). Repair and checkpoint systems are vital because replisomes stall when they encounter DNA damage, protein complexes, or torsional stress. Arrested replication forks (RFs) are prone to rearrangement or collapse. Studies of bacteria have shown that stalled forks can be rescued through either recombinogenic or nonrecombinogenic pathways (Seigneur et al., 1998;Cox et al., 2000;Seigneur et al., 2000;Cox, 2001;McGlynn and Lloyd, 2002).Recent studies have indicated that eukaryotes rescue stalled forks by mechanisms similar to those proposed to act in prokaryotes (Doe et al., 2000;Cox, 2001). A conserved family of eukaryotic DNA helicases related to Escherichia coli RecQ helicase seems to play a central role in the rescue of stalled forks through a nonrecombinogenic mechanism (Doe et al., 2000;Cox, 2001;Hickson et al., 2001). The crucial role of these RecQ-related helicases in maintenance of genome integrity is underscored by the pleiotropic phenotypes of the human Bloom, Werner, and Rothmund-Thomson syndromes associated with defects in BLM, WRN, and RecQ4 proteins, respectively. These hereditary disorders are characterized by high genomic instability, cancer predisposition and, in the case of Werner syndrome, also premature aging (Shen and Loeb, 2000). In budding yeast, Saccharomyces cerevisiae and fission yeast Schizosaccharomyces pombe, mutations in the genes encoding the RecQ-related helicases Sgs1 and Rqh1, respectively, are associated with hyper-recombination phenotypes. The sgs1 phenotype is characterized by an increase in intra-and interchromosomal recombination, especially at the tandem repeated ribosomal DNA (rDNA) loci (Watt et al., 1995;Sinclair and Guarente, 1997), whereas rqh1 mutants are unable to segregate their chromosomes properly under conditions that stall replication (Stewart et al., 1997...

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Xeroderma Pigmentosum Group F Caused by a Defect in a Structure-Specific DNA Repair Endonuclease

Cited by 491 publications

References 48 publications

Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein

Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein

How does suppression of IGF-1 signaling by DNA damage affect aging and longevity?

Slx1-Slx4 Are Subunits of a Structure-specific Endonuclease That Maintains Ribosomal DNA in Fission Yeast

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