ArticleProceedings of the National Academy of Sciences of the United States of America1997
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 46 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
46 citing papers in PubMed, 163 citations in OpenAlex.
- Cockayne syndrome mutation in XPG activate the integrated stress response.Human genetics · 2026Article
- Base Excision Repair: Mechanisms and Impact in Biology, Disease, and Medicine.International journal of molecular sciences · 2023Review
- Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering.Nature communications · 2019Article
- Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.Stem cell research & therapy · 2019Article
- Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.Frontiers in genetics · 2019Article
- The capacity of oocytes for DNA repair.Cellular and molecular life sciences : CMLS · 2018Review
- Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability.Molecular cell · 2016Article
- Regulation of Transcription Elongation by the XPG-TFIIH Complex Is Implicated in Cockayne Syndrome.Molecular and cellular biology · 2015Article
- Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.The Journal of investigative dermatology · 2015Review
- Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.PLoS genetics · 2014Article
- Hypomorphic PCNA mutation underlies a human DNA repair disorder.The Journal of clinical investigation · 2014Article
- Yeast RAD2, a homolog of human XPG, plays a key role in the regulation of the cell cycle and actin dynamics.Biology open · 2014Article
- Mammalian transcription-coupled excision repair.Cold Spring Harbor perspectives in biology · 2013Review
- Oxidative DNA damage and nucleotide excision repair.Antioxidants & redox signaling · 2013Review
- Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Expression of XPG protein in human normal and tumor tissues.International journal of clinical and experimental pathology · 2013Article
- Polymorphisms in the XPG gene and risk of gastric cancer in Chinese populations.Human genetics · 2012Article
- Lack of recognition by global-genome nucleotide excision repair accounts for the high mutagenicity and persistence of aristolactam-DNA adducts.Nucleic acids research · 2012Article
Corrections and comments
- Retraction · 2006-12-19Falsification/Fabrication of Data · Falsification/Fabrication of Results · Investigation by Company/Institution · Investigation by ORI · Misconduct - Official Investigation(s) and/or Finding(s) · Misconduct by Author · · NIH Finding of misconduct for Steven A Leadon, 6/8/2006;
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- Retracted
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Xeroderma pigmentosum (XP) patients have defects in nucleotide excision repair (NER), the versatile repair pathway that removes UV-induced damage and other bulky DNA adducts. Patients with Cockayne syndrome (CS), another rare sun-sensitive disorder, are specifically defective in the preferential removal of damage from the transcribed strand of active genes, a process known as transcription-coupled repair. These two disorders are usually clinically and genetically distinct, but complementation analyses have assigned a few CS patients to the rare XP groups B, D, or G. The XPG gene encodes a structure-specific endonuclease that nicks damaged DNA 3' to the lesion during NER. Here we show that three XPG/CS patients had mutations that would produce severely truncated XPG proteins. In contrast, two sibling XPG patients without CS are able to make full-length XPG, but with a missense mutation that inactivates its function in NER. These results suggest that XPG/CS mutations abolish interactions required for a second important XPG function and that it is the loss of this second function that leads to the CS clinical phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.