Nucleotide excision repair genes shaping embryonic development

Araújo, Sofia J.; Kuraoka, Isao

doi:10.1098/rsob.190166

Cited by 12 publications

(7 citation statements)

References 128 publications

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“…1 D , Right and SI Appendix , Fig. S2 A show that (6-4)PPs are not subject to substantial TCR at this resolution as is the case in human cells ( 4 , 19 ), even though in human cells TCR is mediated by CSB, CSA, and related proteins, whereas Drosophila lacks both CSB and CSA homologs ( 26 – 31 ).…”

Section: Resultsmentioning

confidence: 81%

CSB-independent, XPC-dependent transcription-coupled repair in Drosophila

Deger

Cao

Selby

et al. 2022

Proc. Natl. Acad. Sci. U.S.A.

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Drosophila melanogaster has been extensively used as a model system to study ionizing radiation and chemical-induced mutagenesis, double-strand break repair, and recombination. However, there are only limited studies on nucleotide excision repair in this important model organism. An early study reported that Drosophila lacks the transcription-coupled repair (TCR) form of nucleotide excision repair. This conclusion was seemingly supported by the Drosophila genome sequencing project, which revealed that Drosophila lacks a homolog to CSB, which is known to be required for TCR in mammals and yeasts. However, by using excision repair sequencing (XR-seq) genome-wide repair mapping technology, we recently found that the Drosophila S2 cell line performs TCR comparable to human cells. Here, we have extended this work to Drosophila at all its developmental stages. We find TCR takes place throughout the life cycle of the organism. Moreover, we find that in contrast to humans and other multicellular organisms previously studied, the XPC repair factor is required for both global and transcription-coupled repair in Drosophila.

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Section: Resultsmentioning

confidence: 81%

CSB-independent, XPC-dependent transcription-coupled repair in Drosophila

Deger

Cao

Selby

et al. 2022

Proc. Natl. Acad. Sci. U.S.A.

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“…The individual steps of nucleotide excision repair are well understood (Marteijn et al 2014;Spivak 2015;Araujo and Kuraoka 2019). In brief, during global genome repair, the dimeric UV photoproducts are recognized by the XPC/ RAD23B protein complex, which may be aided in chromatin by the UV-damaged DNA-binding protein (UV-DDB) complex exhibiting ubiquitin ligase activity.…”

Section: Repair Of Dimeric Dna Photoproductsmentioning

confidence: 99%

“…After stalling, the transcription-repair coupling factor CSB (mutated in Cockayne syndrome type B), in conjunction with CSA (mutated in Cockayne syndrome type A), aids in the backtracking of RNA polymerase II to make the UV lesions accessible to NER (Mullenders 2015;Pani and Nudler 2017). Following lesion recognition in either one of the two sub-pathways, the NER factors XPA and TFIIH, along with replication protein A (RPA), open and stabilize the DNA helix at the damage site and make it accessible to the lesion cleavage endonucleases XPF/ERCC1, which cleaves the lesion-containing strand of the DNA on the 5′ side of the lesion and XPG, which cleaves the same strand on the 3′ side of the lesion (Araujo and Kuraoka 2019). After this dual cleavage, a DNA fragment of 24-32 nucleotides is released that contains the dimerized pyrimidine.…”

Section: Repair Of Dimeric Dna Photoproductsmentioning

confidence: 99%

Mechanisms of UV-induced mutations and skin cancer

Pfeifer

2020

GENOME INSTAB. DIS.

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Ultraviolet (UV) irradiation causes various types of DNA damage, which leads to specific mutations and the emergence of skin cancer in humans, often decades after initial exposure. Different UV wavelengths cause the formation of prominent UV-induced DNA lesions. Most of these lesions are removed by the nucleotide excision repair pathway, which is defective in rare genetic skin disorders referred to as xeroderma pigmentosum. A major role in inducing sunlight-dependent skin cancer mutations is assigned to the cyclobutane pyrimidine dimers (CPDs). In this review, we discuss the mechanisms of UV damage induction, the genomic distribution of this damage, relevant DNA repair mechanisms, the proposed mechanisms of how UV-induced CPDs bring about DNA replication-dependent mutagenicity in mammalian cells, and the strong signature of UV damage and mutagenesis found in skin cancer genomes.Keywords Ultraviolet · UV · Cyclobutane pyrimidine dimer · (6-4) Photoproduct · Mutations · DNA repair · Skin cancer · Melanoma Abbreviations UV light Ultraviolet light CPD Cyclobutane pyrimidine dimer (6-4)PP Pyrimidine (6-4) pyrimidone photoproduct 8-oxo-dG 8-Oxo-7,8-dihydro-2′-deoxyguanosine XP Xeroderma pigmentosum NER Nucleotide excision repair 5mC 5-Methylcytosine

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“…Эксцизионная репарация нуклеотидов (nucleotide excision reparation, NER) -один из основных путей защиты клетки от различных повреждений, искажающих спираль ДНК. Мутации некоторых генов, кодирующих белки, участвующие в NER, приводят к развитию трех фенотипически различных наследственных заболеваний человека -пигментной ксеродермы, синдрома Коккейна и трихотиодистрофии [62].…”

Section: сегментарные прогероидные синдромы обусловленные дефектами эксцизионной репарации нуклеотидовunclassified

Hereditary syndromes with signs of premature aging

et al. 2020

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Aging is a multi-factor biological process that inevitably affects everyone. Degenerative processes, starting at the cellular and molecular levels, gradually influence the change in the functional capabilities of all organs and systems. Progeroid syndromes (from Greek. progērōs prematurely old), or premature aging syndromes, represent clinically and genetically heterogeneous group of rare hereditary diseases characterized by accelerated aging of the body. Progeria and segmental progeroid syndromes include more than a dozen diseases, but the most clear signs of premature aging are evident in Hutchinson-Guilford Progeria Syndrome and Werner Syndrome. This review summarizes the latest scientific data reflecting the etiology and clinical picture of progeria and segmental progeroid syndromes in humans. Molecular mechanisms of aging are considered, using the example of progeroid syndromes. Modern possibilities and potential ways of influencing the mechanisms of the development of age-related changes are discussed. Further study of genetic causes, as well as the development of treatment for progeria and segmental progeroid syndromes, may be a promising direction for correcting age-related changes and increasing life expectancy.

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Nucleotide excision repair genes shaping embryonic development

Cited by 12 publications

References 128 publications

CSB-independent, XPC-dependent transcription-coupled repair in Drosophila

CSB-independent, XPC-dependent transcription-coupled repair in Drosophila

Mechanisms of UV-induced mutations and skin cancer

Hereditary syndromes with signs of premature aging

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