Photosensitive human syndromes

Spivak, Graciela; Hanawalt, Philip C.

doi:10.1016/j.mrfmmm.2014.11.003

Cited by 21 publications

(17 citation statements)

References 58 publications

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“…Various recent review articles have covered the roles of human GGR and TCR factors and presented hypothetical models for the overall mechanisms and their steps, and for relationships between mutant NER factors and the phenotypes of syndromes resulting from the mutations (Gaillard and Aguilera 2013; Iyama and Wilson 2013; Mullenders 2015; Spivak 2015; Spivak and Ganesan 2014; Spivak and Hanawalt 2015; Vermeulen and Fousteri 2013). Since the discovery of TCR in the 1980s in the Hanawalt laboratory, many of the underlying genetic and biochemical details have been elucidated, but several areas still need clarification.…”

Section: Global and Transcription-coupled Repair In Human Cellsmentioning

confidence: 99%

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Transcription-coupled repair: an update

Spivak

2016

Arch Toxicol

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Nucleotide excision repair (NER) is a versatile pathway that removes helix-distorting DNA lesions from the genomes of organisms across the evolutionary scale, from bacteria to humans. The serial steps in NER involve recognition of lesions, adducts or structures that disrupt the DNA double helix, removal of a short oligonucleotide containing the offending lesion, synthesis of a repair patch copying the opposite undamaged strand, and ligation, to restore the DNA to its original form. Transcription-coupled repair (TCR) is a subpathway of NER dedicated to the repair of lesions that, by virtue of their location on the transcribed strands of active genes, encumber elongation by RNA polymerases. In this review, I report on recent findings that contribute to the elucidation of TCR mechanisms in the bacterium Escherichia coli, the yeast Saccharomyces cerevisiae and human cells. I review general models for the biochemical pathways and how and when cells might choose to utilize TCR or other pathways for repair or bypass of transcription-blocking DNA alterations.

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Section: Global and Transcription-coupled Repair In Human Cellsmentioning

confidence: 99%

“…Mutations that result in null or reduced functionality of NER proteins cause mild to extreme photosensitivity in humans (reviewed in Spivak and Hanawalt 2015). Xeroderma pigmentosum (XP) was the first disease ascribed to a defect in DNA repair (Cleaver 1968).…”

Section: Introductionmentioning

confidence: 99%

Transcription-coupled repair: an update

Spivak

2016

Arch Toxicol

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“…NER in eukaryotes has been the subject of extensive reviews, for example [3, 4], and human disorders caused by defective NER have been described [5-7]. The sequence of events in human GGR is the same as that in unicellular prokaryotes, but the process is more complicated and the number of proteins involved is much larger than in E. coli , as shown in Figure 1.…”

Section: Global and Transcription-coupled Repair In Human Cellsmentioning

confidence: 99%

Nucleotide excision repair in humans

2015

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The demonstration of DNA damage excision and repair replication by Setlow, Howard-Flanders, Hanawalt and their colleagues in the early 1960s, constituted the discovery of the ubiquitous pathway of nucleotide excision repair (NER). The serial steps in NER are similar in organisms from unicellular bacteria to complex mammals and plants, and involve recognition of lesions, adducts or structures that disrupt the DNA double helix, removal of a short oligonucleotide containing the offending lesion, synthesis of a repair patch copying the opposite undamaged strand, and ligation, to restore the DNA to its original form. The transcription-coupled repair (TCR) subpathway of NER, discovered nearly two decades later, is dedicated to the removal of lesions from the template DNA strands of actively transcribed genes. In this review I will outline the essential factors and complexes involved in NER in humans, and will comment on additional factors and metabolic processes that affect the efficiency of this important process.

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“…Few reported cases of this disorder exist, six in Japanese individuals and two in Caucasians . Three known complementation groups have been identified with mutations in CSA, CBB and UVSSA genes causing deficiency in transcription‐coupled repair while maintaining functional global genomic DNA repair mechanisms . Clinical features include erythema from minimal UVR exposure, xerosis and freckling or dyspigmentation in photodistributed areas.…”

Section: Photosensitivity Associated With Defective Dna Repair Mechanmentioning

confidence: 99%

Photodermatoses in skin of colour

Gutiérrez

Gaulding

Beltran

et al. 2018

Acad Dermatol Venereol

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Photodermatoses represent a heterogeneous collection of disorders unified by the characteristic of being provoked through exposure to ultraviolet radiation. Generally, these conditions are classified into the following categories: immunologically mediated photodermatoses, chemical- and drug-induced photosensitivity, photoaggravated dermatoses and photosensitivity associated with defective DNA repair mechanisms or chromosomal instabilities. The list of photodermatoses is extensive, and each individual photodermatosis is understood to a different extent. Regardless, there exists a paucity of information with regards to the clinical presentation among those with skin of colour. With ever-changing global demographics, recognition of photosensitive disorders in a diverse population is essential for accurate diagnoses and therapeutic guidance. The scope of this article seeks to review the epidemiology and clinical variability in presentation of such photodermatoses in patients with skin of colour.

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Photosensitive human syndromes

Cited by 21 publications

References 58 publications

Transcription-coupled repair: an update

Transcription-coupled repair: an update

Nucleotide excision repair in humans

Photodermatoses in skin of colour

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