The DNA damage response to transcription stress

Lans, Hannes; Hoeijmakers, Jan H.J.; Vermeulen, Wim; Marteijn, Jürgen A.

doi:10.1038/s41580-019-0169-4

Cited by 210 publications

(195 citation statements)

References 218 publications

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“…DNA lesions, such as pyrimidine dimers, interstrand crosslinks, or double-strand breaks (DSBs), are induced by many mechanisms that include UV radiation or free radicals. Repair of such damage is essential for DNA replication and, of particular importance for long-lived post-mitotic neuronal cells, transcription [386][387][388]. Proteins encoded by Bmi1, Dgcr8, Dicer1, Elp1, Ercc1, Ercc6, Msi1, Sirt6, Top2b, Ubb, and Uchl3 are known to participate in the DNA damage response [387,[389][390][391][392][393][394][395][396][397][398], some in transcription-coupled DNA repair.…”

Section: Category 10: Dna Repair Rna Biogenesis and Protein Modificmentioning

confidence: 99%

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

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Gogna

Chang

et al. 2020

Cells

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Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal models, particularly the laboratory mouse, have been used to understand the pathogenic mechanisms that underlie PR cell loss and to explore therapies that may prevent, delay, or reverse RD. Here, we reviewed entries in the Mouse Genome Informatics and PubMed databases to compile a comprehensive list of monogenic mouse models in which PR cell loss is demonstrated. The progression of PR cell loss with postnatal age was documented in mutant alleles of genes grouped by biological function. As anticipated, a wide range in the onset and rate of cell loss was observed among the reported models. The analysis underscored relationships between RD genes and ciliary function, transcription-coupled DNA damage repair, and cellular chloride homeostasis. Comparing the mouse gene list to human RD genes identified in the RetNet database revealed that mouse models are available for 40% of the known human diseases, suggesting opportunities for future research. This work may provide insight into the molecular players and pathways through which PR degenerative disease occurs and may be useful for planning translational studies.

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Section: Category 10: Dna Repair Rna Biogenesis and Protein Modificmentioning

confidence: 99%

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Collin

Gogna

Chang

et al. 2020

Cells

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“…This results in a hypomorph mutation, that largely (but not completely) abolishes its interaction with the XPF protein. ERCC1-XPF forms a heterodimeric structure-specific endonuclease that incises the damaged strand at some distance 5 of the lesion [7]. The allele has approximately 10% residual activity, causing impaired function of the protein, progressive accumulation of DNA damage, and numerous features of accelerated aging, which are strongly delayed by dietary restriction, the only universal anti-aging intervention [8].…”

Section: Introductionmentioning

confidence: 99%

“…Apart from that, ERCC1 is involved in other DNA repair systems such as double-strand break and cross-link repair [9]. Mutations in proteins of the NER pathway have shown severe effects on human health as evidenced in several human progeroid syndromes such as Cockayne syndrome, trichothiodystrophy, and Xpf-Ercc1 syndrome [7,10].…”

Section: Introductionmentioning

confidence: 99%

Local endothelial DNA repair deficiency causes aging-resembling endothelial-specific dysfunction

et al. 2020

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Figure 6. Vasodilation in coronary arteries measured ex vivo in small wire organ bath set-ups Relaxations to ACh (A), SNP-induced vasodilatation (B), ADPβS (C) and UTPγS (D) in coronary rings preconstricted with U46619. Relaxations to ADPβS (E) and UTPγS (F) in coronary rings preconstricted with KCl 30 mM. *** P<0.0001 (GLM-RM, EC-KO-3 months vs WT-3 months and EC-KO-5 months vs WT-5 months). At 3 months, coronary arteries from seven EC-KO and eight to ninr WT were studied. At 5 months, arteries from seven EC-KO and ten WT were studied. 738

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“…1 Besides participating to this repair pathway, proteins implicated in NER are also involved in other DNA repair mechanisms and in DNAassociated processes such as transcription and chromatin architecture. [2][3][4] Genetic defects in NER lead to a broad variety of autosomal recessive overlapping diseases, namely Cerebro-Oculo-Facio-Skeletal syndrome (COFS), Cockayne syndrome (CS), Xeroderma Pigmentosum (XP), Trichothiodystrophy (TTD), and UV-sensitive syndrome (UVSS). [5][6][7][8] Patients with CS, COFS, combined XP-CS phenotype or TTD display progressive neurodegenerative symptoms of varying severity, which play a leading role for the prognosis of these patients, as their life expectancy is variably reduced depending on the severity of these symptoms.…”

Section: Introductionmentioning

confidence: 99%

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

et al. 2020

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Nucleotide excision repair associated diseases comprise overlapping phenotypes and a wide range of outcomes. The early stages still remain under‐investigated and underdiagnosed, even although an early recognition of the first symptoms is of utmost importance for appropriate care and genetic counseling. We systematically collected clinical and molecular data from the literature and from newly diagnosed NER patients with neurological impairment, presenting clinical symptoms before the age of 12 months, including foetal cases. One hundred and eighty‐five patients were included, 13 with specific symptoms during foetal life. Arthrogryposis, microcephaly, cataracts, and skin anomalies are the most frequently reported signs in early subtypes. Non ERCC6/CSB or ERCC8/CSA genes are overrepresented compared to later onset cohorts: 19% patients of this cohort presented variants in ERCC1, ERCC2/XPD, ERCC3/XPB or ERCC5/XPG. ERCC5/XPG is even the most frequently involved gene in foetal cases (10/13 cases, [4/7 families]). In this cohort, the mutated gene, the age of onset, the type of disease, severe global developmental delay, IUGR and skin anomalies were associated with earlier death. This large survey focuses on specific symptoms that should attract the attention of clinicians towards early‐onset NER diagnosis in foetal and neonatal period, without waiting for the completeness of classical criteria.

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The DNA damage response to transcription stress

Cited by 210 publications

References 218 publications

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Local endothelial DNA repair deficiency causes aging-resembling endothelial-specific dysfunction

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

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