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Page 1
Genetics of ovarian insufficiency and defects of folliculogenesis.
França MM, Mendonca BB. França MM, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101594. doi: 10.1016/j.beem.2021.101594. Epub 2021 Oct 14. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 34794894 Review.
In addition, the majority of genes associated with nonsyndromic POI, widely expanded by high-throughput techniques over the last decade, have been implicated in ovarian development and meiosis/DNA repair pathways (ATG7, ATG9, ANKRD31, BMP8B, BMP15, BMPR1A, BMPR1B, BMPR2, BNC1, BR …
In addition, the majority of genes associated with nonsyndromic POI, widely expanded by high-throughput techniques over the last decade, hav …
Transcription-Coupled Nucleotide Excision Repair and the Transcriptional Response to UV-Induced DNA Damage.
Nieto Moreno N, Olthof AM, Svejstrup JQ. Nieto Moreno N, et al. Annu Rev Biochem. 2023 Jun 20;92:81-113. doi: 10.1146/annurev-biochem-052621-091205. Epub 2023 Apr 11. Annu Rev Biochem. 2023. PMID: 37040775 Free article. Review.
Here, we first summarize the current understanding of these repair mechanisms, specifically focusing on the roles of stalled RNA polymerase II, Cockayne syndrome protein B (CSB), CSA and UV-stimulated scaffold protein A (UVSSA) in TC-NER. ...Finally, we describe the …
Here, we first summarize the current understanding of these repair mechanisms, specifically focusing on the roles of stalled RNA polymerase …
Transcription-coupled repair of DNA-protein cross-links depends on CSA and CSB.
Carnie CJ, Acampora AC, Bader AS, Erdenebat C, Zhao S, Bitensky E, van den Heuvel D, Parnas A, Gupta V, D'Alessandro G, Sczaniecka-Clift M, Weickert P, Aygenli F, Götz MJ, Cordes J, Esain-Garcia I, Melidis L, Wondergem AP, Lam S, Robles MS, Balasubramanian S, Adar S, Luijsterburg MS, Jackson SP, Stingele J. Carnie CJ, et al. Nat Cell Biol. 2024 May;26(5):797-810. doi: 10.1038/s41556-024-01391-1. Epub 2024 Apr 10. Nat Cell Biol. 2024. PMID: 38600235 Free PMC article.
Using genetic screens and a method for the genome-wide mapping of DNA-protein adducts, DPC sequencing, we discover that Cockayne syndrome (CS) proteins CSB and CSA provide resistance to DPC-inducing agents by promoting DPC repair in actively transcribed genes. Conse …
Using genetic screens and a method for the genome-wide mapping of DNA-protein adducts, DPC sequencing, we discover that Cockayne synd …
Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome.
Crochemore C, Chica C, Garagnani P, Lattanzi G, Horvath S, Sarasin A, Franceschi C, Bacalini MG, Ricchetti M. Crochemore C, et al. Aging Cell. 2023 Oct;22(10):e13959. doi: 10.1111/acel.13959. Epub 2023 Sep 8. Aging Cell. 2023. PMID: 37688320 Free PMC article.
Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS) are rare genetic disorders caused by mutation of the DNA repair and multifunctional CSA or CSB protein, but only CS patients display a progeroid and neurodegenerative phenotype, providing a unique conceptual an …
Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS) are rare genetic disorders caused by mutation of the DNA repair and multifunc …
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet C, Cavkaytar S, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M. Heddar A, et al. EBioMedicine. 2022 Oct;84:104246. doi: 10.1016/j.ebiom.2022.104246. Epub 2022 Sep 10. EBioMedicine. 2022. PMID: 36099812 Free PMC article.
We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. ...
We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously …
The ARK2N-CK2 complex initiates transcription-coupled repair through enhancing the interaction of CSB with lesion-stalled RNAPII.
Luo Y, Li J, Li X, Lin H, Mao Z, Xu Z, Li S, Nie C, Zhou XA, Liao J, Xiong Y, Xu X, Wang J. Luo Y, et al. Proc Natl Acad Sci U S A. 2024 Jun 11;121(24):e2404383121. doi: 10.1073/pnas.2404383121. Epub 2024 Jun 6. Proc Natl Acad Sci U S A. 2024. PMID: 38843184 Free PMC article.
The ARK2N-CK2 complex is recruited to damage sites through CSB and then phosphorylates CSB. Phosphorylation of CSB enhances its binding to stalled RNAPII, prolonging the association of CSB with chromatin and promoting CSA-mediated ubiquitination of sta …
The ARK2N-CK2 complex is recruited to damage sites through CSB and then phosphorylates CSB. Phosphorylation of CSB enha …
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two causative genes ERCC6 (CS type B) and ERCC8 …
(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characteriz …
Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation.
Zhang X, Xu J, Hu J, Zhang S, Hao Y, Zhang D, Qian H, Wang D, Fu XD. Zhang X, et al. Nat Commun. 2024 Jul 17;15(1):6031. doi: 10.1038/s41467-024-50298-w. Nat Commun. 2024. PMID: 39019869 Free PMC article.
Mutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mice, but premature aging and severe neurodevelopmental defects in humans. ...During investigating Cockayne Syndrome-associated genome instability, we uncover an intrinsic mechanism that in …
Mutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mice, but premature aging and severe neurodevelopmental …
Elf1 promotes Rad26's interaction with lesion-arrested Pol II for transcription-coupled repair.
Sarsam RD, Xu J, Lahiri I, Gong W, Li Q, Oh J, Zhou Z, Hou P, Chong J, Hao N, Li S, Wang D, Leschziner AE. Sarsam RD, et al. Proc Natl Acad Sci U S A. 2024 Jan 16;121(3):e2314245121. doi: 10.1073/pnas.2314245121. Epub 2024 Jan 9. Proc Natl Acad Sci U S A. 2024. PMID: 38194460 Free PMC article.
Transcription-coupled nucleotide excision repair (TC-NER) is a highly conserved DNA repair pathway that removes bulky lesions in the transcribed genome. Cockayne syndrome B protein (CSB), or its yeast ortholog Rad26, has been known for decades to play important role …
Transcription-coupled nucleotide excision repair (TC-NER) is a highly conserved DNA repair pathway that removes bulky lesions in the transcr …
Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging.
Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B. Rieckher M, et al. Nucleic Acids Res. 2024 Aug 12;52(14):8271-8285. doi: 10.1093/nar/gkae519. Nucleic Acids Res. 2024. PMID: 38894680 Free PMC article.
Our results reveal three distinct modes of repair of FA-induced DNA damage: Transcription-coupled repair (TCR) operating NER-independently during developmental growth or through NER during adulthood, and, in concert with global-genome (GG-) NER, in the germline and early embryoni …
Our results reveal three distinct modes of repair of FA-induced DNA damage: Transcription-coupled repair (TCR) operating NER-independently d …
51 results