Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation

Y Hashimoto, K Sadano, N Miyata, H Ito… - The EMBO …, 2023 - embopress.org
Abstract CMG (Cdc45‐MCM‐GINS) helicase assembly at the replication origin is the
culmination of eukaryotic DNA replication initiation. This process can be reconstructed in …

Discovery of a new hereditary RECQ helicase disorder RECON syndrome positions the replication stress response and genome homeostasis as centrally important …

A Datta, JA Sommers, SS Jhujh, T Harel… - Ageing research …, 2023 - Elsevier
Characterizing the molecular deficiencies underlying human aging has been a formidable
challenge as it is clear that a complex myriad of factors including genetic mutations …

Replication stress as a driver of cellular senescence and aging

LM Herr, ED Schaffer, KF Fuchs, A Datta… - Communications …, 2024 - nature.com
Replication stress refers to slowing or stalling of replication fork progression during DNA
synthesis that disrupts faithful copying of the genome. While long considered a nexus for …

Sustained inactivation of the Polycomb PRC1 complex induces DNA repair defects and genomic instability in epigenetic tumors

CC Rawal, V Loubiere, NL Butova, J Gracia… - Histochemistry and Cell …, 2024 - Springer
Cancer initiation and progression are typically associated with the accumulation of driver
mutations and genomic instability. However, recent studies demonstrated that cancer can …

DNA-PKcs-dependent phosphorylation of RECQL4 promotes NHEJ by stabilizing the NHEJ machinery at DNA double-strand breaks

H Lu, J Guan, SY Wang, GM Li, VA Bohr… - Nucleic acids …, 2022 - academic.oup.com
Non-homologous end joining (NHEJ) is the major pathway that mediates the repair of DNA
double-strand breaks (DSBs) generated by ionizing radiation (IR). Previously, the DNA …

[HTML][HTML] DONSON: Slding in 2 the limelight

GS Stewart - DNA repair, 2024 - Elsevier
For over a decade, it has been known that yeast Sld2, Dpb11, GINS and Polε form the pre-
loading complex (pre-LC), which is recruited to a CDC45-bound MCM2–7 complex by the …

Molecular and Cellular Responses to Ionization Radiation in Untransformed Fibroblasts from the Rothmund–Thomson Syndrome: Influence of the Nucleo-Shuttling of …

J Al-Choboq, M Nehal, L Sonzogni, A Granzotto… - Radiation, 2023 - mdpi.com
Simple Summary The molecular and cellular radiosensitivity associated with the Rothmund–
Thomson syndrome has been investigated in the framework of a mechanistic model based …

[HTML][HTML] DNA replication–associated inborn errors of immunity

M Willemsen, F Staels, M Gerbaux, J Neumann… - Journal of Allergy and …, 2023 - Elsevier
Inborn errors of immunity are a heterogeneous group of monogenic immunologic disorders
caused by mutations in genes with critical roles in the development, maintenance, or …

Rothmund-Thomson syndrome, a disorder far from solved

DJ Martins, R Di Lazzaro Filho, DR Bertola… - Frontiers in …, 2023 - frontiersin.org
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized
by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature …

De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants

C Jiang, H Zhang, C Zhao, L Wang, X Hu, Z Pan - Blood Science, 2023 - mednexus.org
Rothmund-Thomson syndrome (RTS) is a rare autosomal-recessive disorder with clinical
features consisting of rash, poikiloderma, sparse hair, short stature, juvenile cataracts …