High-throughput assays to assess variant effects on disease

K Ma, LO Gauthier, F Cheung… - Disease Models & …, 2024 - journals.biologists.com
Interpreting the wealth of rare genetic variants discovered in population-scale sequencing
efforts and deciphering their associations with human health and disease present a critical …

[HTML][HTML] Quantifying DNA replication speeds in single cells by scEdU-seq

J van den Berg, V van Batenburg, C Geisenberger… - Nature …, 2024 - nature.com
In a human cell, thousands of replication forks simultaneously coordinate duplication of the
entire genome. The rate at which this process occurs might depend on the epigenetic state …

Cross-species investigation into the requirement of XPA for nucleotide excision repair

C Kose, X Cao, EB Dewey, M Malkoç… - Nucleic Acids …, 2024 - academic.oup.com
After reconstitution of nucleotide excision repair (excision repair) with XPA, RPA, XPC, TFIIH,
XPF-ERCC1 and XPG, it was concluded that these six factors are the minimal essential …

Nucleotide excision repair of aflatoxin-induced DNA damage within the 3D human genome organization

Y Wu, MM Adeel, D Xia, A Sancar… - Nucleic Acids Research, 2024 - academic.oup.com
Abstract Aflatoxin B1 (AFB1), a potent mycotoxin, is one of the environmental risk factors that
cause liver cancer. In the liver, the bioactivated AFB1 intercalates into the DNA double helix …

Magnesium isoglycyrrhizinate reduces the target-binding amount of cisplatin to mitochondrial DNA and renal injury through SIRT3

X Wang, H Zhu, J Hu, H Li, S Guo, B Chen… - International journal of …, 2022 - mdpi.com
Nephrotoxicity is the dose-limiting factor of cisplatin treatment. Magnesium isoglycyrrhizinate
(MgIG) has been reported to ameliorate renal ischemia–reperfusion injury. This study aimed …

Repair and DNA Polymerase Bypass of Clickable Pyrimidine Nucleotides

AV Endutkin, AV Yudkina, TD Zharkov, AE Barmatov… - Biomolecules, 2024 - mdpi.com
Clickable nucleosides, most often 5-ethynyl-2′-deoxyuridine (EtU), are widely used in
studies of DNA replication in living cells and in DNA functionalization for bionanotechology …

Most human DNA replication initiation is dispersed throughout the genome with only a minority within previously identified initiation zones

JT Carrington, RHC Wilson, S Thiyagarajan, T Barker… - bioRxiv, 2024 - biorxiv.org
The identification of sites of DNA replication initiation in mammalian cells has been
challenging. Here, we present unbiased detection of replication initiation events in human …

Proteomic profiling of UV damage repair patches uncovers histone chaperones with central functions in chromatin repair

A Plessier, A Chansard, E Petit, J Novion Ducassou… - bioRxiv, 2024 - biorxiv.org
DNA damage compromises not only genome stability but also the integrity of the chromatin
template, which plays a central role in controlling cell identity. Our understanding of …

Methods for Inferring Cell Cycle Parameters Using Thymidine Analogues

J Martí-Clúa - Biology, 2023 - mdpi.com
Simple Summary Several procedures have been developed to infer cell-cycle time and the
duration of the cycle phases, including tritiated thymidine autoradiography and the …

A genome-wide screen reveals that Dyrk1A kinase promotes nucleotide excision repair by preventing aberrant overexpression of cyclin D1 and p21

F Bélanger, C Roussel, C Sawchyn, E St-Hilaire… - Journal of Biological …, 2023 - ASBMB
Nucleotide excision repair (NER) eliminates highly genotoxic solar UV-induced DNA
photoproducts that otherwise stimulate malignant melanoma development. Here, a genome …