The plasticity of DNA replication forks in response to clinically relevant genotoxic stress

M Berti, D Cortez, M Lopes - Nature reviews Molecular cell biology, 2020 - nature.com
Complete and accurate DNA replication requires the progression of replication forks through
DNA damage, actively transcribed regions, structured DNA and compact chromatin. Recent …

The genetics of primary microcephaly

D Jayaraman, BI Bae, CA Walsh - Annual review of genomics …, 2018 - annualreviews.org
Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

In silico protein interaction screening uncovers DONSON's role in replication initiation

Y Lim, L Tamayo-Orrego, E Schmid, Z Tarnauskaite… - Science, 2023 - science.org
CDC45-MCM2-7-GINS (CMG) helicase assembly is the central event in eukaryotic
replication initiation. In yeast, a multi-subunit “pre-loading complex”(pre-LC) accompanies …

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

M Zimmermann, O Murina, MAM Reijns… - Nature, 2018 - nature.com
The observation that BRCA1-and BRCA2-deficient cells are sensitive to inhibitors of poly
(ADP–ribose) polymerase (PARP) has spurred the development of cancer therapies that use …

The structural mechanism of dimeric DONSON in replicative helicase activation

MA Cvetkovic, P Passaretti, A Butryn… - Molecular Cell, 2023 - cell.com
The MCM motor of the replicative helicase is loaded onto origin DNA as an inactive double
hexamer before replication initiation. Recruitment of activators GINS and Cdc45 upon S …

Structure of a human replisome shows the organisation and interactions of a DNA replication machine

ML Jones, Y Baris, MRG Taylor, JTP Yeeles - The EMBO journal, 2021 - embopress.org
The human replisome is an elaborate arrangement of molecular machines responsible for
accurate chromosome replication. At its heart is the CDC45‐MCM‐GINS (CMG) helicase …

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 …

DNSN-1 recruits GINS for CMG helicase assembly during DNA replication initiation in Caenorhabditis elegans

Y Xia, R Sonneville, M Jenkyn-Bedford, L Ji, C Alabert… - Science, 2023 - science.org
Assembly of the CMG (CDC-45–MCM-2-7–GINS) helicase is the key regulated step during
eukaryotic DNA replication initiation. Until now, it was unclear whether metazoa require …

DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation

G Kingsley, A Skagia, P Passaretti… - Nucleic Acids …, 2023 - academic.oup.com
Faithful cell division is the basis for the propagation of life and DNA replication must be
precisely regulated. DNA replication stress is a prominent endogenous source of genome …

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

L AlAbdi, S Maddirevula, HE Shamseldin… - Nature …, 2023 - nature.com
Despite large sequencing and data sharing efforts, previously characterized pathogenic
variants only account for a fraction of Mendelian disease patients, which highlights the need …