Homologous recombination and the formation of complex genomic rearrangements

A Piazza, WD Heyer - Trends in cell biology, 2019 - cell.com
The maintenance of genome integrity involves multiple independent DNA damage
avoidance and repair mechanisms. However, the origin and pathways of the focal …

DNA polymerase ζ in DNA replication and repair

SK Martin, RD Wood - Nucleic acids research, 2019 - academic.oup.com
Here, we survey the diverse functions of DNA polymerase ζ (pol ζ) in eukaryotes. In
mammalian cells, REV3L (3130 residues) is the largest catalytic subunit of the DNA …

FEN1 endonuclease as a therapeutic target for human cancers with defects in homologous recombination

E Guo, Y Ishii, J Mueller, A Srivatsan… - Proceedings of the …, 2020 - National Acad Sciences
Synthetic lethality strategies for cancer therapy exploit cancer-specific genetic defects to
identify targets that are uniquely essential to the survival of tumor cells. Here we show …

Incidence, origin, and predictive model for the detection and clinical management of segmental aneuploidies in human embryos

L Girardi, M Serdarogullari, C Patassini, M Poli… - The American Journal of …, 2020 - cell.com
Despite next-generation sequencing, which now allows for the accurate detection of
segmental aneuploidies from in vitro fertilization embryo biopsies, the origin and …

Dynamic processing of displacement loops during recombinational DNA repair

A Piazza, SS Shah, WD Wright, SK Gore, R Koszul… - Molecular cell, 2019 - cell.com
Displacement loops (D-loops) are pivotal intermediates of homologous recombination (HR),
a universal DNA double strand break (DSB) repair pathway. We developed a versatile assay …

C-NHEJ without indels is robust and requires synergistic function of distinct XLF domains

R Bhargava, M Sandhu, S Muk, G Lee… - Nature …, 2018 - nature.com
To investigate the fidelity of canonical non-homologous end joining (C-NHEJ), we
developed an assay to detect EJ between distal ends of two Cas9-induced chromosomal …

[HTML][HTML] Bacteria-to-human protein networks reveal origins of endogenous DNA damage

J Xia, LY Chiu, RB Nehring, MAB Núñez, Q Mei… - Cell, 2019 - cell.com
DNA damage provokes mutations and cancer and results from external carcinogens or
endogenous cellular processes. However, the intrinsic instigators of endogenous DNA …

Monogenic diseases of DNA repair

G Keijzers, D Bakula… - New England Journal of …, 2017 - Mass Medical Soc
Maintenance of genomic integrity involves cellular processes tailored to specific types of
DNA damage. Monogenic disorders in DNA-repair pathways lead to a spectrum of clinical …

The true incidence of chromosomal mosaicism after preimplantation genetic testing is much lower than that indicated by trophectoderm biopsy

L Wu, L Jin, W Chen, JM Liu, J Hu, Q Yu… - Human …, 2021 - academic.oup.com
STUDY QUESTION What is the true incidence of chromosomal mosaicism in embryos
analyzed by preimplantation genetic testing (PGT) SUMMARY ANSWER The true incidence …

Pathways and Mechanisms that Prevent Genome Instability in Saccharomyces cerevisiae

CD Putnam, RD Kolodner - Genetics, 2017 - academic.oup.com
Genome rearrangements result in mutations that underlie many human diseases, and
ongoing genome instability likely contributes to the development of many cancers. The tools …