DNA single-strand break repair and human genetic disease

KW Caldecott - Trends in cell biology, 2022 - cell.com
DNA single-strand breaks (SSBs) are amongst the commonest DNA lesions arising in cells,
with many tens of thousands induced in each cell each day. SSBs arise not only from …

Inflammation and DNA damage: cause, effect or both

A Pezone, F Olivieri, MV Napoli, A Procopio… - Nature Reviews …, 2023 - nature.com
Inflammation is a biological response involving immune cells, blood vessels and mediators
induced by endogenous and exogenous stimuli, such as pathogens, damaged cells or …

Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration

V Dileep, CA Boix, H Mathys, A Marco, GM Welch… - Cell, 2023 - cell.com
Persistent DNA double-strand breaks (DSBs) in neurons are an early pathological hallmark
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …

Increased post-mitotic senescence in aged human neurons is a pathological feature of Alzheimer's disease

JR Herdy, L Traxler, RK Agarwal, L Karbacher… - Cell Stem Cell, 2022 - cell.com
The concept of senescence as a phenomenon limited to proliferating cells has been
challenged by growing evidence of senescence-like features in terminally differentiated …

A NPAS4–NuA4 complex couples synaptic activity to DNA repair

EA Pollina, DT Gilliam, AT Landau, C Lin, N Pajarillo… - Nature, 2023 - nature.com
Neuronal activity is crucial for adaptive circuit remodelling but poses an inherent risk to the
stability of the genome across the long lifespan of postmitotic neurons,,,–. Whether neurons …

Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements

LJ Luquette, MB Miller, Z Zhou, CL Bohrson, Y Zhao… - Nature …, 2022 - nature.com
Accurate somatic mutation detection from single-cell DNA sequencing is challenging due to
amplification-related artifacts. To reduce this artifact burden, an improved amplification …

Neuronal enhancers are hotspots for DNA single-strand break repair

W Wu, SE Hill, WJ Nathan, J Paiano, E Callen, D Wang… - Nature, 2021 - nature.com
Defects in DNA repair frequently lead to neurodevelopmental and neurodegenerative
diseases, underscoring the particular importance of DNA repair in long-lived post-mitotic …

[HTML][HTML] Map** the genetic landscape of DNA double-strand break repair

JA Hussmann, J Ling, P Ravisankar, J Yan… - Cell, 2021 - cell.com
Cells repair DNA double-strand breaks (DSBs) through a complex set of pathways critical for
maintaining genomic integrity. To systematically map these pathways, we developed a high …

Active DNA demethylation promotes cell fate specification and the DNA damage response

D Wang, W Wu, E Callen, R Pavani, N Zolnerowich… - Science, 2022 - science.org
Neurons harbor high levels of single-strand DNA breaks (SSBs) that are targeted to
neuronal enhancers, but the source of this endogenous damage remains unclear. Using two …

Genetics and neurobiology of eating disorders

CM Bulik, JRI Coleman, JA Hardaway… - Nature …, 2022 - nature.com
Eating disorders (anorexia nervosa, bulimia nervosa and binge-eating disorder) are a
heterogeneous class of complex illnesses marked by weight and appetite dysregulation …