Diana O. Rios Szwed
A5086998317- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
- Transplantation: Methods and Outcomes
- Peptidase Inhibition and Analysis
University of Dundee
2023
Institute of Genetics and Cancer
2022
University of Edinburgh
2022
The mutational landscape is shaped by many processes. Genic regions are vulnerable to mutation but preferentially protected transcription-coupled repair
FAM111A is a replisome-associated protein and dominant mutations within its trypsin-like peptidase domain are linked to severe human developmental syndrome, the Kenny–Caffey syndrome. However, functions remain unclear. Here, we show that facilitates efficient activation of DNA replication origins. Upon hydroxyurea treatment, FAM111A-depleted cells exhibit reduced single-stranded formation better survival rate. Unrestrained expression WT patient mutants causes accumulation damage cell death,...