[HTML][HTML] R loops: from physiological to pathological roles

T García-Muse, A Aguilera - Cell, 2019 - cell.com
DNA-RNA hybrids play a physiological role in cellular processes, but often, they represent
non-scheduled co-transcriptional structures with a negative impact on transcription …

The wiskott-aldrich syndrome

HD Ochs, AJ Thrasher - Journal of Allergy and Clinical Immunology, 2006 - Elsevier
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder with variable clinical
phenotypes that correlate with the type of mutations in the WAS protein (WASP) gene …

Human proteins that interact with RNA/DNA hybrids

IX Wang, C Grunseich, J Fox, J Burdick, Z Zhu… - Genome …, 2018 - genome.cshlp.org
RNA/DNA hybrids form when RNA hybridizes with its template DNA generating a three-
stranded structure known as the R-loop. Knowledge of how they form and resolve, as well as …

[HTML][HTML] Non-B DNA structures as a booster of genome instability

RC Duardo, F Guerra, S Pepe, G Capranico - Biochimie, 2023 - Elsevier
Non-canonical secondary structures (NCSs) are alternative nucleic acid structures that differ
from the canonical B-DNA conformation. NCSs often occur in repetitive DNA sequences and …

WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage

SS Han, KK Wen, ML García-Rubio, MS Wold… - Nature …, 2022 - nature.com
Perturbation in the replication-stress response (RSR) and DNA-damage response (DDR)
causes genomic instability. Genomic instability occurs in Wiskott-Aldrich syndrome (WAS), a …

High-throughput techniques enable advances in the roles of DNA and RNA secondary structures in transcriptional and post-transcriptional gene regulation

I Georgakopoulos-Soares, CSY Chan, N Ahituv… - Genome biology, 2022 - Springer
The most stable structure of DNA is the canonical right-handed double helix termed B DNA.
However, certain environments and sequence motifs favor alternative conformations, termed …

Actin nucleators safeguard replication forks by limiting nascent strand degradation

J Nieminuszczy, PR Martin, R Broderick… - Nucleic acids …, 2023 - academic.oup.com
Accurate genome replication is essential for all life and a key mechanism of disease
prevention, underpinned by the ability of cells to respond to replicative stress (RS) and …

Understanding immunoactinopathies: A decade of research on WAS gene defects

RC Vieira, LG Pinho… - Pediatric Allergy and …, 2023 - Wiley Online Library
Immunoactinopathies caused by mutations in actin‐related proteins are a growing group of
inborn errors of immunity (IEI). Immunoactinopathies are caused by a dysregulated actin …

Reversion mosaicism in primary immunodeficiency diseases

H Miyazawa, T Wada - Frontiers in immunology, 2021 - frontiersin.org
Reversion mosaicism has been reported in an increasing number of genetic disorders
including primary immunodeficiency diseases. Several mechanisms can mediate somatic …

Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing

B Yuan, X Zhou, K Suzuki, G Ramos-Mandujano… - Nature …, 2022 - nature.com
The diverse functions of WASP, the deficiency of which causes Wiskott-Aldrich syndrome
(WAS), remain poorly defined. We generated three isogenic WAS models using patient …