Walking a tightrope: the complex balancing act of R-loops in genome stability

JR Brickner, JL Garzon, KA Cimprich - Molecular cell, 2022 - cell.com
Although transcription is an essential cellular process, it is paradoxically also a well-
recognized cause of genomic instability. R-loops, non-B DNA structures formed when …

The UHRF protein family in epigenetics, development, and carcinogenesis

M Unoki, H Sasaki - Proceedings of the Japan Academy, Series B, 2022 - jstage.jst.go.jp
The UHRF protein family consists of multidomain regulatory proteins that sense modification
status of DNA and/or proteins and catalyze the ubiquitylation of target proteins. Through their …

DDM1-mediated R-loop resolution and H2A. Z exclusion facilitates heterochromatin formation in Arabidopsis

J Zhou, X Lei, S Shafiq, W Zhang, Q Li, K Li, J Zhu… - Science …, 2023 - science.org
Programmed constitutive heterochromatin silencing is essential for eukaryotic genome
regulation, yet the initial step of this process is ambiguous. A large proportion of R-loops …

CDCA7 is an evolutionarily conserved hemimethylated DNA sensor in eukaryotes

IE Wassing, A Nishiyama, R Shikimachi, Q Jia… - Science …, 2024 - science.org
Mutations of the SNF2 family ATPase HELLS and its activator CDCA7 cause
immunodeficiency, centromeric instability, and facial anomalies syndrome, characterized by …

Germinal center output is sustained by HELLS-dependent DNA-methylation-maintenance in B cells

C Cousu, E Mulot, A De Smet, S Formichetti… - Nature …, 2023 - nature.com
Abstract HELLS/LSH (Helicase, Lymphoid Specific) is a SNF2-like chromatin remodelling
protein involved in DNA methylation. Its loss-of-function in humans causes humoral …

Regulation and function of R-loops at repetitive elements

A Gambelli, A Ferrando, C Boncristiani, S Schoeftner - Biochimie, 2023 - Elsevier
R-loops are atypical, three-stranded nucleic acid structures that contain a stretch of RNA:
DNA hybrids and an unpaired, single stranded DNA loop. R-loops are physiological relevant …

Regulatory mechanism and biological function of UHRF1–DNMT1-mediated DNA methylation

Y Ren - Functional & Integrative Genomics, 2022 - Springer
The maintenance of epigenetic characteristics is essential for the normal growth and
development of organisms. The maintenance of DNA methylation is an important way to …

Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with …

M Unoki, G Velasco, S Kori, K Arita… - Human molecular …, 2023 - academic.oup.com
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is in most
cases caused by mutations in either DNA methyltransferase (DNMT) 3B, zinc finger and BTB …

Satellite DNAs in health and disease

Đ Ugarković, A Sermek, S Ljubić, I Feliciello - Genes, 2022 - mdpi.com
Tandemly repeated satellite DNAs are major components of centromeres and
pericentromeric heterochromatin which are crucial chromosomal elements responsible for …

HELLS regulates transcription in T-cell lymphomas by reducing unscheduled R-loops and by facilitating RNAPII progression

A Tameni, S Mallia, V Manicardi, B Donati… - Nucleic Acids …, 2024 - academic.oup.com
Chromatin modifiers are emerging as major determinants of many types of cancers,
including Anaplastic Large Cell Lymphomas (ALCL), a family of highly heterogeneous T-cell …