Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

CRISPR-Cas13 technology portfolio and alliance with other genetic tools

S Wu, P Tian, T Tan - Biotechnology Advances, 2022 - Elsevier
The exploitation of CRISPR-Cas systems especially CRISPR-Cas9 has led to radical
advances in genome editing, gene activation, gene repression, protein imaging, and …

Structural basis of MALAT1 RNA maturation and mascRNA biogenesis

I Skeparnias, C Bou-Nader, DG Anastasakis… - Nature Structural & …, 2024 - nature.com
The metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) long noncoding
RNA (lncRNA) has key roles in regulating transcription, splicing, tumorigenesis, etc. Its …

ARS2 instructs early transcription termination-coupled RNA decay by recruiting ZC3H4 to nascent transcripts

JO Rouvière, A Salerno-Kochan, S Lykke-Andersen… - Molecular Cell, 2023 - cell.com
The RNA-binding ARS2 protein is centrally involved in both early RNA polymerase II
(RNAPII) transcription termination and transcript decay. Despite its essential nature, the …

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita

H Tummala, AJ Walne, M Badat, M Patel… - EMBO Molecular …, 2024 - embopress.org
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by
genetic mutations that principally affect telomere biology. Approximately 35% of cases …

A functional connection between the Microprocessor and a variant NEXT complex

K Imamura, W Garland, M Schmid, L Jakobsen, K Sato… - Molecular Cell, 2024 - cell.com
In mammalian cells, primary miRNAs are cleaved at their hairpin structures by the
Microprocessor complex, whose core is composed of DROSHA and DGCR8. Here, we show …

SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses

R Tomecki, K Drazkowska… - Wiley Interdisciplinary …, 2023 - Wiley Online Library
RNA stability and quality control are integral parts of gene expression regulation. A key
factor shaping eukaryotic transcriptomes, mainly via 3′–5′ exoribonucleolytic trimming or …

RNA 3′ end tailing safeguards cells against products of pervasive transcription termination

G Wu, JO Rouvière, M Schmid… - Nature …, 2024 - nature.com
Premature transcription termination yields a wealth of unadenylated (pA−) RNA. Although
this can be targeted for degradation by the Nuclear EXosome Targeting (NEXT) complex …

Structural basis for competitive binding of productive and degradative co-transcriptional effectors to the nuclear cap-binding complex

E Dubiez, E Pellegrini, MF Brask, W Garland… - Cell Reports, 2024 - cell.com
The nuclear cap-binding complex (CBC) coordinates co-transcriptional maturation,
transport, or degradation of nascent RNA polymerase II (Pol II) transcripts. CBC with its …

[HTML][HTML] The role of hepatocyte-derived extracellular vesicles in liver and extrahepatic diseases

S Li, F Cheng, Z Zhang, R Xu, H Shi, Y Yan - Biomedicine & …, 2024 - Elsevier
Extracellular vesicles (EVs) are vesicle-like bodies with a double membrane structure that
are released from the cell membrane or secreted by cells into the extracellular environment …