NIPBL and cohesin: new take on a classic tale

D Alonso-Gil, A Losada - Trends in Cell Biology, 2023 - cell.com
Cohesin folds the genome in dynamic chromatin loops and holds the sister chromatids
together. NIPBL Scc2 is currently considered the cohesin loader, a role that may need …

[HTML][HTML] Cohesin regulation and roles in chromosome structure and function

NL Rittenhouse, JM Dowen - Current Opinion in Genetics & Development, 2024 - Elsevier
Chromosome structure regulates DNA-templated processes such as transcription of genes.
Dynamic changes to chromosome structure occur during development and in disease …

Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2

D Alonso-Gil, A Cuadrado, D Giménez-Llorente… - Nature …, 2023 - nature.com
Cohesin organizes the genome through the formation of chromatin loops. NIPBL activates
cohesin's ATPase and is essential for loop extrusion, but its requirement for cohesin loading …

Context-dependent perturbations in chromatin folding and the transcriptome by cohesin and related factors

R Nakato, T Sakata, J Wang, LAE Nagai… - Nature …, 2023 - nature.com
Cohesin regulates gene expression through context-specific chromatin folding mechanisms
such as enhancer–promoter looping and topologically associating domain (TAD) formation …

Cooperative in situ assembly of G-quadruplex DNAzyme nanowires for one-step sensing of CpG methylation in human genomes

LJ Wang, Q Han, JG Qiu, C Zhang - Nano Letters, 2021 - ACS Publications
CpG methylation is one the most predominant epigenetic modification that has been
recognized as a molecular-level biomarker for various human diseases. Taking advantage …

WAPL functions as a rheostat of Protocadherin isoform diversity that controls neural wiring

L Kiefer, A Chiosso, J Langen, A Buckley, S Gaudin… - Science, 2023 - science.org
Neural type–specific expression of clustered Protocadherin (Pcdh) proteins is essential for
the establishment of connectivity patterns during brain development. In mammals …

Co-essentiality analysis identifies PRR12 as a cohesin interacting protein and contributor to genomic integrity

AL Nguyen, EM Smith, IM Cheeseman - Developmental Cell, 2024 - cell.com
The cohesin complex is critical for genome organization and regulation, relying on
specialized co-factors to mediate its diverse functional activities. Here, by analyzing patterns …

Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl+/− embryos

CM Kean, CJ Tracy, A Mitra, B Rahat… - Science …, 2022 - science.org
Cohesin rings interact with DNA and modulate the expression of thousands of genes. NIPBL
loads cohesin onto chromosomes, and WAPL takes it off. Haploinsufficiency for NIPBL …

Advances in molecular characterization of myeloid proliferations associated with Down syndrome

J Li, ML Kalev-Zylinska - Frontiers in genetics, 2022 - frontiersin.org
Myeloid leukemia associated with Down syndrome (ML-DS) has a unique molecular
landscape that differs from other subtypes of acute myeloid leukemia. ML-DS is often …

[HTML][HTML] Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells

M Di Nardo, ID Krantz, A Musio - Cells, 2024 - mdpi.com
Cornelia de Lange syndrome (CdLS) is a rare, dominantly inherited multisystem
developmental disorder. Pathogenic variants in genes encoding the structural subunits and …