Mechanisms of chromosome folding and nuclear organization: their interplay and open questions

L Mirny, J Dekker - Cold Spring Harbor perspectives in …, 2022 - cshperspectives.cshlp.org
Microscopy and genomic approaches provide detailed descriptions of the three-dimensional
folding of chromosomes and nuclear organization. The fundamental question is how activity …

The multifaceted role of mitochondria in autism spectrum disorder

I Khaliulin, W Hamoudi, H Amal - Molecular psychiatry, 2024 - nature.com
Normal brain functioning relies on high aerobic energy production provided by
mitochondria. Failure to supply a sufficient amount of energy, seen in different brain …

Cohesin-dependence of neuronal gene expression relates to chromatin loop length

L Calderon, FD Weiss, JA Beagan, MS Oliveira… - Elife, 2022 - elifesciences.org
Cohesin and CTCF are major drivers of 3D genome organization, but their role in neurons is
still emerging. Here, we show a prominent role for cohesin in the expression of genes that …

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 …

Cohesin regulates alternative splicing

AK Singh, Q Chen, C Nguyen, D Meerzaman… - Science …, 2023 - science.org
Cohesin, a trimeric complex that establishes sister chromatid cohesion, has additional roles
in chromatin organization and transcription. We report that among those roles is the …

Enhancer–promoter specificity in gene transcription: molecular mechanisms and disease associations

MJ Friedman, T Wagner, H Lee… - … & Molecular Medicine, 2024 - nature.com
Although often located at a distance from their target gene promoters, enhancers are the
primary genomic determinants of temporal and spatial transcriptional specificity in …

Full circle: a brief history of cohesin and the regulation of gene expression

JA Horsfield - The FEBS journal, 2023 - Wiley Online Library
The cohesin complex has a range of crucial functions in the cell. Cohesin is essential for
mediating chromatid cohesion during mitosis, for repair of double‐strand DNA breaks, and …

Cornelia de Lange syndrome: from a disease to a broader spectrum

A Selicorni, M Mariani, A Lettieri, V Massa - Genes, 2021 - mdpi.com
Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of
knowledge in the field of rare genetic disorders. Originally described as a unique pattern of …

Cohesin forms fountains at active enhancers in C. elegans

BN Isiaka, JI Semple, A Haemmerli, S Thapliyal… - BioRxiv, 2023 - biorxiv.org
Transcriptional enhancers must find their target genes both efficiently and specifically.
Chromatin conformation capture revealed the critical function of three-dimensional …

Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders

RA MacPherson, V Shankar, RRH Anholt… - Genetics, 2023 - academic.oup.com
Switch/sucrose nonfermentable (SWI/SNF)-related intellectual disability disorders
(SSRIDDs) and Cornelia de Lange syndrome are rare syndromic neurodevelopmental …