The multifaceted roles of cohesin in cancer

M Di Nardo, MM Pallotta, A Musio - Journal of Experimental & Clinical …, 2022 - Springer
The cohesin complex controls faithful chromosome segregation by pairing sister chromatids
after DNA replication until mitosis. In addition, it is crucial for hierarchal three-dimensional …

Disruption of regulatory domains and novel transcripts as disease‐causing mechanisms

L Allou, S Mundlos - Bioessays, 2023 - Wiley Online Library
Abstract Deletions, duplications, insertions, inversions, and translocations, collectively called
structural variations (SVs), affect more base pairs of the genome than any other sequence …

The rs1421085 variant within FTO promotes brown fat thermogenesis

Z Zhang, N Chen, N Yin, R Liu, Y He, D Li, M Tong… - Nature …, 2023 - nature.com
One lead genetic risk signal of obesity—the rs1421085 T> C variant within the FTO gene—is
reported to be functional in vitro but lacks evidence at an organism level. Here we …

Genetic Dissection of a Super Enhancer Controlling the Nppa-Nppb Cluster in the Heart

JCK Man, K van Duijvenboden, PHL Krijger… - Circulation …, 2021 - Am Heart Assoc
Rationale: ANP (atrial natriuretic peptide) and BNP (B-type natriuretic peptide), encoded by
the clustered genes Nppa and Nppb, are important prognostic, diagnostic, and therapeutic …

Structural variation at a disease mutation hotspot: Strategies to investigate gene regulation and the 3D genome

A Boyling, G Perez-Siles, ML Kennerson - Frontiers in Genetics, 2022 - frontiersin.org
A rare form of X-linked Charcot-Marie-Tooth neuropathy, CMTX3, is caused by an
interchromosomal insertion occurring at chromosome Xq27. 1. Interestingly, eight other …

Chromatin topology in development and disease

O Bompadre, G Andrey - Current opinion in genetics & development, 2019 - Elsevier
The discovery of domains of preferential interaction or Topologically Associating Domains
(TADs) has provided a framework to understand the relation between enhancers and …

Transcriptional enhancers: from prediction to functional assessment on a genome-wide scale

IC Tobias, LE Abatti, SD Moorthy, S Mullany, T Taylor… - …, 2021 - cdnsciencepub.com
Enhancers are cis-regulatory sequences located distally to target genes. These sequences
consolidate developmental and environmental cues to coordinate gene expression in a …

Gene regulatory landscape of the sonic hedgehog locus in embryonic development

T Amano - Development, Growth & Differentiation, 2020 - Wiley Online Library
The organs of vertebrate species display a wide variety of morphology. A remaining
challenge in evolutionary developmental biology is to elucidate how vertebrate lineages …

Cis‐regulatory control of mammalian Trps1 gene expression

M Abrar, S Ali, I Hussain, H Khatoon… - … Zoology Part B …, 2024 - Wiley Online Library
TRPS1 serves as the causative gene for tricho‐rhino phalangeal syndrome, known for its
craniofacial and skeletal abnormalities. The Trps1 gene encodes a protein that represses …

Progressing super-enhancer landscape during mammary differentiation controls tissue-specific gene regulation

HK Lee, M Willi, HY Shin, C Liu… - Nucleic acids …, 2018 - academic.oup.com
The mammary luminal lineage relies on the common cytokine-sensing transcription factor
STAT5 to establish super-enhancers during pregnancy and initiate a genetic program that …