Genome Loops: Key Protein Discovery
- Cohesin, a ring-shaped protein complex, plays a vital role in shaping DNA and influencing gene expression.
- A new study featured in Nucleic Acids Research offers insights into how teh cohesin complex interacts with chromatin, potentially altering gene expression and contributing to cohesinopathies.
- Eva Estébanez-Perpiñá,a professor at UB,noted that the protein responsible for DNA looping comprises four subunits.
Groundbreaking research unveils teh critical role of the cohesin protein in shaping DNA and influencing gene expression, a discovery with wide-ranging implications. This study explores how cohesin interacts with chromatin, potentially altering gene expression linked to conditions like Cornelia de lange syndrome — the chief takeaway of this important news. Scientists from the University of Barcelona, the National Institutes of Health, and the University of Liege have illuminated the crucial interaction between cohesin and the glucocorticoid receptor (GR), offering fresh insights into the mechanisms behind cohesinopathies. By understanding how these molecular complexes function, we move closer to unraveling the complexities of these genetic conditions. for thorough coverage of this and other vital research, visit news Directory 3. Discover what’s next in the ongoing inquiry into the molecular mechanisms of diseases.
Cohesin Protein Shapes DNA, Impacts Gene Expression
Updated June 6, 2025
Cohesin, a ring-shaped protein complex, plays a vital role in shaping DNA and influencing gene expression. It moves along DNA, creating loops that define genome architecture.Mutations in cohesin genes can lead to rare conditions like Cornelia de Lange syndrome, affecting multiple organs, according to research.
A new study featured in Nucleic Acids Research offers insights into how teh cohesin complex interacts with chromatin, potentially altering gene expression and contributing to cohesinopathies. The research involved teams from the University of Barcelona (UB), the National Institutes of Health (NIH), and the University of Liege.
Eva Estébanez-Perpiñá,a professor at UB,noted that the protein responsible for DNA looping comprises four subunits. Researchers have identified 25 proteins that regulate these subunits and their function. Human cells contain two distinct cohesin isoforms,STAG-1 and STAG-2,differing in their SMC1,SMC3,and SCC1/RAD21 subunit composition.
Prior studies showed that the NIPBL protein, along with MAU2, enables cohesin to bind to gene enhancers. The new research reveals how NIPBL interacts with both MAU2 and the glucocorticoid receptor (GR), a key transcription factor. Alba Jiménez-panizo and Andrea Alegre-Martí, researchers at IBUB, explained that this NIPBL-MAU2-GR complex modulates transcription by facilitating GR interaction with NIPBL and MAU2, altering chromatin structure and gene expression.
“This NIPBL-MAU2-GR ternary complex modulates the transcription, as it facilitates the interaction of the glucocorticoid receptor (GR) with NIPBL and MAU2, which is the cohesion-loading factor. When the GR interacts with these two proteins, it alters the structure of chromatin and affects the process of gene expression,”
Alba Jiménez-Panizo and Andrea Alegre-Martí, IBUB
The team employed advanced microscopic techniques to visualize molecular complexes binding to chromatin in real-time, complemented by biochemical and biophysical analyses.
The study may improve understanding of Cornelia de Lange syndrome, caused by mutations in genes like Nipbll, SMC1A, HDAC8, Rad21, and SMC3. These mutations disrupt cohesin subunits and regulatory proteins, affecting chromosome organization. Researchers emphasize that understanding how these complexes fail to form correctly is crucial for understanding the disease.
What’s next
Researchers plan to investigate whether other nuclear receptors interact with NIPBL similarly. They will continue exploring the functional status of GR and the molecular biology of the complexes it forms, as well as studying molecular mechanisms underlying conditions like asthma and other autoimmune diseases.