USC Stem Cell Study Reveals DNA Loops' Crucial Role in Gene Repression
Findings suggest that mutations in cohesin, a protein complex involved in 3D genome organization, may be linked to diseases caused by aberrant gene silencing.
- USC Stem Cell scientists have discovered a crucial role of DNA loops in gene repression, according to a study published in Nature Communications.
- The study focused on the repression of developmental genes by Polycomb Repressive Complexes 1 and 2 (PRC1 and PRC2), which form loops within the genome to maintain the genes in a silent state.
- The team identified a protein, PDS5A, that modifies these loops without affecting another gene-silencing mechanism, histone modifications.
- Disruption of PDS5A resulted in changes in the loop structures, leading to the inappropriate activation of developmental genes.
- The findings suggest that mutations in cohesin, of which PDS5A is a part, may be linked to diseases caused by aberrant gene silencing, potentially impacting the understanding and treatment of a range of human diseases, including developmental disorders and cancer.
ScienceDaily 
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