IBG researchers and collaborators publish study on the rare disease Rahman syndrome in Nature Communications.
An international collaboration involving past and present IBG researchers has published a landmark study in Nature Communications, uncovering the molecular mechanisms of Rahman syndrome, a rare epigenetic disorder.
The research was conceived by former IBG PI Dr. Stefan Dimitrov, co-led by Dr. Seyit Kale, and involved several other IBG researchers across multiple teams, including co-first author and omics PhD student Serhan Turunç. The initiative also received key support from the Rareboost project.
Advanced orthogonal techniques including cryoEM, molecular dynamics, chromatin biochemistry, and advanced microscopy (FRET/FRAP) were used to reveal how a disease mutation in linker histone H1.4 (specifically its C-terminal domain) prevents DNA from compacting properly. This leaves chromatin aberrantly relaxed, providing crucial new insights into disease pathology and universal chromatin regulation.
You can access the full publication via the link below: