Rahman syndrome is a rare genetic disorder characterized by neurodevelopmental defects and distinctive facial features, with skeletal or cardiac abnormalities in some patients.
A new study published in Nature Communications by an international team of scientists from IBS, IAB, IGBMC and research institutes in Bulgaria, Turkey and the United States reveals that the mutation responsible for the disease impairs the function of linker histone H1.4, a protein that helps compact DNA inside the cell nucleus.
The disruption in chromatin organization caused by the H1.4 mutation may perturb gene expression during development, offering new mechanistic insights into Rahman syndrome.
More broadly, the study highlights the central role of linker histones in regulating chromatin organization, pointing to new ways of studying chromatin-linked disease.
A Rahman Syndrome mutation in histone H1.4 disrupts chromatin compaction and phase separation. Boopathi R, Garcia-Saez I, Turunç S, Lone IN, Kumar A, Abu Alhaija AA, Hayes JJ, Bednar J, Diril MK, Iliev D, Gospodinov A, Le Roy A, Skoufias D, Angelov D, Hamiche A, Kale S, Dimitrov S, Petosa C. Nat Commun. 2026 May 22. doi : 10.1038/s41467-026-73046-8.
Contact : Carlo Petosa, IBS/Epigenetics and molecular pathways Group