Press relaease Hubrecht Institute

Novel histone mutations cause developmental syndrome

20 September 2017

Three children born with a congenital developmental syndrome were found to be carriers for mutations on a remarkable gene, namely a gene coding for a histone protein. Histones can be compared to spools around which the DNA fiber is wrapped to be stored in the cellular nucleus.

Numerous mutations have already been linked to developmental syndromes. This is however the first time that a mutation in histone gene is linked to a developmental syndrome.

histonenHistones, Hubrecht Institute

The results from this joint study by Federico Tessadori and Jeroen Bakkers (Hubrecht Institute - KNAW) in collaboration with the group of Gijs van Haaften (UMC Utrecht) and the Great Ormond Hospital (London, UK) is published in Nature Genetics on 18 September 2017.

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Hubrecht Institute

About the Hubrecht Institute

The Hubrecht Institute is a research institute of the Royal Netherlands Academy of Arts and Sciences. Presently there are 20 research groups with a total of about 200 employees. In addition to a highly interactive and international scientific environment, excellent research facilities are available for imaging and functional genomics. Moreover, several model organisms are present, including C. elegans, zebrafish and mice. The institute is situated in Utrecht at the university centre De Uithof. The Hubrecht Institute is affiliated with the University Medical Center Utrecht and has close connections with Utrecht University, e.g. in the Graduate School Cancer Genomics and Development Biology.

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