Master regulator of retinal vascularization identified

Collin, Rob

A research team led by Rob Collin (photo up) and Frans Cremers at the Department of Human Genetics reported on the identification of a transcription factor, ZNF408, which is mutated in a large Dutch family with a dominantly inherited eye defect.

Persons with this genetic defect show mild to severe visual impairments depending on the nature of secondary effects such as retinal detachment due to poorly developed retinal vessels. Further studies in the zebrafish model system showed that knockdown of the zebrafish znf408 protein resulted in severe defects in the embryonic vasculature of the eye and trunk, indicating a crucial role for this protein in blood vessel formation.

These results are now published online in the renowned journal Proceedings of the National Academy of Sciences (

Cremers, Frans

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