New Publication by Cluster member Prof. Regina Betz

March 14, 2017

Microscopic image of zebrafish larvae. (c) AG Betz / University of Bonn

Microscopic image of zebrafish larvae: The distribution of the pigment cells (black) can be seen easily in the animals, which are only the size of an eyelash. If the function of the PSENEN gene (right) was disrupted, these collected in unusual places to form clearly visible patches – similar to people with Dowling-Degos disease. (c) AG Betz / University of Bonn


Cluster member Prof. Regina Betz from the Institute of Human Genetics published her recent findings in the Journal of Clinical Investigations.

Dowling-Degos disease is a hereditary pigmentation disorder that generally progresses harmlessly. However, some of those affected also develop severe skin inflammation. An international team of researchers under the leadership of the University of Bonn has now found a cause for this link. Their knowledge comes thanks to an animal that is known among aquarium owners for its characteristic pigmentation: the zebrafish. 

Please find the english press release here.

Publication: Damian Ralser et al.: Mutations in gamma-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa; Journal of Clinical Investigation; DOI: 10.1172/JCI90667


Prof. Regina Betz
Institute of Human Genetics
University of Bonn
Tel. +49 (0)228/28751023
E-mail: regina.betz(at)