Genome Dynamics
Cis-regulatory landscape dynamics in development and disease
Dr Martin Franke
Researcher
Summary

Figure 1. a) Representative models of the 3D chromatin structure of the ptch2 regulatory landscape in wild-type (WT) and ctcf knockout zebrafish embryos at 48 hours post-fertilisation (hpf). b) Whole-mount in situ hybridization of ptch2 in wild-type and ctcf knockout zebrafish embryos at 48 hpf. (Franke et al., 2021, Nat. Commun.)
How enhancers and the 3D chromatin structure of our genome translate into function is crucial to understand human genetic diseases. Changes that affect the regulatory landscape of a gene can lead to gene misexpression, resulting in developmental defects or cancer (Franke et al., 2016, Nature; Franke et al., 2022, AJHG). Together with our collaboration partners, it is our aim to improve the diagnosis of patients with regulatory mutations. To do so, we apply chromosome conformation capture technologies in patient cells in order to trace changes in chromatin interactions and to identify candidate disease-causing genes and enhancers.
Lab members & collaborators
Associated Investigator
Dr. Martin Franke
Lab Manager
Dr. Sara María Ortega Campos (shared position with Dr. Christina Paliou)
Research Assistant
Almudena Neva Alejo
PhD Student
Paula Soto Carmona
Alumni
Dr. Marta Moreno Oñate (PhD Student, co-supervised by Dr. Juan J. Tena)
Leon Schmitz (Erasmus+ Intern)
Manuel Durán Acosta (Master Student, co-supervised by Dr. José María Santos Pereira)
Collaborators
Elisa de la Calle-Mustienes (CABD, Seville, Spain)
Dr. Juan Ramón Martínez-Morales (CABD, Seville, Spain)
Dr. Dario Lupiáñez (CABD, Seville, Spain)
Dr. Juan J. Tena (CABD, Seville, Spain)
Dr. Adrian F. Daly (University of Liège, Liège, Belgium)
Dr. Giampaolo Trivellin (Humanitas Research Hospital, Milan, Italy)
Dr. Irene Delgado and Dr. Miguel Torres (CNIC, Madrid, Spain)
Dr. Cristina González Aguilera (Cabimer, Seville, Spain)




