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(Professor for Molecular Genetics of Sensory Systems)
Associate head: Dr. rer. nat. Susanne Kohl
Molecular Genetics Laboratory & Molecular Genetics of Sensory Sytems
Centre for Ophthalmology
Institute for Ophthalmic Research
E-mail: wissinger [at] uni-tuebingen [dot] de
Tel.: +49 7071 29 85032
Fax: +49 7071 29 5725
The Molecular Genetics Laboratory has its research focus on hereditary ocular disorders with a particular focus on retinal dystrophies, optic neuropathies and glaucoma. We have been involved in the first description of several "disease genes" (CNGA3, CNGB3, GNAT2, PDE6C, RBP4, NYX, OPA1) as well as numerous follow-up mutation screenings in a variety of disease genes and clinical subtypes. Central for these achievements is a large biobank of DNA and RNA samples which currently comprises more than 10'000 DNA samples of patients and family members, and thus represents the largest sample collection for ocular disorders in Germany.
In extending the knowledge and data from the genetic studies we also investigate the normal biological function of disease genes and the functional consequence of mutations at the molecular and cellular level. This includes among others CNGA3 and CNGB3, the two subunits of the cone cGMP-gated channel mutated in Achromatopsia, and OPA1, a nuclear encoded mitochondrial protein associated with autosomal dominantly inherited forms of Optic Atrophy Type Kjer (ADOA). Moreover we are also generating and studying homologous animal models at the functional, histological and molecular level in order to characterize and elucidate the disease pathology and the underlying degenerative processes.
Another recent field of research is dedicated to the qualitative and quantitative analyses of retinal gene transcripts and the characterization of retinal gene promotors which defines a primary level of gene regulation and genetic variability.
Kohl, S., Baumann, B., Broghammer, M., JÃ¤gle, H., Sieving, P., Kellner, U., Spegal, R., Anastasi, M., Zrenner, E., Sharpe, L.T., Wissinger, B. (2000)
Mutations in the CNGB3 gene encoding the Î²-subunit of the cone photoreceptor cGMP gated channel are responsible for Achromatopsia (ACHM3) linked to chromosome 8q21.
Hum Mol Genet 9: 2107-2116.
Alexander, C., Votruba, M., Pesch, U., Thiselton, D., Mayer, S., Moore, T., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S., Wissinger, B. (2000)
OPA1, a gene encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Nat Genet 26: 211-215.
TrÃ¤nkner, D., JÃ¤gle, H, Kohl, S., Apfelstedt-Sylla, E., Sharpe, L.T., Kaupp, U.B., Zrenner, E., Seifert, R., Wissinger, B. (2004)
Molecular basis of an inherited form of incomplete achromatopsia.
J Neurosci 24: 138-147.
Weisschuh, N., Dressler, P., Schuettauf. F., Wolf, C., Wissinger, B., Gramer, E. (2006)
Novel Mutations of FOXC1 and PITX2 in Patients with Axenfeld-Rieger Malformation.
Invest Ophthalmol Vis Sci 47: 3846-3852.
Alavi, M., Bette, S., Schimpf, S., SchÃ¼ttauf, F., Schraermeyer, U., Wehrl, H.F., RÃ¼ttiger, L., Beck, S.C., Tonagel, F., Pichler, B.J., Knipper, M., Peters, T., Laufs, J., Wissinger, B. (2007)
A splice site mutation in the murine OPA1 features pathology of autosomal dominant optic atrophy.
Brain 130: 1029-1042.