Prof. Dr. Frank Tüttelmann
Deputy Director Research & Teaching
Institute of Human Genetics
University of Münster
Tel. +49 (0) 251-83-55411
Fax +49 (0) 251-83-55393
Institute / Research (at the moment only in German): http://klinikum.uni-muenster.de/index.php?id=10200
Clinical Research Unit: http://www.male-germ-cells.de
Improvement of and setting standards for clinical phenotyping, building structures to collect well-phenotyped patient groups, e.g. based on testicular histology.
Prof. Tüttelmann and his group work on genetics of human reproduction with a strong focus on the male. In close collaboration with the Centre of Reproductive Medicine and Andrology (CeRA) and utilizing the two clinical databases he developed (Androbase© handling >30.000 infertile men, Gene.Sys©), he aims to significantly reduce the currently ~70% of unexplained male infertility by assigning a specific genetic diagnosis.
The group has evaluated several genes (e.g. NR5A1, DMRT1, RHOXF1/2), specified associated phenotypes, and recently described TEX11 in a collaborative study as the first common X-linked cause of meiotic arrest (Yatsenko et al., New England Journal of Medicine 2015). We also revealed associations between male infertility and aberrant DNA methylation and discovered significant epigenetic mosaicism in spermatozoa. Since identifying an increased CNV load (Tüttelmann et al., PLoS One 2011), genome-wide analyses (array-CGH, exome/genome and whole-genome bisulfite sequencing) are applied to corroborate putative as well as to identify novel candidate genes.
Prof. Tüttelmann has recently established and is head of the Clinical Research Unit (DFG CRU326) ‘Male Germ Cells: from Genes to Function’. In addition to identifying new genetic causes, this group aims at improving phenotyping by e.g. using novel marker panels, high frequency microscopy and miniaturized assays of spermatozoan ion channels.
Tüttelmann F, Ruckert C, Röpke A. Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of unchanged routine. Med Genet 30:12-20 (2018)
Borgmann J, Tüttelmann F, Dworniczak B, Röpke A, Song HW, Kliesch S, Wilkinson MF, Laurentino S, Gromoll J. The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men. Hum Mol Genet 25:4898-4910 (2016)
Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tüttelmann F. X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men. N Engl J Med 372:2097-107 (2015)
Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A. Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One 6:e19426 (2011)
Head of Clinical Research Unit (CRU326) ‘Male Germ Cells: from Genes to Function’ (German Research Foundation, DFG, 2017-2023) including two personal grants ‘Novel genetic causes for severe spermatogenic failure’ and ‘Coordination and integrated analysis of OMICs data’.