UNIVERSITY OF Münster

Member Details

Prof Frank Tüttelmann, MD
Director

Institute of Reproductive Genetics
University of Münster
Vesaliusweg 12-14
48149 Münster
Germany

Telephone: +49 (0) 251-83-55411
Fax: +49 (0) 251-83-55393
Email: frank.tuettelmann@ukmuenster.de

Research URL: http://www.reprogenetik.de
Clinical Research Unit: http://www.male-germ-cells.de

Team Members

UNIVERSITY OF MÜNSTER

  • Corinna Friedrich – Senior postdoctoral fellow
  • Margot Wyrwoll – Clinician scientist
  • Jana Emich – PhD student
  • Nadja Rotte – PhD student
  • Marius Wöste – Bioinformatician
  • Henrike Krenz – Bioinformatician
  • Christina Burhöi – Research technician
  • Cristin Beumer – Research administration

Working Group

Improvement of and setting standards for clinical phenotyping, building structures to collect well-phenotyped patient groups, e.g. based on testicular histology.

Member Description

Prof. Frank Tüttelmann’s reproductive genetics institute aims to identify novel genetic causes for male infertility and deepen the understanding of male germ cells. The multidisciplinary team includes clinician scientists, biomedical researchers, graduate students of several disciplines, and bioinformaticians.
The group focusses on the genetic causes of severe spermatogenic failure, mostly severe oligo- and azoospermia, and some specific defects of sperm function such as CatSper deficiency. Since 2017, Frank is the coordinator of the DFG-funded Clinical Research Unit (CRU) 326 – Male Germ Cells: from Genes to Function. The main goal of the CRU is to significantly reduce the current number of unexplained male infertility cases by assigning more causal genetic diagnoses and, in parallel, improving phenotyping of these patients. For the clinical characterisation, recruitment of patients, and many research questions, the reproductive genetics group closely collaborates with the local Centre of Reproductive Medicine and Andrology (CeRA), most importantly Profs. Jörg Gromoll, Timo Strünker, Sabine Kliesch, and Stefan Schlatt.
As a result of the Male Reproductive Genomics (MERGE) study comprising exome data of more than 1000 infertile men, the group described a number of relevant genes such as TEX11, DMRT1, STAG3, M1AP, SYCP2 and specified associated phenotypes. To facilitate efficient data access and interpretation, the Male Fertility Gene Atlas (MFGA) – a public online platform for OMICs data on male infertility – has been developed by a multidisciplinary team of physicians, biologists and computer scientists.

Publications

Schilit SLP, Menon S, Friedrich C, et al (2020) SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. Am J Hum Genet 106:41–57.

Krenz H, Gromoll J, Darde T, et al (2020) The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICS data in the context of male infertility. Hum Reprod 35:1983–1990.

Wyrwoll MJ, Temel ŞG, Nagirnaja L, et al (2020) Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. Am J Hum Genet 107:342–351.

van der Bijl N, Röpke A, Biswas U, et al (2019) Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest. Hum Reprod.

Araujo TF, Friedrich C, Grangeiro CHP, et al (2020) Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. Andrology 8:434–441.

Tüttelmann F, Ruckert C, Röpke A (2018) Disorders of spermatogenesis. Medizinische Genet 30:12–20.

Borgmann J, Tüttelmann F, Dworniczak B, et al (2016) The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men. Hum Mol Genet 25:4898-4910.

Yatsenko AN, Georgiadis AP, Röpke A, et al (2015) X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men. N Engl J Med 372:2097–2107.

Tüttelmann F, Simoni M, Kliesch S, et al (2011) Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome. PLoS One 6:e19426.

Funding


Head of Clinical Research Unit (CRU326) ‘Male Germ Cells: from Genes to Function’ (German Research Foundation, DFG, 2017-2023) including two personal grants ‘Genomics of severe spermatogenic failure’ and ‘Bioinformatic pipelines and integrated analyses’.

DAAD PPP with Monash, Australia (2020-2021)