1st CRU326 pilot project started!

Dr. rer. nat. Matthias Vockel, Institute of Human Genetics

On April 11th, the pilot project of Dr. rer. nat. Matthias Vockel was accepted by the CRU326 Management Board. 

The project will focus on ligand discovery for a testis-specific adhesion receptor in X-linked CBAVD. Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility. CFTR mutations are known to be the cause in about 80% of men with CBAVD. Recently, mutations in the ADGRG2 gene were described in CBAVD patients who were negative for CFTR mutations. ADGRG2 (adhesion G protein-coupled receptor G2) is an X-linked adhesion receptor highly expressed in efferent ducts. However, ADGRG2 remains an orphan receptor, i. e. the nature of endogenous ligand(s) are still unknown. Identification of possible adhesion ligands of the large extracellular domain of ADGRG2 will provide important insights into its receptor function and impact on pathology. Taking an unbiased approach, receptor-ligand interactions will be explored by purification of ADGRG2 complexes from epididymal cells and subsequent mass spectrometry.

Matthias Vockel is a research scientist at the Institute of Human Genetics (UKM) in the group of Frank Tüttelmann. He has already implemented ADGRG2 testing into clinical routine diagnostic for CFTR-negative CBAVD patients.

Please find the call for new pilot pojects here. Next deadline: June 10th 2018.