Allelic variation of the human endogenous retrovirus family HERV-K(HML-2) and its significance for the human genome and germ cell tumors

• Applicant: Professor Dr. Eckart Meese
• Subject Area: Human Genetics
• Term: from 2005 to 2009
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 18406406

The majority of the human genome consists of repetitive sequence, with 8% being derived from retroviral sequences that integrated into the genome millions of years ago. While most of that human endogenous retrovirus (HERV) content lost its functionality over time, the HERV-K(HML-2) family is exceptional in that proviruses of that family are expressed and encode functional retroviral proteins. HERV-K(HML-2) proteins have been implicated in germ cell tumor (GCT), the most common tumor among young men, either as clinical marker for GCT, or as being involved in tumorigenesis. Several lines of evidence from our own and others work suggest that individual HERV-K(HML-2) proviruses are polymorphic in the human population both for provirus structure and for coding capacity for clinically relevant proteins. Human individuals are also likely polymorphic for the number of coding HERVK( HML-2) proviruses. The significance of HERV-K(HML-2) allelic variation in the context of GCT is hitherto unknown. In this follow-up study to DFG grant Me917/16-1, we propose to study allelic variation of HERV-K(HML-2) in the human population and in GCT in great detail to comprehend the role of HERV-K(HML-2) alleles in normal and diseased indivduals.

• DFG Programme: Research Grants
• Participating Person: Professor Dr. Jens Mayer