Male germ cells are primarily responsible for genetic changes

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Professor Bjorn Schumacher

Image: Professor Bjorn Schumacher
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Credits: Michael Wodak, MedizinFotoKöln

The German Research Foundation (DFG) is funding €1.25 million over five years for the project “Sex-Specific Contributions to Heredity” by Cologne-based geneticist Dr. Björn Schumacher. Schumacher’s research contributes to a better understanding of the causes of inherited genetic mutations.

By far the largest number of genetic mutations in humans occurs in the male germline. However, little is known why it is the sperm, not the egg cell, that drives most genetic changes in the offspring. About two new genetic changes, so-called mutations, occur in each lifetime. As a result, the risk of certain neurological disorders, such as autism, increases with paternal age at conception. In the now-funded Reinhard-Koserek project, Schumacher set out the goal of figuring out why it is precisely the male germ cells that are responsible for genetic alterations.

Schumacher’s project builds on pioneering findings made by a research team at the Institute for Genomic Stability in Aging and Disease of the CECAD Cluster of Excellence in Aging Research at the University of Cologne. To investigate the complex process of genetic inheritance, the Cologne scientists focused on a biological model in C. elegans. The genetic mechanism of this simple animal is very similar to that of humans. Now, the researchers show that particularly mature sperm cannot repair damage to genetic material. Only after fertilization does the repair system of the female egg’s cells deal with the damage, and its repair is highly imprecise. This results in the misconnection of previously occurring breaks in the paternally inherited information in the genetic molecule DNA.

These so-called structural mutations in the genome are thus a combination of defective paternal and incomplete maternal repair. Interestingly, the same structural variation in the genome also arises in humans from the paternal, but not maternal, origin. The effects of such genomic alterations can persist for many generations in C. elegans. Long-term effects in humans are still poorly understood.

Research projects will focus on understanding the failure to repair damage to the paternal genome. First, investigate which factors influence repair. After all, there is also a completely error-free repair system. In addition, the effects of her father’s DNA damage on offspring health will also be investigated. In addition, the effects of paternal age and female oocyte age will be explored on inherited genetic alterations. “We hope that the Koserec project will provide entirely new insights into the causes of inherited genetic changes. This will give us a better understanding of the risk factors,” says Professor Bjorn Schumacher.

Professor Bjorn Schumacher
Institute for Genome Stability in Aging and Disease / CECAD – Cluster of Excellence Cellular stress responses in age-related diseases
+49 221 478 84202

Press and Communications:
Dr. Anna Outeneuer
+49 221 470 1700

Further information
CECAD – Cluster of Excellence Cellular stress responses in age-related diseases
Website Professor Schumacher
Reinhard Koserek Project

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