Research reveals role of gene in infertility

A paper describing discoveries about the role of a gene that is important in all animals, plants, and fungi is published in the 20 July 2004 issue of the journal Proceedings of the National Academy of Sciences. One of the discoveries is that the gene, named RAD51, plays an essential role in the the process of recombining the genetic material in chromosomes during sexual reproduction in plants. In humans, defects in this process can cause a fetus to have abnormal numbers of chromosomes, resulting in infertility, miscarriages, or birth defects. The new discoveries about the gene's role in plants suggest that it also may have an essential role in the production of sperm and egg cells in humans and other mammals.

One of the most surprising results of the research is that the RAD51 gene is not essential for survival in plants, as it is known to be in mammals. "It is well known that a mouse fetus that inherits two defective copies of the RAD51 gene will die very soon after conception, so we were quite surprised to find that our mutant plants, which have two defective copies of this gene, develop quite normally--except that they are sterile," reports Hong Ma, professor of biology at Penn State University and the leader of the research team that made the discoveries in collaboration with the Bernd Reiss group at the Max-Planck Institute for Plant Breeding Research at Cologne, Germany.

The team's work reveals specific functions of the protein products of the RAD51 gene, including the pairing of compatible chromosomes--the structures that contain the cell's genes--during the process of meiosis, when an organism's reproductive cells form during its development, and also the repairing of breaks in the chromosomes that occur during this and other process. "Our research leads us to suspect that plant cells repair breaks in their DNA in a different way from mammal cells, which just stop growing if the RAD51 gene is not functioning," Ma says.


Contact: Barbara K. Kennedy
Penn State

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