Jackson Laboratory researchers identify a gene vital to female fertility

Date: March 28, 2012
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Bar Harbor, Maine—Jackson Laboratory researchers have found a gene that controls multiple processes essential to building a viable mammalian egg, making it a master regulator of egg development.

The research team, led by Professor John Eppig, Ph.D., showed that a gene they named Marf1 in mice directs key processes needed to produce eggs capable of being fertilized and developing into healthy babies. Defects in the gene resulted in a cascade of abnormalities, resulting in defective egg production and female infertility.

The defects in egg development are all linked to a surprising common cause, Eppig explains: “higher-than-normal levels of several specific factors that are normally present during egg development.” Therefore, he says, the function of normal Marf1 is crucial for preventing the overproduction of these factors during egg development.

Among the processes affected by this overproduction are meiosis and protection of egg DNA from damage. Meiosis occurs during the development of sperm and eggs and reduces that number of chromosomes to half that found in other cells of the body. Then, when the sperm and egg fuse at fertilization, the number of chromosomes is restored to that found in body cells, thus allowing normal development of babies. 

Mutations of the Marf1 gene result in the arrest of meiosis during egg, but not sperm, development. Marf1 mutant male mice are fertile, but pass the abnormal gene to their offspring.

The team’s findings suggest that defects in the human version of the gene, MARF1, could be implicated in some women’s inability to conceive.

The Jackson Laboratory is an independent, nonprofit biomedical research institution and National Cancer Institute-designated Cancer Center based in Bar Harbor, Maine, with a facility in Sacramento, Calif., an institute for genomic medicine planned in Farmington, Conn., and a total staff of about 1,400. Its mission is to discover the genetic basis for preventing, treating and curing human disease including infertility, and to enable research and education for the global biomedical community.

Su et al.: MARF1 regulates essential oogenic processes in mice. Science, March 22, 2012, 10.1126/science.1214680.


Joyce Peterson, 207-288-6058, The Jackson Laboratory

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