Gene Mutation Causing Infertility in Male Mice

Filed in archive Genomics, Proteomics and Bioinformatics on April 12, 2007

Cornell University researchers have identified a mutation in a gene in mice that causes male infertility.

The gene, called Dmc1, provides the code for a key protein involved in meiosis, the process that produces sperm and egg cells for reproduction. These sex cells contain only one set of chromosomes that combine during conception and create an embryonic cell with two chromosome sets, one from each parent.

The Dmc1 mutation causes a change in an amino acid that blocks meiosis in its tracks, preventing sperm production.

This is the first time that a dominant mutation that leads specifically to infertility in a mammal has been discovered, and may be instrumental in identifying whether such genetic disruptions also cause infertility in male humans.