Maelstrom Quashes Jumping Genes - Drug Discovery and Development

Scientists have known for decades that certain genes (called transposons) can jump around the genome in an individual cell. This activity can be dangerous, however, especially when it arises in cells that produce eggs and sperm. Such changes can threaten the offspring and the success of a species. To ensure the integrity of these cells, nature developed a mechanism to quash this genetic scrambling, but how it works has remained a mystery. Now a team of scientists, including researchers at the Carnegie Institution’s Department of Embryology, has identified a key protein that suppresses jumping genes in mouse sperm and found that the protein is vital to sperm formation.

“There is a tiny cell component that is unique to germ cells—the precursors to egg and sperm—called nuage, which means ‘cloud’ in French. Other researchers recently suspected that nuage was involved in keeping genes from jumping around in germ cells of the female fruit fly,” explained Carnegie’s Alex Bortvin, a senior author of the study. “But until this mouse study, no one knew for sure if it was involved in mammalian germ cells. To test if the mouse nuage played a similar role in mammals, we focused on a mouse protein called Maelstrom whose distant relative protein in the fruit fly was implicated in the other study.”

In this research, published in Developmental Cell, the scientists first looked at where the protein Maelstrom resides during the formation of sperm. By marking the protein with a fluorescent antibody, they found that it was predominantly located in the cytoplasm, near the nucleus of the germ cell, at the nuage. To understand what Maelstrom does during the formation of sperm, the scientists created mutant mice that did not have the gene to produce the Maelstrom protein.

Release date: August 11, 2008
Source: Carnegie Institution for Science