Now, scientists in Japan and at the University of California, San Diego (UCSD) School of Medicine have discovered a novel regulatory role for one pseudogene, showing that it stabilizes a similar protein-coding gene on another chromosome. When the pseudogene was disabled, protein-production was compromised, with resulting abnormal kidneys and bones in laboratory mice. When a functioning pseudogene was re-introduced into mouse embryos, the mice developed normally.
Published in the May 1, 2003 issue of the journal Nature, the study was led by Shinji Hirotsune, M.D., Ph.D., Division of Neuro-Science, Research Center for Genomic Medicine, Saitama Medical School, Japan. Hirotsune collaborated with Anthony Wynshaw-Boris, M.D., Ph.D., UCSD associate professor of pediatrics and medicine, in whose lab he first starting exploring pseudogene function several years ago.
"These findings have implications for treating human disorders," said Hirotsune. "The mice get disease if the pseudogene is interrupted, so theoretically it's possible that a malfunctioning pseudogene may cause human disease, as well."
The team's discovery happened by chance. The researchers were making transgenic mice for a totally different experiment. The process included injection of DNA into fertilized eggs, causing the DNA to randomly integrate into the mouse genome.
"You hope that a transgenic mouse will manifest direct effects from the gene that you inject, so you can learn something about the function of that gene," said Wynshaw-Boris. "However, because the inserted gene randomly integrates itself, sometimes it fortuitously interrupts another gene that's in the genome and produces mice wi
Contact: Sue Pondrom
University of California - San Diego