
The International Rett Syndrome Foundation has posted the following story on their website featuring Xinyu Zhao, PhD, an associate professor of physiology and a new Waisman investigator in the stem cell research program, molecular and genetic sciences group.
“The majority of individuals with Rett syndrome are female and are considered genetically ‘mosaic’ due to random inactivation of the X-chromosome (XCI) which occurs in around half of all their cells. As a result, for a girl with Rett syndrome, roughly half of all her cells will express genes from the chromosome containing the mutation in MECP2, randomly throughout her entire body. In order to better understand this phenomenon, a team of investigators at the University of New Mexico developed a novel “Green” Rett mouse. The team, led by IRSF funded researcher Dr. Xinyu Zhao crossed two existing genetic mouse models – one in which half of all cells in the animal lack a functional copy of mecp2 while the other model has a normal copy of mecp2, but also co-expresses green fluorescent protein (GFP) – a protein first isolated from jellyfish that is commonly used as a way of labeling cells. Now researchers for the first time have a way of looking at cells in a mouse brain to find out which are expressing a normal versus a mutant copy of the MeCP2 gene. Given the important function of MeCP2 in neuronal development, data emerging from the new mouse model sheds light on how MeCP2 loss affects postnatal brain function and highlights dynamic changes in the neurological symptoms of RTT later in development.”
The study was carried out by researchers based at the University of New Mexico and published in an advance online in the journal Human Molecular Genetics.