Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes
Meghan E. Wynne, Stephanie A. Zlatic, Austin S Park, Amanda J. Crocker, Hadassah Mendez-Vazquez, Eliana Liporace Liporace, Avanti Gokhale, Cristy Tower-Gilchrist, Maxine Robinette, Ryan H. Purcell, Gary Jonathan Bassell, Erica Werner, Jennifer Q. Kwong, Victor Faúndez
The paper identifies haploinsufficient genes MRPL40 and SLC25A1 in the 22q11.2 locus and shows their genetic interactions contribute to cardiac and brain phenotypes in mice.
Human Molecular Genetics · Jan 1, 2026Peer-reviewedNeuroscience