Authors: Adriana Bibo, Nicole Losurdo, Nichole Link
Mentors: Nichole Link, Cindy Greaves
Insitution: University of Utah
Microcephaly is a neurodevelopmental disorder characterized by occipital frontal circumference (OFC) more than two standard deviations below the mean. It can be accompanied by comorbidities including intellectual disabilities, seizures, and other developmental phenotypes. Microcephaly is attributed to malnutrition and exposure to toxins or infection during pregnancy, but genetic mutations are also a leading cause. To investigate the genetic mechanisms behind microcephaly, our lab collaborates with a physician who has completed whole exome sequencing for two hundred microcephaly patients. He identified potentially pathogenic human variants, which we are studying using Drosophila melanogaster as our model organism. We screened for loss of function phenotypes through RNAi knockdown of fly orthologs to determine if these genes are necessary for brain development. In our primary screen, we found that RNAi knockdown of Bx42 in neural stem cells or post-mitotic neurons causes significantly reduced brain lobe volume. In our current study, we are assessing potential causes for reduced brain lobe volume. We seek to determine if RNAi knockdown of Bx42 in neural stem cells or neurons affects cell number, proliferation, or death in developing brains.