Carolyn Kwon
Research Mentor: Yuji Mishina
Mentor Department: Biological and Material Sciences, Dentistry
Author(s): Carolyn Kwon, Sher Khehra, Yuji Mishina
Session: Session 3 (11:00 AM – 11:50 AM)
Presentation Type: Poster 132
Abstract
Ellis-Van Creveld (EVC) syndrome, a form of autosomal-recessive chondrodysplasia, is a rare genetic disorder resulting in dwarfism. It is characterized by dental anomalies, cardiovascular malfunctions, and skeletal defects—such as short ribs, short limbs, and extra digits. One cause is a mutation in the Evc2 gene, so we generated several mouse models with mutations in this gene. Evc2 conventional and conditional null mice well recapitulated the aforementioned human pathology. We also found that the downregulation of this gene is highly associated with the morphological differences of skulls between chimpanzees and humans due to the length of the skull base. During the study, we found one amino acid in exon 8 of the gene, where glycine can be found for Cro-Magnons, but serine is found for every other species, including Neanderthal, so we generated Evc2/Limbin global knockin mutant mice to replace serine with glycine. We sought to identify changes in the formation of the skull bases by studying Cro-Magnonized mice of different ages—a group of mice approximately 1 and 2 months old, and a group approximately 7 months old. Through micro-CT imaging analyses, the skull bases of these mice were examined to identify phenotypic differences, particularly by comparing the lengths of the distances between many landmark structures. We found that there was no significant difference in the skull base lengths between the landmark structures, regardless of age or genotype. Moving forward, these techniques will continue to be applied to gain a deeper understanding of the effects that the different mutations have on the skull base. This study is part of a growing body of research on the effects of Evc2 gene mutations, and in studying this largely unexplored area, this project will contribute to future research on the evolution of Cro-Magnon craniofacial structures and their impact on skull base formation.
