Collagens are the main structural components of the vertebrate body. Genes that produce these collagens share unusual characteristics such as a repetitive coding sequence that is divided into >50 short segments. Altering these gene segments or sequences causes a broad spectrum of skeletal and connective tissue disorders in primates and humans. This project utilizes the collagen type I alpha 1 (COL1a1) gene, which is associated with variation in bone strength and susceptibility to skeletal disease, to investigate how beneficial and harmful mutations arise. The researchers will use statistical models to investigate how gene structure (e.g., gene length and content) has changed among humans and other primates over time to predict which regions of the gene are more likely to mutate.
Determining how functional change has occurred at COL1a1 advances our understanding of why bone strength varies among individuals. Future screening methods can target the gene regions identified in this research as most likely to predict harmful bone-related disorders. The project will contribute to the training of a female graduate student as well as undergraduate students from under-represented groups. The graduate student co-PI on this project has previously trained minority undergraduates through her research.
