The Genetic and Developmental Roles of DZIP1 on Mitral Valve Prolapse
School Name
Governor's School for Science & Mathematics
Grade Level
12th Grade
Presentation Topic
Cell and Molecular Biology
Presentation Type
Mentored
Abstract
DZIP1 is a gene that is involved with producing cilia, long projections that aid in disease prevention. The genotypes of members of a large family where mitral valve prolapse is prevalent were examined, revealing that many of the affected family members had a mutation in this gene. Using a quick change point mutation protocol, DZIP1’s interactions with other proteins were examined to determine if it caused a loss of function through protein instability. It was discovered that DZIP does interact with various ciliary proteins such as MECOM and CHIBBY in the centrioles of cilia.
Recommended Citation
Swanson, Paige, "The Genetic and Developmental Roles of DZIP1 on Mitral Valve Prolapse" (2017). South Carolina Junior Academy of Science. 33.
https://scholarexchange.furman.edu/scjas/2017/all/33
Location
Wall 209
Start Date
3-25-2017 12:00 PM
Presentation Format
Oral and Written
Group Project
No
The Genetic and Developmental Roles of DZIP1 on Mitral Valve Prolapse
Wall 209
DZIP1 is a gene that is involved with producing cilia, long projections that aid in disease prevention. The genotypes of members of a large family where mitral valve prolapse is prevalent were examined, revealing that many of the affected family members had a mutation in this gene. Using a quick change point mutation protocol, DZIP1’s interactions with other proteins were examined to determine if it caused a loss of function through protein instability. It was discovered that DZIP does interact with various ciliary proteins such as MECOM and CHIBBY in the centrioles of cilia.
Mentor
Mentor: Russell Norris, Medical University of South Carolina