Effect of Normal Polyglutamine Polymorphism on Huntington Disease Protein Function
Location
CSU Ballroom
Start Date
21-4-2008 1:00 PM
End Date
21-4-2008 3:00 PM
Student's Major
Biological Sciences
Student's College
Science, Engineering and Technology
Mentor's Name
Geoffrey M. Goellner
Mentor's Department
Biological Sciences
Mentor's College
Science, Engineering and Technology
Description
Huntington Disease (HD) is a progressive neurodegenerative disorder that causes deterioration of specific brain cells-- leading to uncontrolled movement, emotional disturbance, and ultimately death. HD results from a mutation in the DNA encoding the protein huntingtin-- a large protein of unknown function ubiquitously expressed throughout all tissues of the human body. Interestingly, huntingtin contains a polyglutamine (polyQ) tract near its NH2-terminus that is normally polymorphic within the human population (Q6- Q35), but that increases in size well beyond its normal range to cause the disease. It is unclear what consequence normal polyQ polymorphism has on huntingtin function within cells. To shed light on this question, we are deriving a series of HD constructs differing in polyQ tract length. To date, we have in hand, huntingtin constructs with 23, 45, 55, and 86 glutamines. These constructs can ultimately be used to perform protein localization experiments within tissue culture cells to determine whether or not normal polyQ tract length polymorphism effects huntingtin intracellular localization.
Effect of Normal Polyglutamine Polymorphism on Huntington Disease Protein Function
CSU Ballroom
Huntington Disease (HD) is a progressive neurodegenerative disorder that causes deterioration of specific brain cells-- leading to uncontrolled movement, emotional disturbance, and ultimately death. HD results from a mutation in the DNA encoding the protein huntingtin-- a large protein of unknown function ubiquitously expressed throughout all tissues of the human body. Interestingly, huntingtin contains a polyglutamine (polyQ) tract near its NH2-terminus that is normally polymorphic within the human population (Q6- Q35), but that increases in size well beyond its normal range to cause the disease. It is unclear what consequence normal polyQ polymorphism has on huntingtin function within cells. To shed light on this question, we are deriving a series of HD constructs differing in polyQ tract length. To date, we have in hand, huntingtin constructs with 23, 45, 55, and 86 glutamines. These constructs can ultimately be used to perform protein localization experiments within tissue culture cells to determine whether or not normal polyQ tract length polymorphism effects huntingtin intracellular localization.
Recommended Citation
Haus, Daniel L.. "Effect of Normal Polyglutamine Polymorphism on Huntington Disease Protein Function." Undergraduate Research Symposium, Mankato, MN, April 21, 2008.
https://cornerstone.lib.mnsu.edu/urs/2008/poster-session-B/7
