Analysis of Polyglutamine Tract Length Polymorphism within the Novel Protein KIAA1946
Location
CSU 253/4/5
Start Date
4-4-2011 1:30 PM
End Date
4-4-2011 3:00 PM
Student's Major
Biological Sciences
Student's College
Science, Engineering and Technology
Mentor's Name
Geoffrey Goellner
Mentor's Department
Biological Sciences
Mentor's College
Science, Engineering and Technology
Description
The purpose of this research project was to determine whether the polyglutamine (polyQ) tract within the novel protein KIAA1946 was polymorphic in humans. Nine hereditary neurodegenerative diseases, such as Huntington‘s disease (HD), Kennedy‘s disease, Dentatorubralpallidoluysian atrophy (DRPLA), and six forms of Spinocerebellar ataxia (SCA), are called polyQ diseases because their etiology is characterized by an abnormal expansion of a polyQ repeat. For example, HD manifests when the polyQ tract in HD protein includes more than 35 consecutive glutamines. More interestingly, the polyQ tract length is polymorphic (different) even in the general population, showing that high mutation rates and genetic variations are common in polyQ tracts. We were specifically interested in KIAA1946; as it is a completely uncharacterized protein that contains a polyQ tract of approximately 16 glutamines, and is likely expressed in various tissues including the nervous system. The project investigated the length of polyQ tract in KIAA1946 by analyzing participants‘ DNA samples collected from their cheek cells (MSU IRB#5668). The DNA samples were amplified by PCR (polymerized chain reaction), run on PAGE (polyacrylamide gel electrophoresis), and analyzed by a DNA sequencer. By studying polyQ tract length in KIAA1946, this research could provide insight in understanding polyQ disease polymorphism and the relationship between KIAA1946 and polyQ diseases.
Analysis of Polyglutamine Tract Length Polymorphism within the Novel Protein KIAA1946
CSU 253/4/5
The purpose of this research project was to determine whether the polyglutamine (polyQ) tract within the novel protein KIAA1946 was polymorphic in humans. Nine hereditary neurodegenerative diseases, such as Huntington‘s disease (HD), Kennedy‘s disease, Dentatorubralpallidoluysian atrophy (DRPLA), and six forms of Spinocerebellar ataxia (SCA), are called polyQ diseases because their etiology is characterized by an abnormal expansion of a polyQ repeat. For example, HD manifests when the polyQ tract in HD protein includes more than 35 consecutive glutamines. More interestingly, the polyQ tract length is polymorphic (different) even in the general population, showing that high mutation rates and genetic variations are common in polyQ tracts. We were specifically interested in KIAA1946; as it is a completely uncharacterized protein that contains a polyQ tract of approximately 16 glutamines, and is likely expressed in various tissues including the nervous system. The project investigated the length of polyQ tract in KIAA1946 by analyzing participants‘ DNA samples collected from their cheek cells (MSU IRB#5668). The DNA samples were amplified by PCR (polymerized chain reaction), run on PAGE (polyacrylamide gel electrophoresis), and analyzed by a DNA sequencer. By studying polyQ tract length in KIAA1946, this research could provide insight in understanding polyQ disease polymorphism and the relationship between KIAA1946 and polyQ diseases.
Recommended Citation
Lee, Han. "Analysis of Polyglutamine Tract Length Polymorphism within the Novel Protein KIAA1946." Undergraduate Research Symposium, Mankato, MN, April 4, 2011.
https://cornerstone.lib.mnsu.edu/urs/2011/poster-session-C/10
