Intracellular Localization of Novel Polyglutamine Protein FAM171B

Location

CSU Ballroom

Start Date

16-4-2013 10:00 AM

End Date

16-4-2013 12:00 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

Approximately 25,000 different proteins have been identified via the human genome project. FAM171B is one of those uncharacterized proteins. This protein, which is located on chromosome 2q32.1, has a polyglutamine (polyQ) stretch within its primary amino acid sequence. An expansion of this polyglutamine stretch have been implicated in various neurodegenerative diseases such as Huntington's Disease. Bioinformatics has helped us understand much more about this protein.

FAM171B is likely expressed in the nervous system and contains a putative signal sequence and a single transmembrane domain. This data could suggest that the normal function of this protein is within the endomembrane system of neurons and mutations in the polyQ stretch could lead to implications in a uncharacterized nuerodegenerative disease. In this experiment we set to find out the normal cellular function of FAM171B by finding where it localizes in the cell and to assay the degree of polymorphism in it's polyQ stretch to understand the mutation potential. By using immunofluorescence we found that FAM171B displays a punctuate vesicular-like staining pattern within the cytoplasm of COS-7, HELA, and HEK cells, which is what our bioinformatics predicted. Our lab also used DNA genotyping assays to find that the polyQ tract within FAM171B is decently stable within the human population with 96.5% homogeneity. This suggests that FAM171B may not be a solid candidate for causing a neurodegenerative disease. With these initial findings from localization and polymorphism studies, we found that FAM171B is a stable cytoplasmic proteins localizing to vesicular organelles.

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Apr 16th, 10:00 AM Apr 16th, 12:00 PM

Intracellular Localization of Novel Polyglutamine Protein FAM171B

CSU Ballroom

Approximately 25,000 different proteins have been identified via the human genome project. FAM171B is one of those uncharacterized proteins. This protein, which is located on chromosome 2q32.1, has a polyglutamine (polyQ) stretch within its primary amino acid sequence. An expansion of this polyglutamine stretch have been implicated in various neurodegenerative diseases such as Huntington's Disease. Bioinformatics has helped us understand much more about this protein.

FAM171B is likely expressed in the nervous system and contains a putative signal sequence and a single transmembrane domain. This data could suggest that the normal function of this protein is within the endomembrane system of neurons and mutations in the polyQ stretch could lead to implications in a uncharacterized nuerodegenerative disease. In this experiment we set to find out the normal cellular function of FAM171B by finding where it localizes in the cell and to assay the degree of polymorphism in it's polyQ stretch to understand the mutation potential. By using immunofluorescence we found that FAM171B displays a punctuate vesicular-like staining pattern within the cytoplasm of COS-7, HELA, and HEK cells, which is what our bioinformatics predicted. Our lab also used DNA genotyping assays to find that the polyQ tract within FAM171B is decently stable within the human population with 96.5% homogeneity. This suggests that FAM171B may not be a solid candidate for causing a neurodegenerative disease. With these initial findings from localization and polymorphism studies, we found that FAM171B is a stable cytoplasmic proteins localizing to vesicular organelles.

Recommended Citation

Hintze, Seth and Brittany Stamer. "Intracellular Localization of Novel Polyglutamine Protein FAM171B." Undergraduate Research Symposium, Mankato, MN, April 16, 2013.
https://cornerstone.lib.mnsu.edu/urs/2013/poster-session-A/7