Seth Palmer
Pronouns: he/him
Research Mentor(s): Ming Li
Co-Presenter:
Research Mentor School/College/Department: MCDB / LSA
Presentation Date: April 20
Presentation Type: Oral5
Session: Session 6 – 4:40pm – 5:30 pm
Room: Breakout room 1
Authors:
Presenter: 5
Abstract
When working on a lysosomal cystine transporter using western blotting experiments, a smaller isoform of the transporter was identified. There was not much knowledge about the isoform, so this study aimed to further understand the identity of the isoform. The study uses Alanine screening, wherein the mutation of a short region of the protein to alanine; Cloning, which includes PCR, digestion, ligation, and transformation; Transfection, inserting the gene into cells; and Western Blotting, an imaging technique that displays the amount of protein in a cell. The study is still underway, but it is expected that one of the constructs made in the alanine screening will abolish the presence of the smaller isoform, as the smaller isoform is thought to be an internal translation product. Once the identity of the isoform is confirmed, it will be able to be expressed alone, and its cystine transport activity will be measured. The transporter being worked on has no reports of a smaller isoform ever being present. The transporter is known to be involved in the disease cystinosis, so understanding the smaller isoform and its functionality may bring greater insights on the disease itself, and the tendency of patients to have mutations cluster in one region of the protein. Additionally, the more complete knowledge of the disease brought about by studying this isoform lend assistance in designing new therapies.
Interdisciplinary, Natural/Life Sciences
