Domyan, Eric; Godoy, Daniela; Gardiner, Kylan (Utah Valley University)
Faculty Advisor: Domyan, Eric (Science, Biology)
Pigmentation is one of the main traits we notice when we look at something, whether it be a flower, an animal, or another human. Variation in pigmentation arises when random mutations affect the function of a gene involved in pigmentation production. In this research our goal is to understand a specific mutation that happens in Pigeons which involves the TYRP1 gene.
The TYRP1 gene instructs the making of the tyrosinase-related protein. This enzyme is located in melanocytes, which are cells that produce melanin. Studies suggest that this enzyme may help stabilize tyrosinase, which is responsible for the first step in melanin production.
TYRP1 has a signal peptide which directs the protein to the ER (endoplasmic reticulum) where the signal peptide is removed before the mature protein is trafficked to melanosomes to perform its normal function. The Ash-red mutation, however, prevents removal of the signal peptide, which somehow results in pheomelanin synthesis (red) instead of eumelanin synthesis (dark blue). These findings suggest that the Ash-red mutation is causing the TYRP1 protein to perform a new function. The goal of this project is to better understand the synthesis and trafficking of TYRP1 throughout the cell organelles.
To study this, we plan to use transgenesis to express normal, or Ash-red versions of TYRP1 protein in melanocytes, label the different intracellular compartments using an immunostain, and determine whether normal or Ash-red TYRP1 proteins are being sent to the same, or different compartments of the cell.