Black rockfish (Sebastes melanops) is an important marine recreational species throughout the Pacific Northwest. Recent catch data indicate a trend of age-truncation in the black rockfish population off the Oregon coast, with older females rapidly disappearing from the population. In populations with broad age distributions, older fish may contribute disproportionately...
Hearing loss is one of the most common defect, affecting 360 million people worldwide due to several factors including congenital, present at or soon after birth or acquired with age. Congenital hearing loss affects 32 million children in the world. The economic impact of hearing loss is estimated to cost...
A fundamental difference between prokaryotic and eukaryotic cells is the presence of membrane bound organelles in eukaryotes. The dynamics of membrane trafficking within the cell are responsible for everything from intercellular communication and cell homeostasis, to mitosis, cell migration, and differentiation. These processes require exocytosis and compensatory endocytosis, often working...
The focus of this dissertation was to understand protein function and structure ona molecular level. To do this successfully, a variety of biochemical and biophysicaltechniques were employed. A wide variety of techniques were applied to study theproteins of interest in this dissertation to probe protein-protein interactions, proteinfunction, protein structure, and...
Congenital hearing loss is a common disorder and over 60 mutations in the sensory hair cell protein, otoferlin, have been linked to pre-lingual deafness. Although otoferlin is essential for hearing, the large size and low solubility of the protein have limited approaches to study its function on a molecular-level. To...
Otoferlin is a protein that is essential in the process of hearing. Mutations in otoferlin are associated with profound recessive deafness. The long-term goal of the Johnson lab is to understand how otoferlin contributes to hearing and why certain mutations result in deafness. This project sought to characterize the difference...
Auditory defects and disorders are prevalent at all ages and affect 8% of the population in developed nations including newborns and children. Congenital hearing loss is the most common birth defect and it is estimated that 1 in 1000 children are affected by deafness at birth or before the onset...
Otoferlin is a C2-domain, transmembrane protein whose mutated form is responsible for the DFNB9 subtype of prelingual hearing impairment. Mutations in otoferlin cause an autosomal recessive, non-syndromic form of deafness that is characterized by auditory neuropathy/ auditory dissynchrony (AN/AD), meaning that the outer hair cells (OHCs) are normal, and the...
Dysferlin is a ∼230 kDa terminally anchored membrane protein that is ubiquitously expressed, but is particularly enriched in skeletal and cardiac muscle tissue. Mutations covering the length of the protein have been linked to muscle wasting diseases including limb-girdle muscular dystrophy and Myoshi myopathy. Dysferlin has been shown to play...