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Katharine Miller

PhD

     

Pei Weng

PhD

     

Nicolas Grillet

PhD

LOXHD1/DFNB77 is a deafness gene in humans and mice whose function at the molecular level is unknown and its identification the focus of this project. We recently found that LOXHD1 is required for the mechanotransduction process, the first step in the hearing process, but is unique in that it is required only after a week of normal function (Trouillet, 2021, J.Neurosci.). Our collaborative approaches to this project use the cell physiology expertise of the Ricci lab to study functional changes in the mechanotransduction process in response to our genetic manipulations of LOXHD1. We use our genetic, molecular and optical expertise to generate models to be tested, to identify interacting partners and to assess the structural changes associated with these mutations.

We identified LOXHD1/DFNB77 as a deafness gene in humans and mice, and we want to understand its function at the molecular level. We recently found that LOXHD1 is required for the mechanotransduction process, the first step in the hearing process, but is unique in that it is required only after a week of normal function (Trouillet, 2021, J.Neurosci.). We use our genetic, molecular and optical expertise to generate models to be tested, to identify interacting partners and to assess the structural changes associated with these mutations. Pei uses CRISPR/Cas9 genome editing to produce new mouse and Katharine uses her expertise in imaging to localize LOXHD1 protein at the highest resolution using electronic microscopy in the hair bundle.

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