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  • team
  • department
  • center
  • program_project
  • nrc
  • whocc
  • project
  • software
  • tool
  • patent
  • Administrative Staff
  • Assistant Professor
  • Associate Professor
  • Clinical Research Assistant
  • Department Manager
  • Full Professor
  • Graduate Student
  • Lab assistant
  • Non-permanent Researcher
  • Permanent Researcher
  • Pharmacist
  • PhD Student
  • Physician
  • Post-doc
  • Project Manager
  • Research Associate
  • Research Engineer
  • Retired scientist
  • Technician
  • Undergraduate Student
  • Veterinary
  • Visiting Scientist
  • Deputy Director of Center
  • Deputy Director of Department
  • Deputy Director of National Reference Center
  • Deputy Head of Facility
  • Director of Center
  • Director of Department
  • Director of Institute
  • Director of National Reference Center
  • Group Leader
  • Head of Facility
  • Head of Operations
  • Head of Structure
  • Honorary President of the Departement
  • Labex Coordinator
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Scientific Fields
Diseases
Organisms
Applications
Technique
Starting Date
01
Oct 2020
Status
Ongoing
Members
1
Structures
5
Instituts
3

About

The Usher syndrome (USH) is the main genetic disorder characterized by congenital hearing loss associated with progressive visual impairment. In the healthy person, each cochlear sensory cell from the inner ear presents hair bundles composed of very regular actin-filled stereocilia, which transform sound vibrations into nerve impulses transmitted to the brain. Links between adjacent stereocilia are essential for the development and functioning of stereocilia. In USH2 individuals, the hair bundles are completely disorganized and tangled, leading to sensory cell physiology dysfunction. The protein products of USH2 causative and modifier genes, Usherin, ADGRV1, Whirlin (WHRN) and associated PDZD7 protein, interact within a multiprotein complex at the basal link region of the hair bundle. The actin-binding proteins myosins Myo7A and 15A anchor this complex to the actin filaments of stereocilia. Defects in this complex cause the hair bundle disorganization and deafness-causing mutations have been identified in all the corresponding genes.
The pathophysiological knowledge and the precise role of USH proteins are incomplete and still need to be specified despite the study of animal models (mice) presenting a phenotype analogous to USH patients. Studies on the USH protein-protein interactions have provided insights on their role in the stereocilia.
We aim at understanding the mechanisms of interaction between Myo7A, Myo15A, WHRN and PDZD7 as well as the molecular impact of mutations in these proteins identified in the USH2 syndrome.

Fundings