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One of this lab’s long-term research goals is to achieve a full understanding of protocadherin 15 encoded by PCDH15. Mutant alleles of PCDH15 are known to cause either combined hearing loss and vision impairment (Usher syndrome type 1F) or nonsyndromic deafness (DFNB23). Understanding protocadherin 15 is crucial to understanding both functional and impaired vision and hearing.
In collaboration with Guy Richardson at the University of Sussex, we reported more than 30 alternatively spliced transcripts of Pcdh15 in the mouse retina and inner ear and definitively demonstrated that protocadherin 15 is a component of tip link, which is essential for normal mechanotransduction in inner ear hair cells.
We intend to unveil the precise cellular and subcellular roles of the four isoform classes of protocadherin 15 in the mouse eye and ear. To this end, we have developed mouse conditional knockout lines for each of the four isoforms. We are currently working to characterize these alleles of Pcdh15 through gross morphological, behavioral, immunological and physiological studies.
click to enlarge
Transcripts of Pcdh15 in the mouse retina and inner ear.
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