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Retinitis Pigmentosa and Allied Disorders

Andrew P. Schachat MD, in Ryan's Retina, 2018

USH Interactome

The USH genes encode proteins of different classes and families, including motor proteins, scaffold proteins, cell adhesion molecules and transmembrane receptor proteins. In vitro direct interaction studies between USH proteins and also localization studies in mouse models have, however, suggested functional relationships between these proteins such that an “USH interactome” has been proposed.606 In these studies, it should be noted, however, that although all the USH mouse models show severe hearing loss and vestibular dysfunction, only the Ush2A-/- mouse, shows signs of RP.607 From such work, a “multiprotein scaffold complex” model has been proposed for harmonin, whirlin, and sans. There is also evidence that harmonin and whirlin can bind all other components of the USH network, including cadherin 23, protocadherin 15, usherin, VLGR1 and myosinVIIA.569,603,608


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