The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses. Academic Article uri icon

Overview

abstract

  • Mutations in the Tulp1 gene cause severe, early-onset retinitis pigmentosa (RP14) in humans. In the retina, Tulp1 is mainly expressed in photoreceptors that use ribbon synapses to communicate with the inner retina. In the present study, we demonstrate that Tulp1 is highly enriched in the periactive zone of photoreceptor presynaptic terminals where Tulp1 colocalizes with major endocytic proteins close to the synaptic ribbon. Analyses of Tulp1 knock-out mice demonstrate that Tulp1 is essential to keep endocytic proteins enriched at the periactive zone and to maintain high levels of endocytic activity close to the synaptic ribbon. Moreover, we have discovered a novel interaction between Tulp1 and the synaptic ribbon protein RIBEYE, which is important to maintain synaptic ribbon integrity. The current findings suggest a new model for Tulp1-mediated localization of the endocytic machinery at the periactive zone of ribbon synapses and offer a new rationale and mechanism for vision loss associated with genetic defects in Tulp1.

publication date

  • February 24, 2016

Research

keywords

  • Endocytosis
  • Eye Proteins
  • Photoreceptor Cells
  • Synapses

Identity

PubMed Central ID

  • PMC4764665

Scopus Document Identifier

  • 84959353568

Digital Object Identifier (DOI)

  • 10.1167/iovs.06-0059

PubMed ID

  • 26911694

Additional Document Info

volume

  • 36

issue

  • 8