Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis
Ali S. Sharif, Cecilia D. Gerstner, Martha A. Cady, Vadim Y. Arshavsky, Christina A. Mitchell, Guoxin Ying, Jeanne M. Frederick, Wolfgang Baehr
Abstract
rods display accumulation of intraflagellar transport particles A and B at their distal ends, suggesting disrupted intraflagellar transport. Although INPP5E ablation may not prevent delivery of outer segment-specific proteins by means of the photoreceptor secretory pathway, its absence prevents the assembly of axonemal and disc components. Herein, we suggest a model for INPP5E-Leber congenital amaurosis, proposing how deletion of INPP5E may interrupt axoneme extension and disc membrane elaboration.
Topics & Concepts
MorphogenesisCell biologyAxonemeRetinaBiologyPhosphataseAnatomyGeneticsPhosphorylationNeuroscienceGeneFlagellumRetinal Development and DisordersGenetic and Kidney Cyst DiseasesMicrotubule and mitosis dynamics