Deficiency of the RNA Binding Protein Caprin2 Causes Lens Defects and Features of Peters Anomaly

Overview

Journal Dev Dyn

Publisher Wiley

Specialty Anatomy & Histology

Date 2015 Jul 17

PMID 26177727

Citations 35

Authors

Soma Dash

Christine A Dang

David C Beebe

Salil A Lachke

Affiliations

Soon will be listed here.

Abstract

Background: It was recently demonstrated that deficiency of a conserved RNA binding protein (RBP) and RNA granule (RG) component Tdrd7 causes ocular defects including cataracts in human, mouse and chicken, indicating the importance of posttranscriptional regulation in eye development. Here we investigated the function of a second conserved RBP/RG component Caprin2 that is identified by the eye gene discovery tool iSyTE.

Results: In situ hybridization, Western blotting and immunostaining confirmed highly enriched expression of Caprin2 mRNA and protein in mouse embryonic and postnatal lens. To gain insight into its function, lens-specific Caprin2 conditional knockout (cKO) mouse mutants were generated using a lens-Cre deleter line Pax6GFPCre. Phenotypic analysis of Caprin2(cKO/cKO) mutants revealed distinct eye defects at variable penetrance. Wheat germ agglutinin staining and scanning electron microscopy demonstrated that Caprin2(cKO/cKO) mutants have an abnormally compact lens nucleus, which is the core of the lens comprised of centrally located terminally differentiated fiber cells. Additionally, Caprin2(cKO/cKO) mutants also exhibited at 8% penetrance a developmental defect that resembles a human condition called Peters anomaly, wherein the lens and the cornea remain attached by a persistent stalk.

Conclusions: These data suggest that a conserved RBP Caprin2 functions in distinct morphological events in mammalian eye development.

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