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Deficiency of the RNA binding protein caprin2 causes lens defects and features of peters anomaly
Author(s) -
Dash Soma,
Dang Christine A.,
Beebe David C.,
Lachke Salil A.
Publication year - 2015
Publication title -
developmental dynamics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.634
H-Index - 141
eISSN - 1097-0177
pISSN - 1058-8388
DOI - 10.1002/dvdy.24303
Subject(s) - biology , microbiology and biotechnology , immunostaining , in situ hybridization , lens (geology) , mutant , lens fiber , conditional gene knockout , genetics , gene expression , gene , phenotype , nucleus , immunohistochemistry , immunology , paleontology
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. Developmental Dynamics 244:1313–1327, 2015 . © 2015 Wiley Periodicals, Inc.