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Steven Bassnett, Alicia De Maria, Yanrong Shi, Robert Mecham; Role of ltbp2 in eye development. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):4009.
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© ARVO (1962-2015); The Authors (2016-present)
Latent transforming growth factor beta binding protein 2 (ltbp2) is a member of the fibrillin/ltbp superfamily. In humans, mutations in LTBP2 are known to underlie autosomal recessive Weill-Marchesani syndrome, a condition characterized by ectopia lentis and microspherophakia.
To better understand the role of ltbp2 in eye development, its expression in the developing mouse eye was visualized by in situ hybridization and immunofluorescence. Ltbp2-null mice were generated by homologous recombination and their ocular phenotype assessed by confocal microscopy.
In situ hybridization and immunofluorescence analysis suggested that, in mice, ltbp2 was not expressed until the end of the first postnatal week, when transcripts were first observed in the non-pigmented ciliary epithelium (NPCE). Microfibrils containing ltbp2 were detected on the surface of the NPCE and subsequently incorporated into the developing ciliary zonule. In ltbp2-null mice the ciliary zonule appeared to form normally but disintegrated at later time points leading to ectopia lentis. Lenses from ltbp2-null mice were transparent but slightly smaller than those from age-matched littermates.
Ltbp2 is a component of the postnatal ciliary zonule where it appears to contribute to long-term zonule stability. Lens growth defects and progressive lens detachment in ltbp2-null mice are reminiscent of the ocular phenotype of patients with autosomal recessive Weill-Marchesani syndrome. Ltbp2-/- mice may thus represent a useful model to study the ocular complications associated with this condition.
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