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H. Wang, H. Xin, A. I. den Hollander, Y. Moayedi, A. Abulimiti, R. A. Lewis, J. R. Lupski, G. Mardon, R. K. Koenekoop, R. Chen; LCA3, A Novel Early Onset Retinal Disease Gene, Functions in Protein Transport Vesicles. Invest. Ophthalmol. Vis. Sci. 2009;50(13):1650.
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© ARVO (1962-2015); The Authors (2016-present)
To identify novel gene of Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP).
A combination of homozygous mapping and direct Sanger sequencing were used to identify the mutation on the candidate gene. mRNA in situ hybridization (ISH) and immunohistochemistry (IHC) were used to examine the expression pattern of Lca3 in the mouse retina at several developmental stages. To shed light on the molecular and cellular function of LCA3, we screened for LCA3-interacting proteins with the retrovirus-based protein fragment complementation assay (RePCA) system.
A total of four mutant alleles of LCA3 gene were identified in five families with LCA or juvenile RP from distinct populations. We found that LCA3 gene is expressed in multiple retinal layers in the mature mouse retina. Furthermore, we then identified that SEC13, an essential component of an intra-cellular protein vesicle coat complex (COPII), is an interacting partner of LCA3.
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