April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
LCA3, A Novel Early Onset Retinal Disease Gene, Functions in Protein Transport Vesicles
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
Author Affiliations & Notes
  • H. Wang
    Human Genome Sequencing Center,
    Baylor College of Medicine, Houston, Texas
  • H. Xin
    Human Genome Sequencing Center,
    Baylor College of Medicine, Houston, Texas
  • A. I. den Hollander
    Department of Human Genetics;Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Y. Moayedi
    Neuroscience,
    Baylor College of Medicine, Houston, Texas
  • A. Abulimiti
    Human Genome Sequencing Center,
    Baylor College of Medicine, Houston, Texas
  • R. A. Lewis
    Molecular and Human Genetics,
    Baylor College of Medicine, Houston, Texas
  • J. R. Lupski
    Molecular and Human Genetics,
    Baylor College of Medicine, Houston, Texas
  • G. Mardon
    Molecular and Human Genetics,
    Baylor College of Medicine, Houston, Texas
  • R. K. Koenekoop
    McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada
  • R. Chen
    Human Genome Sequencing Center,
    Baylor College of Medicine, Houston, Texas
  • Footnotes
    Commercial Relationships  H. Wang, None; H. Xin, None; A.I. den Hollander, None; Y. Moayedi, None; A. Abulimiti, None; R.A. Lewis, None; J.R. Lupski, None; G. Mardon, None; R.K. Koenekoop, None; R. Chen, None.
  • Footnotes
    Support  R01EY018571
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 1650. doi:
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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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Abstract

Purpose: : To identify novel gene of Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP).

Methods: : 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.

Results: : 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.

Keywords: retina • visual impairment: neuro-ophthalmological disease 
© 2009, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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