| The loss of vacuolar protein sorting 11 (vps11) causes retinal pathogenesis in a vertebrate model of syndromic albinism. | |
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MedLine Citation:
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PMID: 21622697 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Purpose: To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS). Methods: Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single nucleotide insertion in the vps11 (vacuolar protein sorting 11) gene. Expression of vps11 was determined by RT-PCR and in situ hybridization. Mutants were analyzed for pigmentation defects and retinal pathology by histology, immunohistochemistry, and transmission electron microscopy. Results: Phenocopy and rescue experiments determined that a loss of Vps11 results in the platinum phenotype. Expression of vps11 appeared ubiquitous during zebrafish development, with stronger expression in the developing retina and retinal pigmented epithelium (RPE). Zebrafish platinum mutants exhibited reduced pigmentation in the body and retinal pigmented epithelium (RPE), however, melanophore development, migration, and dispersion occurred normally. RPE, photoreceptors, and inner retinal neurons formed normally in zebrafish platinum mutants. However, a gradual loss of RPE, an absence of mature melanosomes and the subsequent degradation of RPE/photoreceptor interdigitation was observed. Conclusions: These data show that Vps11 is not required for normal retinal development or initiation of melanin biosynthesis, but is required for melanosome maturation and healthy maintenance of the RPE and photoreceptors. |
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Authors:
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Jennifer L Thomas; Thomas S Vihtelic; Aaron D Dendekker; Gregory Willer; Xixia Luo; Taylor R Murphy; Ronald G Gregg; David R Hyde; Ryan Thummel |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-5-27 |
Journal Detail:
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Title: Investigative ophthalmology & visual science Volume: - ISSN: 1552-5783 ISO Abbreviation: - Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-5-30 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7703701 Medline TA: Invest Ophthalmol Vis Sci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Anatomy and Cell Biology and Department of Ophthalmology, Wayne State University School of Medicine, Detroit, MI, 48201, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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