PUBLICATION

The role of crumbs genes in the vertebrate cornea

Authors
Beyer, J., Zhao, X.C., Yee, R., Khaliq, S., McMahon, T.T., Ying, H., Yue, B.Y., and Malicki, J.J.
ID
ZDB-PUB-100910-13
Date
2010
Source
Investigative ophthalmology & visual science   51(9): 4549-4556 (Journal)
Registered Authors
Malicki, Jarema, Zhao, Xinping
Keywords
none
MeSH Terms
  • Zebrafish
  • Eye Proteins/genetics*
  • Eye Proteins/metabolism
  • Severity of Illness Index
  • Vertebrates
  • Polymerase Chain Reaction
  • Humans
  • Animals
  • Male
  • Female
  • Pedigree
  • Gene Expression Regulation, Developmental*
  • Epithelial Cells/pathology
  • Epithelial Cells/physiology
  • Epithelial Cells/ultrastructure
  • Immunohistochemistry
  • Nerve Tissue Proteins/genetics*
  • Nerve Tissue Proteins/metabolism
  • Membrane Proteins/genetics*
  • Membrane Proteins/metabolism
  • Microscopy, Electron
  • Stromal Cells/pathology
  • Stromal Cells/physiology
  • Stromal Cells/ultrastructure
  • Heterozygote
  • Epithelium, Corneal/abnormalities*
  • Epithelium, Corneal/pathology
  • Epithelium, Corneal/physiology*
  • Zebrafish Proteins/genetics*
  • Zebrafish Proteins/metabolism
  • Cell Polarity/physiology
(all 31)
PubMed
20805571 Full text @ Invest. Ophthalmol. Vis. Sci.
Abstract
PURPOSE: To evaluate the role of crumbs genes and related epithelial polarity loci in the vertebrate cornea. METHODS: The authors used histologic analysis and electron microscopy to evaluate the corneas of zebrafish mutant for a crumbs locus oko meduzy (ome) and in mutants of four other loci, nagie oko (nok), heart and soul (has), mosaic eyes (moe), and ncad (formerly glass onion), that function in the same or related genetic pathways. In parallel, they performed an evaluation of corneas in human carriers of a crumbs gene, CRB1, and mutations using topography and biomicroscopy. The expression of the CRB1 gene in the normal human cornea was examined by polymerase chain reaction (PCR) and immunohistochemical staining. RESULTS: The corneas of zebrafish mutants display severe abnormalities of the epithelial and stromal layers. The epithelial cells do not properly adhere to each other, and fluid-filled spaces form between them. In addition, the layering of the corneal stroma is poorly formed or absent. The corneas of human carriers of CRB1 mutations display shape deviations compared with what has been observed in normal individuals. A PCR product of the correct size was obtained from normal human corneal samples. Sequence analyses confirmed its identity to be the human CRB1 gene. Immunohistochemical staining using anti-CRB1 yielded positive brown deposits in the human cornea. CONCLUSIONS: crumbs genes play a role in the differentiation of the vertebrate cornea. Corneal defects associated with crumbs gene mutations are very severe in the zebrafish model and, in comparison, appear clinically less pronounced in the human eye.
Genes / Markers
Figures
No images available
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Expression
Phenotype
Fish Conditions Stage Phenotype Figure
cdh2m117/m117standard conditionsProtruding-mouth
cdh2m117/m117standard conditionsProtruding-mouth
cdh2m117/m117standard conditionsProtruding-mouth
cdh2m117/m117standard conditionsProtruding-mouth
cdh2m117/m117standard conditionsProtruding-mouth
cdh2m117/m117standard conditionsProtruding-mouth
cdh2m117/m117standard conditionsProtruding-mouth
cdh2m117/m117standard conditionsProtruding-mouth
cdh2m117/m117standard conditionsProtruding-mouth
crb2am289/m289standard conditionsProtruding-mouth
1 - 10 of 35
Show
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
b781
    		Point Mutation
    m117
      		Point Mutation
      m227
        		Point Mutation
        m289
          		Point Mutation
          m520
            		Point Mutation
            m567
              		Point Mutation
              1 - 6 of 6
              Show
              Human Disease / Model
              No data available
              Sequence Targeting Reagents
              No data available
              Fish
              Fish
              cdh2m117/m117
              crb2am289/m289
              epb41l5b781/b781
              pals1am227/m227
              pals1am520/m520
              prkcim567/m567
              1 - 6 of 6
              Show
              Antibodies
              No data available
              Orthology
              Engineered Foreign Genes
              No data available
              Mapping
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              Citation
              Beyer, J., Zhao, X.C., Yee, R., Khaliq, S., McMahon, T.T., Ying, H., Yue, B.Y., and Malicki, J.J. (2010) The role of crumbs genes in the vertebrate cornea. Investigative ophthalmology & visual science. 51(9):4549-4556.