1. A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle
- Author
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Kazuyuki Uchida, Maryam Khalaj, Tetsuo Kunieda, Abdol Rahim Abbasi, Muki Tanahara, Yoshikazu Sugimoto, and Takehito Tsuji
- Subjects
genetic structures ,Hereditary disease ,Genes, Recessive ,Locus (genetics) ,Biology ,Microphthalmia ,Frameshift mutation ,Lens, Crystalline ,medicine ,Genetics ,Animals ,Microphthalmos ,Tissue Distribution ,Eye Abnormalities ,Frameshift Mutation ,Gene ,WFDC1 ,Eye development ,Haplotype ,Retinal Detachment ,Chromosome Mapping ,medicine.disease ,Chromosomes, Mammalian ,eye diseases ,Hyaloid artery ,medicine.anatomical_structure ,Haplotypes ,Mapping ,Codon, Nonsense ,WFDC1 Gene ,Mutation ,Mutant Proteins ,Cattle ,sense organs - Abstract
Multiple ocular defects (MOD) in cattle is an autosomal recessive hereditary disorder characterized by dysplasia of the lens, retinal detachment, persistence of the hyaloid artery, and microphthalmia. The locus responsible for MOD has been mapped to the proximal region of bovine chromosome 18. In the present study, we refined the localization of the MOD locus to a 1.0-Mb interval by haplotype analysis using a pedigree of affected animals. Comparison of nucleotide sequence of genes in this region revealed a one-nucleotide insertion in the WFDC1 gene, which resulted in a frame shift mutation and premature termination codon at the middle of the protein. WFDC1 is a small secretory protein containing a WAP-type four disulfide core domain. Specific expression of Wfdc1 was observed in the lens, retina, and optic nerves of embryonic and adult mouse eyes by immunohistochemical staining and in situ hybridization. The present finding demonstrated the essential role of WFDC1 in mammalian eye development.
- Published
- 2009
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