A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle.
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.
Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan.
Abdol Rahim
AR
Abbasi
Maryam
M
Khalaj
Takehito
T
Tsuji
Muki
M
Tanahara
Kazuyuki
K
Uchida
Yoshikazu
Y
Sugimoto
Tetsuo
T
Kunieda
D000818:Animals; D002417:Cattle; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian; D018389:Codon, Nonsense; D005124:Eye Abnormalities / Q000235:genetics* / Q000662:veterinary; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006239:Haplotypes; D007908:Lens, Crystalline / Q000002:abnormalities; D008850:Microphthalmos; D050505:Mutant Proteins; D012163:Retinal Detachment; D014018:Tissue Distribution
D018389:Codon, Nonsense; D050505:Mutant Proteins