Journal
GENOMICS
Volume 94, Issue 1, Pages 55-62Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2009.04.001
Keywords
WFDC1; Cattle; Hereditary disease; Mapping; Mutation; Eye development
Funding
- Ministry of Agriculture, Forestry, and Fisheries of Japan
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Livestock Improvement Association of Japan, Inc
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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 microphthahmia, 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 immunohitochemical staining and in situ hybridization. The present finding demonstrated the essential role of WFDC1 in mammalian eye development. (C) 2009 Elsevier Inc. All rights reserved.
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