| Project/Area Number |
18380167
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Applied animal science
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| Research Institution | Okayama University |
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Principal Investigator |
KUNIEDA Tetsuo Okayama University, Graduate School of Natural Science and Technology, Professor (80178011)
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| Co-Investigator(Kenkyū-buntansha) |
TSUJI Takehito OKAYAMA UNIVERSITY, Graduate School of Natural Science and Technology, Assistant Professor (90314682)
UCHIDA Kazuyuki Miyazaki University, Faculty of Agriculture, Assistant Professor (10223554)
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| Project Period (FY) |
2006 – 2007
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| Project Status |
Completed (Fiscal Year 2007)
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| Budget Amount *help |
¥17,030,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥1,530,000)
Fiscal Year 2007: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
Fiscal Year 2006: ¥10,400,000 (Direct Cost: ¥10,400,000)
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| Keywords | cattle / eve abnormality / developmental anomaly / DNA diagnosis / hereditary disease / 黒毛和種 / 和牛 / ゲノム / 眼球形成異常 / 突然変異 |
|---|
| Research 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 was mapped to the proximal region of bovine chromosome 18. We further refined the localization of the MOD locus to within a 1.1 Mb interval on bovine chromosome 18 by haplotype analysis and determined the nucleotide sequences of all genes in this region. A comparison of the nucleotide sequences of these genes between affected and normal animals revealed a one-nucleotide insertion in exon 2 of the WFDCl gene, which resulted in a frame shift mutation. WFDCl is a small secretory protein containing a WAP-type four disulfide core domain. Specific expression of Wfdcl was observed in the lens, retina, and optic nerves of embryonic and adult mouse eyes by immunohistochemical staining and in situ hybridization. Although the exact function of WFDCl in mammalian development remains unknown, the present findings showing that this mutation in WFDCl resulted in multiple eye defects and that the gene is specifically expressed in embryonic and adult eyes demonstrated the essential role of WFDCl in mammalian eye development. This is the first report providing direct evidence for the involvement of WFDCl in a particular process of mammalian development.
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