2007 Fiscal Year Final Research Report Summary
Molecular cloning and functional analysis of gene responsible for multiple ocular defect of cattle
| 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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| Keywords | cattle / eve abnormality / developmental anomaly / DNA diagnosis / hereditary disease |
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| 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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[Journal Article] Linkage mapping of the locus responsible for forelimb-girdle muscular anomaly of Japanese Black cattle on bovine chromosome2008
Author(s)
Masoudi, A.A., Uchida, K., Yokouchi, K., Ohwada, K., Abbasi, A.R., Tsuji, T., Watanabe, T., Hirano, T., Sugimoto, Y., Kunieda, T
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Journal Title
Anim Genet 39
Pages: 46-50
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Marker-assisted selection for forelimb-girdle muscular anomaly of Japanese Black cattle2007
Author(s)
Masoudi, A.A., Uchida, K., Yokouchi, K., Miyadera, K., Ogawa, H., Sugimoto, Y., Kunieda, T
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Journal Title
Anim Sci 78
Pages: 672-675
Description
「研究成果報告書概要(欧文)」より
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[Presentation] A mutation causing abnormal splicing of Tmem48/Ndcl gene is responsible for impaired gametogenesis in sks mutant mouse2007
Author(s)
Kouyou, Akiyama, Junko, Noguchi, Mai, Kanaeda, Takehito, Tsuji, Tetsuo, Kunieda
Organizer
Society for the study of reproduction 40th Annual Meeting
Place of Presentation
San Antonio, USA
Year and Date
20070721-25
Description
「研究成果報告書概要(欧文)」より
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[Book] 動物応用遺伝学2007
Author(s)
東條英昭, 佐々木義之, 国枝哲夫
Total Pages
232
Publisher
朝倉書店
Description
「研究成果報告書概要(和文)」より
