| Project/Area Number |
11694263
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Experimental pathology
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| Research Institution | KYOTO UNIVERSITY |
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Principal Investigator |
HIAI Hiroshi Graduate School of Medicine, Kyoto University, Professor, 医学研究科, 教授 (10073131)
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| Project Period (FY) |
1999 – 2000
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| Project Status |
Completed (Fiscal Year 2000)
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| Budget Amount *help |
¥2,900,000 (Direct Cost: ¥2,900,000)
Fiscal Year 2000: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 1999: ¥1,500,000 (Direct Cost: ¥1,500,000)
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| Keywords | Anophthalmos Rat / Eye formation / Mode of inheritance / Suppressive modifier / Mutation |
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| Research Abstract |
ANOPH is a novel model of hereditary anophthalmos first discovered in India by Dr.Harinarayana Rao, in the CFY rat. Selective inbreeding of CFY rats with mutant phenotype for 20 generation resulted in 100% incidence of anophthalmia either one or two sides of eyeball. In a collaborative work, we attempted to determine the mode of inheritance and map position of the mutant gene. We selected F344 rats as normal control. First report by Dr. Rao claimed the mutation was autosomal recessive, but (ANOPH x F344) F1 rats developed the mutant phenotype at 13.5% incidence. We analyzed 128 backcross rat to ANOPH with 82 microsatellite loci polymorphic between F344 and ANOPH.From the mode of observed inheritance, one could assume that the ANOPH mutant phenotype is inherited by an dominant trait, and other strains of rats have dominant suppressive modifier gene that blocks the development of the phenotype. In a preliminary genome-wide screening, we could map the resistant modifier loci linked to D10Mit9 on chromosome 10. Mapping of the mutation responsible locus required further fine analysis.
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