1998 Fiscal Year Final Research Report Summary
Cloning of retina-specific cDNAs and functional analysis
| Project/Area Number |
09470384
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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 |
Ophthalmology
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| Research Institution | Keio University |
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Principal Investigator |
MASHIMA Yukihiko Keio University, Medicine, associated professor, 医学部, 助教授 (40157186)
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| Co-Investigator(Kenkyū-buntansha) |
IMAMURA Yutaka Keio University, Medicine, Instructor, 医学部, 助手 (20276215)
KUBOTA Ryo Keio University, Medicine, Instructor, 医学部, 助手 (00276338)
OHTAKE Yuichirou Keio University, Medicine, Instructor, 医学部, 助手 (30233159)
ASAKAWA Shuichi Keio University, Medicine, Instructor, 医学部, 助手 (30231872)
KUDHO Jun Keio University, Medicine, assistant professor, 医学部, 講師 (80178003)
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| Project Period (FY) |
1997 – 1998
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| Keywords | retina / gene cloning / myocilin / amine oxidase / glaucoma / mutation / ISLR |
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| Research Abstract |
We cloned several novel genes from retina-enriched cDNA library by the combined methods of subtractive and differential hybridization. After chromosomal mapping of these candidate genes by FISH method, we selected three novel genes according to the information of chromosomal mapping of eye diseases and analyzed them.
1. Myocilin (MYOC) has homology to myosin and olfactomedin of bullfrog and is located in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cell. It was realized that myocilin was identical to the independently reported protein TIGR which is responsible for pathogenesis of primary open angle glaucoma. Myocilin was expressed in the trabecular meshwork cells. We identified 3 mutations in the MYOC gene in about 100 Japanese glaucoma patients. We also isolated the mouse homologue of myocilin.
2. Immunoglobulin superfamily containing leucine-rich repeat (ISLR) is considered to be a new member of the Ig superfamily whose domains are important for protein-protein interaction or cell adhesion. Northern blot analysis showed the presence of a 2.4 kb transcript in various tissues except brain. The ISLR was mapped to chromosome I 5q23-q24.
3. Retina-specific amine oxidase (RAO) contained a conserved domain of copper amine oxidase and was mapped to chromosome 17q21. RAO was expressed in the ganglion cell layers of the retina and may be associated with the synthesis of GABA.We also isolated the mouse homologue of RAO.
4. One of the novel candidate genes we have isolated was mapped to chromosome 2. A large family with glaucoma is reported to mapped to this region. We are analyzing the novel clone.
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[Publications] Kubota R,Noda S,Wang Y,Minoshima S,Asakawa S,Kudoh J,Mashima Y,Oguchi Y,Shimizu N.: "A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor : Molecular cloning, tissue expression, and chromosomal mapping." Genomics. 41. 360-369 (1997)
Description
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