2003 Fiscal Year Final Research Report Summary
Molecular biology and Electrophysiology of Retinitis Pigmentosa
| Project/Area Number |
14571680
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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 |
Ophthalmology
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| Research Institution | (Miyazaki Medical College) University of Miyazaki |
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Principal Investigator |
NAOI Nobuhisa Miyazaki Medical College, Professor, 医学部, 教授 (50211412)
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| Co-Investigator(Kenkyū-buntansha) |
TAKESHITA Tetsuji Miyazaki Medical College, Lecturer, 医学部, 講師 (60274700)
MORIYAMA Shigeto Miyazaki Medical College, Assistant, 医学部, 助手 (10274804)
CHUMAN Hideki Miyazaki Medical College, Associate Professor, 医学部, 助教授 (20244204)
HIRASHIMA Yuko Miyazaki Medical College, Assistant, 医学部, 助手 (90325754)
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| Project Period (FY) |
2002 – 2003
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| Keywords | Retinitis Pigmentosa / Genetic Analysis / X-linked / ERG / Electroretinogram |
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| Research Abstract |
Retinitis pigmentosa is a progressive degeneration of the retinal photoreceptors. X-linked retinitis pigmentosa (XLRP) is the most severe form of the disease. We identified a microdeletion in RPGR gene with X-linked retinitis pigmentosa in one Japanese family. The deletion spans exon 1 to exon 11. Patients had severe symptom with early onset and rapid deterioration. Exon 1-19, 15a and ORF15 of the RPGR gene was screened by PCR and direct sequence, however exon 1-11 of the DNA genome couldn't be amplified while other exons have normal sequence. Southern blot analysis revealed no exons 4, 8, 10 and 11 in RPGR. We amplified the fragments around the deletion, as a result, we ensure the deletion start-point is located in 79bp in front of exon 1, whereas end-point is 42bp downstream of exon 11. So the deletion spans 30204bp which comprehends the RCC1-like domain of RPGR gene. Our report is the first one which shows that the RPGR microdeletion spans RCC1-like domain in human, and that it strongly supports that the N-terminal sequence of RPGR is necessary for the function of RPGR in the human retina. Our research suggested that RCC1-like domain is the function essential to RPGR.
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Research Products
(10 results)
