2006 Fiscal Year Final Research Report Summary
The functional analysis of !6q-linled autosomal dominant cerabeller ataxia associated gene.
| Project/Area Number |
17590866
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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 |
Neurology
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
TORU Shuta Tokyo Medical and Dental University, Neurology, Part-time Lecturer, 医学部, 非常勤講師 (50376711)
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| Co-Investigator(Kenkyū-buntansha) |
ISHIKAWA Kinya Tokyo Medical and Dental University, Neurology, Lecturer, 医学部附属病院, 講師 (30313240)
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| Project Period (FY) |
2005 – 2006
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| Keywords | Central nervous system disease / Neuroscience / Spinocerebeller ataxia |
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| Research Abstract |
A purpose of this study is to analyze it about an associated gene of prepotence to chain the 16th chromosome length arm-related cerebellum transsexualism. As for this disease, we performed identification of a cause gene seat, manufacture of physical map, limitation of a candidate domain till now. Furthermore, in a puratrophin-1 gene, chain reaction non-equilibrium found a high change. When we made an antibody for puratrophin-1 and analyzed it in a patient brain immunohistochemically, the protein cohered with cytoskeletal protein with a patient cerebellum Purkinje cell. It is a gene change or this is an only change peculiar to a patient, and it is a direct cause of the onset of this disease or it was related to extremely closely.
From a background such as the above, we inspected it whether this change was etiology. We used two-hybrid system method from a library and did cloning of cDNA of the protein which formed interaction or a complex to this protein to examine a characteristic of a product of a puratrophin-1 gene. We built puratrophin-1 and yeast transcription gene bait plasmid to include and introduced it into host yeast together when I tied the Homo sapiens fetus brain cDNA library which became an object of screening to a transcription activation domain of a yeast transcription factor and produced it. We did screening of the positive colony which we grew on a nutrient medium and collected plasmid DNA from a yeast cell to hold a positive clone in. Base sequence parses this by a direct sequence method and identifies protein, but a thing related to cytoskeletal protein does not become clear. We are examining including manufacture of a polyclonal antibody, in situ hybridization now. There may be a cause gene of this disease elsewhere and examines a candidate domain in detail and is contributing it about the result.
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[Journal Article] 16q-linked autosomal dominant cerebellar ataxia : a clinical and genetic study2006
Author(s)
Ouyang Y, Sakoe K, Shimazaki H, Namekawa M, Ogawa T, Ando Y, Kawakami T, Kaneko J, Hasegawa Y, Yoshizawa K, Amino T, Ishikawa K, et al.
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Journal Title
J Neurol Sci 247(2)
Pages: 180-186
Description
「研究成果報告書概要(和文)」より
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