| Project/Area Number |
07671109
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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 |
内分泌・代謝学
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| Research Institution | University of Tokyo |
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Principal Investigator |
FUKUMOTO Seiji University of Tokyo, 4th Dept of Internal Med, Assistant Professor, 医学部・附属病院(分), 助手 (30202287)
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| Co-Investigator(Kenkyū-buntansha) |
TAKEUCHI Yasuhiro University of Tokyo, 4th Dept of Internal Med, Assistant Professor, 医学部・附属病院(分), 助手 (50202164)
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| Project Period (FY) |
1995 – 1996
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| Project Status |
Completed (Fiscal Year 1996)
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| Budget Amount *help |
¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 1996: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1995: ¥1,500,000 (Direct Cost: ¥1,500,000)
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| Keywords | Pseudohypoparathyroidism / PTH receptor / Molecular biology |
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| Research Abstract |
Pseudohypoparathyroidism (PHP) is a group of diseases characterized by resistance to parathyroid hormone (PTH) and PHP1b has been thought to be caused by abnormal PTH receptor. In order to clarify the pathogenesis of PHP1b, PTH receptor in skin fibroblasts from patients with PHP1b was analyzed by reverse-transcription coupled polymerase chain reaction (RT-PCR), Northern blot analysis and direct sequencing of the PCR products. Although no mutation was found in cDNA for PTH receptor in patients with PHP1b, the expression level of PTH receptor in skin fibroblasts from patients with PHP1b was lower than that from normal control. Therefore, to clarify the mechanism of the reduced expression of PTH receptor in patients with PHP1b, we next cloned the 5' end of human PTH receptor gene. We found that there are at least two promoters and three untranslated exons in the 5' end of human PTH receptor gene, and these promoters and exons are used in a tissue-specific manner. However, the DNA sequences in these promoter regions and untranslated exons from patients with PHP1b are not different from those of normal control. Therefore, it seems necessary to analyze the nuclear proteins that interact with the promoter region of human PTH receptor to elucidate the pathogenesis of PHP1b.
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