| Project/Area Number |
26293224
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Endocrinology
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Fukami Maki 国立研究開発法人国立成育医療研究センター, その他部局等, その他 (40265872)
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| Co-Investigator(Kenkyū-buntansha) |
小島 祥敬 福島県立医科大学, 医学部, 教授 (60305539)
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| Research Collaborator |
IGARASHI Maki 国立成育医療研究センター, 分子内分泌研究部, 研究員 (10623035)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥16,640,000 (Direct Cost: ¥12,800,000、Indirect Cost: ¥3,840,000)
Fiscal Year 2016: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2015: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Fiscal Year 2014: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
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| Keywords | 遺伝子 / 内分泌 / 疾患 / 性分化 / ゲノム / 生殖 / 内分泌学 / 生殖内分泌 |
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| Outline of Final Research Achievements |
The aim of this study was to clarify novel causes of pubertal disorders and disorders of sex development (DSD), through systematic molecular analyzes of clinical samples. To this end, we employed various molecular technologies including next-generation sequencing (NGS), array-based comparative genomic hybridization (array CGH), microsatellite analysis, and pyrosequencing.
The results of this study include the following. (i) We clarified the contribution of each known causative gene to the etiology of gonadotropin deficiency and non-syndromic hypospadias. (ii) We determined the role of the backdoor pathway in the androgen production of eumenorrheic women. (iii) We identified a novel missence substitution of NR5A1 that induces testicular development in genetic females. (iv) We identified a protein truncating mutation of NR0B1 that underlies precocious puberty.
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