2013 Fiscal Year Final Research Report
Investigation of a regulatory mechanism underlying androgen production in the fetal testis
| Project/Area Number |
24790303
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
General medical chemistry
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
MIYADO Mami 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (00386252)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 男性ホルモン産生 |
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| Research Abstract |
MAMLD1 (Mastermind-like domain containing 1) has been identified as a gene responsible for with hypospadias in humans. The Mamld1 mRNA expression was gradually and steadily increased from 12.5 to 18.5 day post coitum in the fetal testis of wild-type male mice. To study the role of MAMLD1 in mice, we produced Mamld1 knockout mice. Mamld1 knockout male mice showed mildly but significantly reduced fetal testicular mRNA levels of genes exclusively expressed in Leydig cells (Star, Cyp11a1, Cyp17a1, and Hsd3b1). These results provide the evidence that MAMLD1 plays a role in androgen production, indicating the presence of a mechanism shared between mouse and human. Further studies will explore the MAMLD1-dependent molecular network in the steroid hormone production and the pathological condition of MAMLD1-mutated patients.
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Research Products
(14 results)
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[Journal Article] De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency2014
Author(s)
Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, and Fukami M
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Journal Title
Horm Res Paediatr
Volume: 81 (2)
Pages: 139-144
DOI
Peer Reviewed
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[Journal Article] Individual variation of the genetic response to bisphenol a in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients2012
Author(s)
Qin XY, Sone H, Kojima Y, Mizuno K, Ueoka K, Muroya K, Miyado M, Hisada A, Zaha H, Fukuda T, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Fukami M and Ogata T
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Journal Title
PLoS One
Volume: 7 (12)
Pages: e52756
DOI
Peer Reviewed
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[Journal Article] CD81 and CD9 work independently as extracellular components upon fusion of sperm and oocyte2012
Author(s)
Ohnami N, Nakamura A, Miyado M, Sato M, Kawano N, Yoshida K, Harada Y, Takezawa Y, Kanai S, Ono C, Takahashi Y, Kimura K, Shida T, Miyado K and Umezawa A
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Journal Title
Biol Open
Volume: 1 (7)
Pages: 640-647
DOI
Peer Reviewed
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[Journal Article] Paternal uniparental disomy 14 and related disorders : placental gene expression analyses and histological examinations2012
Author(s)
Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M and Ogata T
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Journal Title
Epigenetics
Volume: 7 (10)
Pages: 1142-1150
DOI
Peer Reviewed
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[Journal Article] Identification of novel low - dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients2012
Author(s)
Qin XY, Kojima Y, Mizuno K, Ueoka K, Muroya K, Miyado M, Zaha H, Akanuma H, Zeng Q, Fukuda T, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Fukami M, Ogata T and Sone H
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Journal Title
PLoS One
Volume: 7 (5)
Pages: e36711
DOI
Peer Reviewed
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