2009 Fiscal Year Final Research Report
Novel sex development gene CXorf6 : determination of clinical spectrum in mutation positive patients and clarification of underlying factors
| Project/Area Number |
19390290
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
OGATA Tsutomu National Research Institute for Child Health and Development, 小児思春期発育研究部, 部長 (40169173)
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| Co-Investigator(Kenkyū-buntansha) |
FUKAMI Maki 国立成育医療センター(研究所), 小児思春期発育研究部, 室長 (40265872)
WADA Yuka 国立成育医療センター(研究所), 小児思春期発育研究部, 共同研究員 (80399485)
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| Project Period (FY) |
2007 – 2009
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| Keywords | 性分化 / 遺伝子変異 / 遺伝子機能 / 臨床像 / ノックアウトマウス |
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| Research Abstract |
We have obtained the following findings during the research period : (1) Functional studies revealed that CXorf6 has a transactivation function for the canonical Notch target HES3, and is regulated bySF-1 that functions as a master gene for sex development ; (2) Knockdown experiments showed that CXorf6 has a regulatory function for the testicular steroidogenic enzymes ; (3) Mutation analysis identified further CXorf6 mutations in patients with hypospadias ; and (4) Knockout mouse experiments indicated that CXorf6 is involved in metabolic syndrome.
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[Journal Article] Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.2009
Author(s)
Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T
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Journal Title
Journal of Clinical Endocrinology & Metabolism 94(5)
Pages: 1723-1731
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[Journal Article] Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia or acampomelic campomelic dysplasia.2009
Author(s)
Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T
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Journal Title
American Journal of Medical Genetics A 149A(12)
Pages: 2882-2885
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[Journal Article] Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.2008
Author(s)
Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T
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Journal Title
Journal of Biological Chemistry 283(9)
Pages: 5525-5532
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[Presentation] MAMLD1 Homozygous gain-of-function missense mutation causing 46, XX disorder of sex development in a virilized female.2009
Author(s)
Brandao MP, Costa EMF, Fukami M, Santos MG, Pereira NP, Domenice S, Ogata T, Mendonca BB
Organizer
The 8th Joint meeting, ESPE-LWPES in association with APEG, APPES, SLEP, JSPE
Place of Presentation
New York
Year and Date
20090000
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[Presentation] A gain of function mutation in the MAMLD1 discloses a new pathway in the etiology of 46, XY disorders of sex development.2009
Author(s)
Brandao MP, Fukami Mendonca BB, Santos MG, Domenice S, Arnold IJP, Ogata T, Costa EMF
Organizer
The 8th Joint meeting, ESPE-LWPES in association with APEG, APPES, SLEP, JSPE
Place of Presentation
New York
Year and Date
20090000
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