Clarification of molecular basis of pubertal disorders and disorders of sex development
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 |
Section | 一般 |
Research Field |
Endocrinology
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Research Institution | National Center for Child Health and Development |
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)
|
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)
|
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 |
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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Report
(4 results)
Research Products
(32 results)
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[Journal Article] Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome2016
Author(s)
Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, Fukami M
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Journal Title
J Steroid Biochem Mol Biol
Volume: 158
Pages: 31-37
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation2015
Author(s)
Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y
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Journal Title
Horm Res Pediatr
Volume: 84
Pages: 212-216
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Testicular Dysgenesis/Regression without Campomelic Dysplasia in Patients Carrying Missense Mutations and Upstream Deletion of SOX92015
Author(s)
Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M
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Journal Title
Mol Genet Genom Med
Volume: 3
Pages: 550-557
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Molecular basis of non-syndromic hypospadias: Systematic mutation screening and genome-wide copy-number analysis of 62 patients.2015
Author(s)
Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M
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Journal Title
Hum Reprod
Volume: 未定
Pages: 未定
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Copy-Number Variations in Y Chromosomal Azoospermia Factor Regions Identified by Multiplex Ligation-Dependent Probe Amplification2015
Author(s)
Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M.
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Journal Title
J Hum Genet
Volume: 60
Pages: 127-131
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias2015
Author(s)
Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M
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Journal Title
Sex Dev
Volume: 未定
Pages: 未定
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.2014
Author(s)
Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M
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Journal Title
Fertil Steril
Volume: 102
Pages: 1130-1136
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a (AZFa) Region in a Male with Mild Asthenozoospermia.2014
Author(s)
Katsumi M, Ishikawa H, Tanaka Y, Saito K, Kobori Y, Okada H, Saito H, Nakabayashi K, Matsubara Y, Ogata T, Fukami M, Miyado M
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Journal Title
Cytogenet Genome Res
Volume: 144
Pages: 285-289
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Presentation] Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.2016
Author(s)
Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Tajima T, Sekido R, Ogata T, Kashimada K, Fukami M.
Organizer
The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
Place of Presentation
東京
Year and Date
2016-11-18
Related Report
Int'l Joint Research
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[Presentation] 性分化疾患2015
Author(s)
深見真紀
Organizer
第49回日本小児内分泌学会学術集会
Place of Presentation
東京
Year and Date
2015-10-09
Related Report
Invited
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