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Single-nucleotide polymorphisms in HORMAD1 may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients
https://doi.org/10.24517/00053645
https://doi.org/10.24517/00053645ef2754df-f78d-4e0f-be82-b4861307504e
| 名前 / ファイル | ライセンス | アクション |
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ME-PR-NAMIKI-M-580.pdf (158.6 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||
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| 公開日 | 2019-03-08 | |||||||||
| タイトル | ||||||||||
| タイトル | Single-nucleotide polymorphisms in HORMAD1 may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients | |||||||||
| 言語 | ||||||||||
| 言語 | eng | |||||||||
| 資源タイプ | ||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||
| 資源タイプ | journal article | |||||||||
| ID登録 | ||||||||||
| ID登録 | 10.24517/00053645 | |||||||||
| ID登録タイプ | JaLC | |||||||||
| 著者 |
Miyamoto, Toshinobu
× Miyamoto, Toshinobu× Tsujimura, Akira× Miyagawa, Yasushi× Koh, Eitetsu× Namiki, Mikio× Horikawa, Michiharu× Saijo, Yasuaki× Sengoku, Kazuo |
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| 著者別表示 |
高, 栄哲
× 高, 栄哲
× 並木, 幹夫
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| 提供者所属 | ||||||||||
| 内容記述タイプ | Other | |||||||||
| 内容記述 | 金沢大学医薬保健研究域医学系 | |||||||||
| 書誌情報 |
Asian Journal of Andrology 巻 14, 号 4, p. 580-583, 発行日 2012 |
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| ISSN | ||||||||||
| 収録物識別子タイプ | ISSN | |||||||||
| 収録物識別子 | 1008-682X | |||||||||
| NCID | ||||||||||
| 収録物識別子タイプ | NCID | |||||||||
| 収録物識別子 | AA11693946 | |||||||||
| DOI | ||||||||||
| 関連タイプ | isIdenticalTo | |||||||||
| 識別子タイプ | DOI | |||||||||
| 関連識別子 | 10.1038/aja.2011.180 | |||||||||
| 出版者 | ||||||||||
| 出版者 | Asian Society of Andrology / Medknow Publications | |||||||||
| 抄録 | ||||||||||
| 内容記述タイプ | Abstract | |||||||||
| 内容記述 | Genetic mechanisms are implicated as a cause of some male infertility, yet are poorly understood. Meiosis is unique to germ cells and essential for reproduction. The synaptonemal complex is a critical component for chromosome pairing, segregation and recombination. Hormad1 is essential for mammalian gametogenesis as knockout male mice are infertile. Hormad1-deficient testes exhibit meiotic arrest in the early pachytene stage and synaptonemal complexes cannot be visualized. To analyze the hypothesis that the human HORMAD1 gene defects are associated with human azoospermia caused by meiotic arrest, mutational analysis was performed in all coding regions by direct sequence analysis of 30 Japanese men diagnosed with azoospermia resulting from meiotic arrest. By the sequence analysis, three polymorphism sites, Single Nucleotide Polymorphism 1 (c. 163A>G), SNP2 (c. 501T>G) and SNP3 (c. 918C>T), were found in exons 3, 8 and 10. The 30 patients with azoospermia and 80 normal pregnancy-proven, fertile men were analyzed for HORMAD1 polymorphisms. Both SNP1 and SNP2 were associated with human azoospermia caused by complete early meiotic arrest (P<0.05). We suggest that the HORMAD1 has an essential meiotic function in human spermatogenesis. © 2012 AJA, SIMM & SJTU. All rights reserved. | |||||||||
| 権利 | ||||||||||
| 権利情報 | Copyright © AJA, SIMM & SJTU | |||||||||
| 著者版フラグ | ||||||||||
| 出版タイプ | VoR | |||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||
