Analysis of genes related to human azoospermia using a reverse genetics method
| Project/Area Number |
26462469
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
SENGOKU Kazuo 旭川医科大学, 医学部, 教授 (30163124)
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| Co-Investigator(Kenkyū-buntansha) |
宮本 敏伸 旭川医科大学, 医学部, 講師 (70360998)
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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 |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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| Keywords | 無精子症 / 遺伝子 / セルトリセルオンリー / 精子形成 / 減数分裂異常 / 男性不妊 / ETV5 / RAD21L / Sin 3A / Plk4 |
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| Outline of Final Research Achievements |
We investigated whether the human ETV5, SIN3A and PLK4 genes are associated with azoospermia by Sertoli cell-only syndrome (SCOS) using mutational analysis in Japanese patients with azoospermia. We found that the two ETV5 variants, SNP2 and SNP3 were associated with susceptibility to SCOS. Mutational analysis of 81 SCOS patients identified one man with a heterozygous 13-bp deletion in the Ser/The kinase domain of PLK4. Division of centrioles occurred in wild type PLK4 transfected cells, but was hampered in PLK4 mutant transfectants which also showed abnormal nuclei. Therefore, we concluded that this PLK4 mutation might be a cause of human SCOS.
We also detected three polymorphism sites, SNP1, SNP2 and SNP3 in RAD21L gene. Genotype and allele frequencies of SNP2 and SNP3 were higher in the patients with azoospermia by both meiotic arrest and SCOS compared with the control group. These results suggest that ETV5, PLK4 and RAD21L might play critical roles in human spermatogenesis.
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Report
(4 results)
Research Products
(6 results)
