Investigation of the mechanisms of spermatogenesis using a comprehensive analysis of genes related to human azoospermia
| Project/Area Number |
23592388
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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) |
MIYAMOTO Toshinobu 旭川医科大学, 医学部, 講師 (70360998)
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2011: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
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| Keywords | 無精子症 / 遺伝子 / 減数分裂異常 / セルトリ細胞 / セルトリ細胞症候群 / 男性不妊 / 精子形成 |
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| Research Abstract |
We investigated whether the human UBR2, SEPTIN12 and HORMAD1 genes are associated with azoospermia by meiotic arrest using mutational analysis in Japanese patients with azoospermia. We found the genotypic and allelic frequencies of c.1,066A>T variant in UBR2, and the c.204G>C (Gln38His) variant in SEPTIN12 were associated with azoospermia. We also detected three polymorphism sites, SNP1, SNP2 and SNP3 were found in exons 3, 8 and 10 in HORMAD1. Both SNP1 and SNP2 were associated with human azoospermia with meiotic arrest. In addition, mutational analysis of LRWD1 was conducted, and three SNPs were identified in the patients with SCOS. The frequency of the SNP1,2 alleles of LRWD1 were significantly elevated in the SCOS group. Moreover, the genotype and allele frequencies in SNP3, SNP4, and SNP6 of SEPTIN12 were notably higher in the SCOS group than in the control. These results suggest that UBR2, SEPTIN12, HORMAD1and LRWD1 might play critical roles in human spermatogenesis.
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Report
(4 results)
Research Products
(17 results)
