| Budget Amount *help |
¥18,590,000 (Direct Cost: ¥14,300,000、Indirect Cost: ¥4,290,000)
Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2014: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Fiscal Year 2013: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2012: ¥9,750,000 (Direct Cost: ¥7,500,000、Indirect Cost: ¥2,250,000)
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| Outline of Final Research Achievements |
The importance of tissue-specific promoter region is now attracting attention in the field of developmental biology. In the present study, we aimed to elucidate the developmental mechanisms of external genitalia comprehensively through genome-wide analyses of gene mutations in the patients with hypospadias, as the typical developmental disorder of external genitalia. First, we investigated the genomic structures in the patients with 46,XY testicular DSD (Disorders of sex development). As a result, we detected copy number variation at the upstream 566kb genomic region of SOX3 gene at Xq27.1. We estimated this regions as specific promoter region of SOX3 gene during testicular development.
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