Genome-wide analyses of gene regulation mechanism during development of external genitalia and their clinical application

2015 Fiscal Year Final Research Report

• Project/Area Number: 24390372
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Urology
• Research Institution: Nagoya City University
• Principal Investigator: Hayashi Yutaro 名古屋市立大学, 医学(系)研究科(研究院), 准教授 (40238134)
• Co-Investigator(Kenkyū-buntansha): KAMISAWA Hideyuki 名古屋市立大学, 大学院医学研究科, 研究員 (00551277) ; KOHRI Kenjiro 名古屋市立大学, 学長 (30122047) ; MIZUNO Kentaro 名古屋市立大学, 大学院医学研究科, 講師 (70448710)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: ゲノム解析研究 / 性分化疾患 / 精巣

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.

Free Research Field

泌尿器科学