Mutation and polymorphism analyses of INSL3, LGR8/GREAT and SF-1 in patients with cryptorchidism

2008 Fiscal Year Final Research Report

• Project/Area Number: 19790248
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Human genetics
• Research Institution: National Research Institute for Child Health and Development
• Principal Investigator: WADA Yuka National Research Institute for Child Health and Development, 小児思春期発育研究部, 共同研究員 (80399485)
• Project Period (FY): 2007 – 2008
• Keywords: 分子遺伝学 / 停留精巣 / 性分化異常症(DSD)

Research Abstract

INSL3の多型であるAla24Ala (72G>A)とSF-1 (Steroidogenic factor-1)の多型であるGly146Alaは停留精巣に劣性効果をもたらしていることが判明した。

Research Products

• [Journal Article] MAMLD1 (CXorf6) is a new genge for Hypospadias (2008)
  • Author(s): Ogata T, Fukami M, Wada Y
  • Journal Title: Clin Pediatr Endocrinol 17(4) Pages: 87-93
  • Peer Reviewed
• [Journal Article] Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with Campomelic dysplasia or Acampomelic dysplasia (2008)
  • Author(s): Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T
  • Journal Title: Am J Med Genet (In press)
  • Peer Reviewed
• [Journal Article] MAMLD1(CXorf6): A new gene for hypospadias (2008)
  • Author(s): Wada Y, Fukami M, Ogata T
  • Journal Title: 生殖内分泌学会雑誌 13 Pages: 37-43
  • Peer Reviewed
• [Presentation] Haplotype analysis of the estrogen receptor a gene in male genital and reproductive abnormalities (2008)
  • Author(s): T, Fukami M, Wada Y, Yoshida R, Watanabe M
  • Organizer: In: The Royan International Twin Congress (The 9th Congress on Reproductive Biomedicine and The 4th Congress on Stem Cell Biology and Technology)
  • Place of Presentation: Tehran
  • Year and Date: 20080827-29
• [Presentation] Cxorf6(MAMALD1) is a causative gene for hypospadias (2008)
  • Author(s): 和田友香、深見真紀、宮林加奈子、西野一三、長谷川奉延、山田源、諸橋憲一郎、緒方勤
  • Organizer: アンドロロジー学会
  • Place of Presentation: 京都
  • Year and Date: 20080700
• [Presentation] Campomelic dysplasiaとacampomelic campomelic dysplasia 8症例におけるSOX9変異解析とCNV解析 (2008)
  • Author(s): 和田友香、澤井英明、吉形真由美、宮河真一郎、埴田卓志、佐藤清二、長谷川奉延、永井敏郎、山本俊平、西村玄、緒方勤
  • Organizer: 第53回日本人類遺伝学会
  • Year and Date: 20080000
• [Presentation] Campomelic dysplasaiaとcampomelic campomelic dysplasia患者14例におけるSOX9変異の有無と臨床像の関連性 (2008)
  • Author(s): 和田友香、山澤一樹、鏡雅代、吉形真由美、埴田卓志、宮河真一郎
  • Organizer: 日本周産期学会
  • Place of Presentation: 横浜
  • Year and Date: 2008-07-14