ゲノム刷り込みとＢｅｃｋｗｉｔｈ‐Ｗｉｅｄｅｍａｎｎ症候群

• 東元 健

  佐賀大学医学部分子生命科学講座分子遺伝学・エピジェネティクス分野

• 副島 英伸

  佐賀大学医学部分子生命科学講座分子遺伝学・エピジェネティクス分野

書誌事項

タイトル別名

• Genomic Imprinting and Beckwith-Wiedemann Syndrome

抄録

Eutherians and marsupials have particular kinds of genes, which are contradictory to Mendel's law and show parent-of-origin-specific expression. This phenomenon is called genomic imprinting. Most imprinted genes are involved in development of the placenta and the individual. Abnormalities of imprinted genes, such as a disruption of the imprinting system or gene mutations, cause several congenital diseases and cancer. Beckwith-Wiedemann syndrome (BWS) is a well-known imprinting-related disease characterized by macrosomia, macroglossia, and abdominal wall defects. The BWS locus is 11p15.5, which is one of the well-studied imprinted regions. Here, we describe the mechanisms of imprinted gene regulation and imprinting disruptions leading to BWS, different frequencies of some alterations between Japanese and other peoples, and the relation between assisted reproductive technology and BWS.

収録刊行物

• 日本小児血液学会雑誌

  日本小児血液学会雑誌 22 (3), 139-143, 2008

  特定非営利活動法人　日本小児血液・がん学会

キーワード

• genomic imprinting
• imprinted gene
• DNA methylation
• Beckwith-Wiedemann syndrome
• assisted reproductive technology

詳細情報

• CRID: 1390282679319251072
• NII論文ID: 130004345981
• NII論文ID: 10029309180
• NII書誌ID: AN10080852
• DOI: 10.11412/jjph1987.22.139
• ISSN: 18844723
• ISSN: 09138706
• Web Site: https://search.jamas.or.jp/link/ui/2008259284
• 本文言語コード: ja
• データソース種別:
  • JaLC
  • CiNii Articles
  • KAKEN
• 抄録ライセンスフラグ: 使用不可