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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Flat Mount Imaging of Mouse Skin and Its Application to the Analysis of Hair Follicle Patterning and Sensory Axon Morphology
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Published on: June 25, 2014

毛のない犬の突然変異により,FOXI3が皮膚外部の発達に関与していることが判明しました.

Cord Drögemüller1, Elinor K Karlsson, Marjo K Hytönen

  • 1University of Berne, 3001 Berne, Switzerland.

Science (New York, N.Y.)
|September 13, 2008
PubMed
まとめ

中国型クレストドッグのような品種で毛髪や歯の喪失を引き起こす犬外皮性硬化症 (CED) は,FOXI3遺伝子変異と関連しています. この発見は,FOXI3を犬の皮膚外部の発達の重要な調節因子として特定しています.

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Separation of Mouse Embryonic Facial Ectoderm and Mesenchyme
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Flat Mount Imaging of Mouse Skin and Its Application to the Analysis of Hair Follicle Patterning and Sensory Axon Morphology
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科学分野:

  • 遺伝学 遺伝学とは
  • 発達生物学 発達生物学について
  • カインサイエンス (犬科学)

背景:

  • 犬の外皮性不形成症 (CED) は,髪や歯の発達に影響を与える遺伝疾患です.
  • この現象型は,メキシコやペルーの無毛犬や中国の頂上型犬などの品種で観察されています.
  • CEDは,モノジェニック・オートソーマル・セミドミナントの遺伝パターンに従っている.

研究 の 目的:

  • 犬内皮質不形成症 (CED) に起因する遺伝子変異を特定する.
  • 皮膚外部の発達における特定の遺伝子の役割を理解する.

主な方法:

  • ゲノム全体の関連分析を用いて,その変異を特定した.
  • 犬の染色体17は,関連する遺伝的間隔を分析した.
  • FOXI3遺伝子の変異分析は,感染した犬で行われました.

主要な成果:

  • CED変異は,染色体17の102キロ塩基対間隔にマッピングされた.
  • この間隔で,以前は特徴づけられていなかったフォークヘッドボックス転写因子遺伝子FOXI3が特定されました.
  • FOXI3のコード配列のフレームシフト変異は,毛のない犬で発見されました.

結論:

  • FOXI3遺伝子は,外皮細胞発達の重要な調節因子として特定されています.
  • FOXI3の変異により,犬の皮膚外皮不形成症が発生し,毛髪や歯の脱毛を引き起こします.
  • この発見は,哺乳類における外皮発達の遺伝的基礎についての洞察を提供します.