SUMO1ハプロイン欠乏症は,口唇裂けと口腔裂けを引き起こします

Fowzan S Alkuraya¹, Irfan Saadi, Jennifer J Lund

¹Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, NRB-458, 77 Louis Pasteur, Boston, MA 02115, USA.

Science (New York, N.Y.)

|September 23, 2006

まとめ

小型ユビキチン関連改変因子 (SUMO1) 遺伝子の障害により,唇の裂け方や空口の裂け方が生じます. SUMO1は,唇と天口の発達に不可欠であり,スモイル化を強調しています.

科学分野:

遺伝学遺伝学とは
発達生物学発達生物学とは
分子生物学は分子生物学である.

背景:

翻訳後の改変,スモイレーションは,基板タンパク質に影響します.
唇の裂け口は,一般的な生まれつきの欠陥です.
SUMO1遺伝子の障害は,ハプロイン不十分症につながる可能性があります.

研究の目的:

唇の裂け口におけるSUMO1の役割を調査する.
SUMO1ハプロイン欠乏症が表面裂けの原因であるかどうかを判断する.
スモイレーションによって調節される palatogenesis に関する遺伝子のネットワークを特定する.

主な方法:

隔離された唇の裂け目と口腔の裂け目とSUMO1遺伝子転位を持つ患者を研究しました.
Sumo1の低形状マウスモデルを生成しました.
Sumo1と他の裂け方に関連する遺伝子の間の遺伝的相互作用を分析した.

主要な成果:

SUMO1は,マウスの発達中の唇と天口で発現する.
Sumo1のハイポモルフィックアレルは,不完全に浸透するオロファシアル・クリフティング・フェノタイプをもたらした.
スモイレーションは,裂けに絡むいくつかの遺伝子を標的にします.
Sumo1の低形変異性アレルは,裂けに関連した遺伝子の機能喪失アレルとの遺伝的相互作用を示した.

結論:

Sumoylationは,正常な palatogenesisのために不可欠である.
SUMO1は,唇と天口の発達において重要な役割を果たします.
スモイレーションは, palatogenesisに不可欠な遺伝子ネットワークを定義します.

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