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Updated: Sep 10, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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全ゲノム配列解析により,牛皮病に寄与する希少で構造的な変異が発見され,CERCAM がリスク遺伝子として特定されました

Kyuto Sonehara1, Rei Watanabe2, Yutaka Matsumura3

  • 1Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.

Cell genomics
|August 23, 2025
PubMed
まとめ

この研究は,日本人の稀な構造的変異を分析することによって,ふわふわの牛皮病 (PsV) に寄与する新しい遺伝的要因を明らかにしています. この発見は,重要な感受性遺伝子としてIFIH1とCERCAMを強調し,PsVの遺伝子に関する理解を深めています.

キーワード:
遺伝子ベースの分析全ゲノム関連研究ノックアウトマウスモデル牛皮病 牛皮病珍しい変種単細胞RNA-seq空間トランスクリプトーム解析構造変数全ゲノムシーケンシング

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