最近の研究によれば、コヒーシンやその制御因子をコードする遺伝子の変異がヒトの遺伝疾患を引き起こすことが明らかになりつつある。これまでに、コーネリア・デ・ランゲ症候群(Cornelia de Lange syndrome)とロバーツ症候群(Roberts syndrome)の2例が報告されている。コーネリア・デ・ランゲ症候群の原因タンパク質として、初めて同定されたのはコヒーシンをクロマチンに結合させるNIPBLである[30][31]。その後、コヒーシン・サブユニットの変異[32]やコヒーシンの再利用を促進する脱アセチル化酵素HDAC8の変異[33]がコーネリア・デ・ランゲ症候群を引き起こすことが報告された。ロバーツ症候群の原因タンパク質としては、コヒーシンのアセチル化酵素ESCO2が同定されている[34]。コヒーシンの制御異常によって引き起こされるこれらの疾患は、コヒーシン病(cohesinopathy)と総称される。
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参考図書
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