【摘 要】
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Fanconi anemia (FA) is a rare genetic disease characterized by genome instability,cancer predisposition, bone marrow failure and various developmental abnormalities.Here we report two unrelated Japane
【机 构】
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Kyoto University Waseda University
【出 处】
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The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern
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Fanconi anemia (FA) is a rare genetic disease characterized by genome instability,cancer predisposition, bone marrow failure and various developmental abnormalities.Here we report two unrelated Japanese FA cases caused by biallelic mutations in UBE2T, the ubiquitin-conjugating enzyme (E2) gene.Upon DNA damage and following ATR activation, UBE2T mediates monoubiquitination of FANCD2/FANCI proteins, the key step in the FA pathway, together with the E3 ligase subunit FANCL in the FA core complex.
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