Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause fanconi anemia

Asuka Hira, Kenichi Yoshida, Koichi Sato, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Akira Shimamoto, Hidetoshi Tahara, Etsuro Ito, Seiji Kojima, Hitoshi Kurumizaka, Seishi Ogawa, Minoru Takata*, Hiromasa Yabe, Miharu Yabe

*この研究の対応する著者

    研究成果: Article査読

    81 被引用数 (Scopus)

    抄録

    Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and various developmental abnormalities resulting from the defective FA pathway. FA is caused by mutations in genes that mediate repair processes of interstrand crosslinks and/or DNA adducts generated by endogenous aldehydes. The UBE2T E2 ubiquitin conjugating enzyme acts in FANCD2/FANCI monoubiquitination, a critical event in the pathway. Here we identified two unrelated FA-affected individuals, each harboring biallelic mutations in UBE2T. They both produced a defective UBE2T protein with the same missense alteration (p.Gln2Glu) that abolished FANCD2 monoubiquitination and interaction with FANCL. We suggest this FA complementation group be named FA-T.

    本文言語English
    ページ(範囲)1001-1007
    ページ数7
    ジャーナルAmerican Journal of Human Genetics
    96
    6
    DOI
    出版ステータスPublished - 2015

    ASJC Scopus subject areas

    • 遺伝学
    • 遺伝学(臨床)

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