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

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    90 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)1001-1007
    Number of pages7
    JournalAmerican Journal of Human Genetics
    Issue number6
    Publication statusPublished - 2015

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)


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