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

doi:10.1016/j.ajhg.2015.04.022

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 journal › Article › peer-review

90 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	1001-1007
Number of pages	7
Journal	American Journal of Human Genetics
Volume	96
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2015.04.022
Publication status	Published - 2015

ASJC Scopus subject areas

Genetics
Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Hira, A., Yoshida, K., Sato, K., Okuno, Y., Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Shimamoto, A., Tahara, H., Ito, E., Kojima, S., Kurumizaka, H., Ogawa, S., Takata, M., Yabe, H., & Yabe, M. (2015). Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause fanconi anemia. American Journal of Human Genetics, 96(6), 1001-1007. https://doi.org/10.1016/j.ajhg.2015.04.022

Hira, A, Yoshida, K, Sato, K, Okuno, Y, Shiraishi, Y, Chiba, K, Tanaka, H, Miyano, S, Shimamoto, A, Tahara, H, Ito, E, Kojima, S, Kurumizaka, H, Ogawa, S, Takata, M, Yabe, H & Yabe, M 2015, 'Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause fanconi anemia', American Journal of Human Genetics, vol. 96, no. 6, pp. 1001-1007. https://doi.org/10.1016/j.ajhg.2015.04.022

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abstract = "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.",

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

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AU - Hira, Asuka

AU - Yoshida, Kenichi

AU - Sato, Koichi

AU - Okuno, Yusuke

AU - Shiraishi, Yuichi

AU - Chiba, Kenichi

AU - Tanaka, Hiroko

AU - Miyano, Satoru

AU - Shimamoto, Akira

AU - Tahara, Hidetoshi

AU - Ito, Etsuro

AU - Kojima, Seiji

AU - Kurumizaka, Hitoshi

AU - Ogawa, Seishi

AU - Takata, Minoru

AU - Yabe, Hiromasa

AU - Yabe, Miharu

PY - 2015

Y1 - 2015

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AB - 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.

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

Abstract

ASJC Scopus subject areas

UN SDGs

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