2015年6月
Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia
AMERICAN JOURNAL OF HUMAN GENETICS
- 巻
- 96
- 号
- 6
- 開始ページ
- 1001
- 終了ページ
- 1007
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.ajhg.2015.04.022
- 出版者・発行元
- CELL PRESS
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.
- リンク情報
- ID情報
-
- DOI : 10.1016/j.ajhg.2015.04.022
- ISSN : 0002-9297
- eISSN : 1537-6605
- Web of Science ID : WOS:000355931200015