Article
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.
Blood - 2 Jul 2009
Singh Thiyam Ramsing, Bakker Sietske T, Agarwal Sheba, Jansen Michael, Grassman Elke, Godthelp Barbara C, Ali Abdullah Mahmood, Du Chang-hu, Rooimans Martin A, Fan Qiang, Wahengbam Kebola, Steltenpool Jurgen, Andreassen Paul R, Williams David A, Joenje Hans, de Winter Johan P, Meetei Amom Ruhikanta
Abstract excerpt
FANCM is a component of the Fanconi anemia (FA) core complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described. Strikingly, we found that EUFA867 also carries biallelic mutations in FANCA. After correcting the FANCA defect in EUFA867 lymphoblasts, a "clean" FA-M cell line was generated. These cells were hypersensitive to mitomycin C, but unlike cells defective in other core complex...
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