Article
Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex.
Nature communications - 22 Jun 2015
Balasubramani Anand, Larjo Antti, Bassein Jed A, Chang Xing, Hastie Ryan B, Togher Susan M, Lähdesmäki Harri, Rao Anjana
Abstract excerpt
ASXL1 is the obligate regulatory subunit of a deubiquitinase complex whose catalytic subunit is BAP1. Heterozygous mutations of ASXL1 that result in premature truncations are frequent in myeloid leukemias and Bohring-Opitz syndrome. Here we demonstrate that ASXL1 truncations confer enhanced activity on the ASXL1-BAP1 complex. Stable expression of truncated, hyperactive ASXL1-BAP1 complexes in a haematopoietic...
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