Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1–BAP1 complex

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Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1–BAP1 complex

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...

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ژورنال

عنوان ژورنال: Nature Communications

سال: 2015

ISSN: 2041-1723

DOI: 10.1038/ncomms8307