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The additional sex combs-like 1 ( ASXL1 ) gene has a central role in the epigenetic regulation of chromatin remodelling and subsequent gene transcription via multiple mechanisms. These include the regulation of histone H2A deubiquitination 1 as well as polycomb group repressor complex 2 mediated homeobox ( HOX ) gene transcription 2 . ASXL1 mutations are a recurrent finding in myeloid malignancies, where they are typically heterozygous in keeping with a haploinsufficiency effect 3 . Mutated ASXL1 status has been associated with an inferior overall survival in acute myeloid leukaemia (AML) 4 , myelodysplastic syndromes (MDS) 5 , chronic myelomonocytic leukaemia (CMML) 6 , myelofibrosis 7 , aplastic anaemia 8 and age-related clonal haematopoiesis 9 .
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Yannakou et al. (2017) studied this question.
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