Entrez Gene

General information | Expression | Regulation | Mutation | Interaction

Basic Information
Gene ID	171023
Name	ASXL1
Synonymous	BOPS\|MDS;additional sex combs like 1 (Drosophila);ASXL1;additional sex combs like 1 (Drosophila)
Definition	additional sex combs-like protein 1\|putative Polycomb group protein ASXL1
Position	20q11
Gene type	protein-coding
Source	Count: 1; Pubmed_search
Sentence	Abstract
These findings suggest that ASXL1 may function as a tumor suppressor in malignancies of the myeloid lineage by affecting stem or progenitor cell self-renewal or differentiation.	"The Additional sex combs like 1 (Asxl1) gene is 1 of 3 mammalian homologs of the Additional sex combs (Asx) gene of Drosophila. Asx is unusual because it is required to maintain both activation and silencing of Hox genes in flies and mice. Asxl proteins are characterized by an amino terminal homology domain, by interaction domains for nuclear receptors, and by a C-terminal plant homeodomain protein-protein interaction domain. A recent study of patients with myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMML) revealed a high incidence of truncation mutations that would delete the PHD domain of ASXL1. Here, we show that Asxl1 is expressed in all hematopoietic cell fractions analyzed. Asxl1 knockout mice exhibit defects in frequency of differentiation of lymphoid and myeloid progenitors, but not in multipotent progenitors. We do not detect effects on hematopoietic stem cells, or in peripheral blood. Notably, we do not detect severe myelodysplastic phenotypes or leukemia in this loss-of-function model. We conclude that Asxl1 is needed for normal hematopoiesis. The mild phenotypes observed may be because other Asxl genes have redundant function with Asxl1, or alternatively, MDS or oncogenic phenotypes may result from gain-of-function Asxl mutations caused by genomic amplification, gene fusion, or truncation of Asxl1."