Accession PRJCA000236
Title Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell
Relevance Model organism
Data Types Transcriptome or Gene expression
Organisms Mus musculus
Description De novo ASXL1 mutations are found in patients with Bohring-Opitz syndrome, a disease with severe developmental defects and early childhood fatality. The underlying pathologic mechanisms remain largely unknown. Using Asxl1-targeted murine models,we found that Asxl1 global loss or conditional deletion in osteoblasts and their progenitors in mice leads to significant bone loss and markedly decreased numbers of marrow mesenchymal stem/progenitor cells (MSPCs) compared with wild-type (WT) littermates. Asxl1-/- MSPCs displayed impaired self-renewal and skewed differentiation-away from osteoblasts and favoring adipocytes. RNA-seq analysis reveals the altered expression of genes involved in cell proliferation, skeletal development and morphogenesis. Furthermore, gene set enrichment analysis showed a decreased gene expression of stem cell self-renewal signature,suggesting the role of Asxl1 in regulating the stemness of MSPCs. Importantly, introducing Asxl1 normalized NANOG and OCT4 expression and restored the self-renewal capacity of Asxl1-/- MSPCs. Our study unveils a pivotal role of ASXL1 in maintenance of MSPC functions and skeletal development.
Sample scope Monoisolate
Release date 2016-05-19
PubMed ID Article title Journal name DOI Year
27237378 Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice. Stem Cell Reports 10.1016/j.stemcr.2016.04.013 2016
Biomaterial provider Feng-Chun Yang
Agency program Grant ID Grant title
National Institutes of Health CA172408 CA172408
National Institutes of Health CA185751 CA185751
National Institutes of Health HL112294 HL112294
National Natural Science Foundation of China (NSFC) 81270612 81270612
Chinese Academy of Sciences (CAS) 153F11KYSB20150013 153F11KYSB20150013
Accessions in other database
Accession Database name
External link
External link Link description Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell
Submitter Fuhong    He  (
Organization Beijing Institute of Genomics, Chinese Academy of Sciences
Submission date 2016-05-19

Project Data

Resource name Description
BioSample (4) -
SAMC006257 KO897
SAMC006256 KO511
SAMC006255 WT535
SAMC006254 WT532
GSA (1) -
CRA000104 RNA-seq data for bone marrow stromal cells (BMSCs) from Asxl1-WT and Asxl1-KO mice