Accession PRJCA000384
Title Human NOTCH4 Is a Key Target of RUNX1 in Megakaryocytic Differentiation
Relevance Medical
Data types Epigenomics
Organisms Homo sapiens
Description Megakaryocytes (MKs) in adult marrow produce platelets that play important roles in blood coagulation and hemostasis. Mono-allelic mutations of the master transcription factor RUNX1 lead to familial platelet disorder (FPD) characterized by defective MK and platelet development. However, the molecular mechanisms in FPD remain unclear. Previously, we generated human induced pluripotent stem cells (iPSCs) from FPD patients containing a RUNX1 nonsense mutation: Indeed MKs developed from FPD-iPSCs was reduced and targeted correction of the RUNX1 mutation restored MK production. In this study, we took advantage of isogenic pairs of FPD-iPSCs and MK differentiation system to identify RUNX1 direct target genes. Using integrative genomic and bioinformatic analysis of hematopoietic progenitor cells generated from FPD iPSCs and mutation-corrected isogenic control, we identified two gene sets whose transcription are either up- or down-regulated by RUNX1 binding in mutation-corrected and normal iPSCs.
Sample scope Monoisolate
Release date 2018-01-01
Publication
PubMed ID Article title Journal name DOI Year
29101237 Human NOTCH4 is a key target of RUNX1 in megakaryocytic differentiation Blood 10.1182/blood-2017-04-780379 2018
Submitter Chen    Jin  (jinchen@big.ac.cn)
Organization Beijing Institute of Genomics, Chinese Academy of Sciences
Submission date 2017-03-21

Project Data

Resource name Description
BioSample (5) -
SAMC012473 FPD_RUNX1_corrected_2
SAMC012472 FPD_2
SAMC012471 FPD
SAMC012470 BC1
SAMC012469 FPD_RUNX1_corrected
GSA (1) -
CRA000215 CRA_215