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Homo sapiens

ABSTRACT: Pluripotent stem cell disease modeling of GATA6 haploinsufficiency in human pancreatic development

PROVIDER: PRJNA306028 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR3001511_1.fastq.gz	Fastqsanger.gz
	SRR3001511_2.fastq.gz	Fastqsanger.gz
	SRR3001512_1.fastq.gz	Fastqsanger.gz
	SRR3001512_2.fastq.gz	Fastqsanger.gz
	SRR3001513_1.fastq.gz	Fastqsanger.gz

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Project description:Pluripotent stem cell disease modeling of GATA6 haploinsufficiency in human pancreatic development

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GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis (RNA-Seq)

Project description:Haploinsufficiency for GATA6 is associated with congenital heart disease (CHD) with variable comorbidity of pancreatic or diaphragm defects, although the etiology of disease is not well understood. Here, we used cardiac directed differentiation from human embryonic stem cells (hESCs) as a platform to study GATA6 function during early cardiogenesis. GATA6 loss-of-function hESCs had a profound impairment in cardiac progenitor cell (CPC) specification and cardiomyocyte (CM) generation due to early defects during the mesendoderm and lateral mesoderm patterning stages. Profiling by RNA-seq and CUT&RUN identified genes of the WNT and BMP programs regulated by GATA6 during early mesoderm patterning. Furthermore, interactome analysis detected GATA6 binding with developmental transcription factors and chromatin remodelers suggesting cooperative regulation of cardiac lineage gene accessibility. We show that modulating WNT and BMP inputs during the first 48 hours of cardiac differentiation is sufficient to partially rescue CPC and CM defects in GATA6 heterozygous and homozygous mutant hESCs. This study provides evidence of the regulatory functions for GATA6 directing human precardiac mesoderm patterning during the earliest stages of cardiogenesis to further our understanding of haploinsufficiency causing CHD and the co-occurrence of cardiac and other organ defects caused by human GATA6 mutations.

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Project description:To better understand molecular mechanisms of human pancreatic development associated with GATA6 haploinsufficiency, we performed RNA-seq analysis to characterize the biological processes affected by GATA6 heterozygous mutation. We identified 542 differential expression genes in the mutants, of which 310 were downregulated. Gene ontology analysis showed that top downregulated transcription factors were associated with developmental process.

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