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Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations CL

ABSTRACT: Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations CL

PROVIDER: PRJEB81224 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR13771045_1.fastq.gz	Fastqsanger.gz
	ERR13771045_2.fastq.gz	Fastqsanger.gz
	ERR13771046_1.fastq.gz	Fastqsanger.gz
	ERR13771046_2.fastq.gz	Fastqsanger.gz
	ERR13771047_1.fastq.gz	Fastqsanger.gz

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Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations CL

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Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations K

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Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.

Project description:Hepatocyte nuclear factor 1B (HNF1B) encodes a transcription factor expressed in developing human kidney epithelia. Heterozygous HNF1B mutations are the commonest monogenic cause of dysplastic kidney malformations (DKMs). To understand their pathobiology, we generated heterozygous HNF1B mutant kidney organoids from CRISPR-Cas9 gene-edited human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) reprogrammed from a family with HNF1B-associated DKMs. Mutant organoids contained enlarged malformed tubules displaying deregulated cell turnover. Numerous genes implicated in Mendelian kidney tubulopathies were downregulated, and mutant tubules resisted the cyclic AMP (cAMP)-mediated dilatation seen in controls. Bulk and single-cell RNA sequencing (scRNA-seq) analyses indicated abnormal Wingless/Integrated (WNT), calcium, and glutamatergic pathways, the latter hitherto unstudied in developing kidneys. Glutamate ionotropic receptor kainate type subunit 3 (GRIK3) was upregulated in malformed mutant nephron tubules and prominent in HNF1B mutant fetal human dysplastic kidney epithelia. These results reveal morphological, molecular, and physiological roles for HNF1B in human kidney tubule differentiation and morphogenesis illuminating the developmental origin of mutant-HNF1B-causing kidney disease.

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Identification of GLIS3 and HNF1b target genes in kidney

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Gene expression array between wild-type and mutant Hnf1b cells

Project description:The complete specrtum of genes that are subject to regulation by Hnf1b in mouse kidney cells is not known. We used microarray to determine genes that are significenlty deregulated in repsonse to altered HNF1b activity.

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Identification of GLIS3 and HNF1b target genes in kidney

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Topoisomerase I (TOP1) is a functional mitotic interactor of the bookmarking factor HNF1B

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