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Identification of candidate PAX2-regulated genes implicated in human kidney development
Yuta Yamamura1, Kengo Furuichi2, Yasuhiro Murakawa3
1Department of Nephrology and Laboratory Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa, Ishikawa, 920-8640, Japan.
Scientific Reports
|April 28, 2021
Summary
Researchers identified key human genes involved in kidney development and renal coloboma syndrome (RCS) using patient-derived stem cells. This study sheds light on PAX2 gene function in human kidney development.
Area of Science:
- Developmental Biology
- Genetics
- Stem Cell Biology
Background:
- PAX2 is crucial for kidney development and its mutations cause renal coloboma syndrome (RCS).
- Human kidney development mechanisms differ from mice, creating a knowledge gap.
- Understanding human PAX2 gene function is vital for RCS and kidney development research.
Purpose of the Study:
- To investigate human PAX2-dependent gene expression in kidney development.
- To identify key genes involved in RCS pathogenesis using patient-derived induced pluripotent stem cells (iPSCs).
- To compare human PAX2 targets with mouse data for conserved regulatory elements.
Main Methods:
- Utilized Cap analysis of gene expression (CAGE) in iPSCs from RCS patients with PAX2 mutations.
- Analyzed differential gene activation by PAX2 in human nephron progenitor cells.
- Cross-referenced findings with the FANTOM database of mouse kidney development genes.
Main Results:
- Identified 189 candidate promoters and 71 enhancers differentially activated by PAX2.
- Prioritized 17 candidate genes by comparing human and mouse PAX2-regulated gene lists.
- Ranked PBX1, POSTN, and ITGA9 as top candidates based on expression and inhibitor response.
Conclusions:
- Discovered novel human PAX2-regulated genes critical for kidney development.
- Provided insights into the molecular mechanisms underlying renal coloboma syndrome.
- Highlighted the potential of iPSC models for studying human kidney development and regeneration.
