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SLC20A1 Is Involved in Urinary Tract and Urorectal Development
Johanna Magdalena Rieke1,2,3, Rong Zhang4, Doreen Braun1
1Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.
Frontiers in Cell and Developmental Biology
|August 28, 2020
Summary
The phosphate transporter SLC20A1 is crucial for urinary tract and urorectal development. Variants in SLC20A1 cause kidney cysts and cloacal malformations, implicating it in bladder exstrophy-epispadias complex.
Area of Science:
- Developmental Biology
- Genetics
- Molecular Biology
Background:
- The phosphate transporter SLC20A1 (also known as slc20a1a in zebrafish) has been observed in pronephric kidneys of developing vertebrates.
- SLC20A1 is a candidate gene for cloacal exstrophy, suggesting a role in urorectal development.
- The precise function of SLC20A1 in urinary tract development remains largely unknown.
Purpose of the Study:
- To investigate the functional role of SLC20A1 in urinary tract and urorectal development using zebrafish models.
- To identify genetic variants in SLC20A1 associated with bladder exstrophy-epispadias complex (BEEC) in humans.
- To explore the cellular mechanisms underlying SLC20A1-associated developmental defects.
Main Methods:
- Morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a.
- Immunohistochemistry on human embryonic tissues.
- Resequencing of SLC20A1 in individuals with BEEC.
- Functional assays of SLC20A1 variants in HEK293 cells.
Main Results:
- slc20a1a knockdown in zebrafish resulted in kidney cysts, cloacal malformations, dysfunctional voiding, and hindgut opening defects.
- SLC20A1 expression was detected in the urinary tract and abdominal midline of human embryos.
- Two novel monoallelic de novo SLC20A1 variants were identified in individuals with BEEC, including cloacal exstrophy.
- Expressed SLC20A1 variants did not impair phosphate transport but showed a trend towards reduced cleaved caspase-3 levels, suggesting a role in apoptosis pathways.
Conclusions:
- SLC20A1 plays a significant role in embryonic urinary tract and urorectal development.
- Genetic variants in SLC20A1 are implicated as a cause of bladder exstrophy-epispadias complex.
- The disease mechanism may involve dysregulation of apoptosis rather than impaired phosphate transport.
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