ArticleHuman molecular genetics2008
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 81 citations in OpenAlex.
- Review
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- Genetic and epigenetic background of diabetic kidney disease.Frontiers in endocrinology · 2023Review
- The term CAKUT has outlived its usefulness: the case for the prosecution.Pediatric nephrology (Berlin, Germany) · 2022Review
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
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- 3D Mapping Reveals a Complex and Transient Interstitial Matrix During Murine Kidney Development.Journal of the American Society of Nephrology : JASN · 2021Article
- Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.Journal of nephrology · 2021Article
- Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.Disease models & mechanisms · 2021Review
- Novel Linkage Peaks Discovered for Diabetic Nephropathy in Individuals With Type 1 Diabetes.Diabetes · 2021Article
- Nephron Progenitor Maintenance Is Controlled through Fibroblast Growth Factors and Sprouty1 Interaction.Journal of the American Society of Nephrology : JASN · 2020Article
- Overactivity or blockade of transforming growth factor-β each generate a specific ureter malformation.The Journal of pathology · 2019Article
- Developmental pathology of congenital kidney and urinary tract anomalies.Clinical kidney journal · 2019Article
- 3D organoid-derived human glomeruli for personalised podocyte disease modelling and drug screening.Nature communications · 2018Article
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
FRAS1 is mutated in some individuals with Fraser syndrome (FS) and the encoded protein is expressed in embryonic epidermal cells, localizing in their basement membrane (BM). Syndactyly and cryptophthalmos in FS are sequelae of skin fragility but the bases for associated kidney malformations are unclear. We demonstrate that Fras1 is expressed in the branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant blebbed (bl) mice on a C57BL6J background. In vivo, the bl/bl bud fails to invade metanephric mesenchyme which undergoes involution, events replicated in organ culture. The expression of glial cell line-derived neurotrophic factor and growth-differentiation factor 11 was defective in bl/bl renal primordia in vivo, whereas, in culture, the addition of either growth factor restored bud invasion into the mesenchyme. Mutant primordia also showed deficient expression of Hoxd11 and Six2 transcription factors, whereas the activity of bone morphogenetic protein 4, an anti-branching molecule, was upregulated. In wild types, Fras1 was also expressed by nascent nephrons. Foetal glomerular podocytes expressed Fras1 transcripts and Fras1 immunolocalized in a glomerular BM-like pattern. On a mixed background, bl mutants, and also compound mutants for bl and my, another bleb strain, sometimes survive into adulthood. These mice have two kidneys, which contain subsets of glomeruli with perturbed nephrin, podocin, integrin alpha3 and fibronectin expression. Thus, Fras1 protein coats branching UB epithelia and is strikingly upregulated in the nephron lineage after mesenchymal/epithelial transition. Fras1 deficiency causes defective interactions between the bud and mesenchyme, correlating with disturbed expression of key nephrogenic molecules. Furthermore, Fras1 may also be required for the formation of normal glomeruli.
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