Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.

摘要: The study of mutations causing the steroid-resistant nephrotic syndrome in children has greatly advanced our understanding kidney filtration barrier. In particular, these genetic variants have illuminated roles podocyte, glomerular basement membrane and endothelial cell filtration. However, a significant number familial early onset cases, an underlying mutation cannot be identified, indicating that there are likely to multiple unknown genes with permeability. We now show how combination N-ethyl-N-nitrosourea mutagenesis next-generation sequencing could used identify range affecting pathways. Using this approach, we isolated novel mouse strain viable phenotype whole-genome isolate causative hypomorphic Lamb2. This discovery generated model for one part spectrum human Pierson’s provides powerful proof principle accelerating gene improving inherited forms renal disease. Copyright © 2013 Pathological Society Great Britain Ireland. Published by John Wiley & Sons, Ltd