Fig. 6

Identification of Candidates for Human Nephrotic Syndrome Disease-Causing Genes

(A) Clustering analysis (t-SNE) of 6,700 proteins for which absolute protein expression, relative protein expression, mRNA expression, and tissue-specific mRNA expression were available.

(B) Heatmap analysis of expression of disease genes and one previously unreported candidate gene, FARP1, as well as five candidates from a previous study (Yu et al., 2016).

(C) Sanger sequencing of the respective regions of FARP1 demonstrates segregation of the mutated alleles with the affected status in family F1138 (FARP1).

(D and E) Embryonic and renal expression profile of the candidate protein Farp1 by in situ hybridization.

(D) Farp1 shows high expression in metanephric glomerular precursors and readily detectable expression in neuronal tissues and, to some extent, in other pulmonary epithelial structures in embryonic day 14.5 (E14.5) mouse embryos.

(E) Farp1 expression is maintained in murine P1 kidneys in glomeruli.

(F) Knockdown of farp1 in zebrafish induces edema and pericardial effusion (arrow), indicating proteinuria and podocyte dysfunction.

(G) Overview of insights into podocyte biology obtained from this study.