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Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 2014
Rasheed A Gbadegesin, and
Gentzon Hall, and
Adebowale Adeyemo, and
Nils Hanke, and
Irini Tossidou, and
James Burchette, and
Guanghong Wu, and
Alison Homstad, and
Matthew A Sparks, and
Jose Gomez, and
Ruiji Jiang, and
Andrea Alonso, and
Peter Lavin, and
Peter Conlon, and
Ron Korstanje, and
M Christine Stander, and
Ghaidan Shamsan, and
Moumita Barua, and
Robert Spurney, and
Pravin C Singhal, and
Jeffrey B Kopp, and
Hermann Haller, and
David Howell, and
Martin R Pollak, and
Andrey S Shaw, and
Mario Schiffer, and
Michelle P Winn
Departments of Pediatrics, Center for Human Genetics, Duke University Medical Center, Durham, North Carolina; rasheed.gbadegesin@duke.edu.
FSGS is characterized by segmental scarring of the glomerulus and is a leading cause of kidney failure. Identification of genes causing FSGS has improved our understanding of disease mechanisms and points to defects in the glomerular epithelial cell, the podocyte, as a major factor in disease pathogenesis. Using a combination of genome-wide linkage studies and whole-exome sequencing in a kindred with familial FSGS, we identified a missense mutation R431C in anillin (ANLN), an F-actin binding cell cycle gene, as a cause of FSGS. We screened 250 additional families with FSGS and found another variant, G618C, that segregates with disease in a second family with FSGS. We demonstrate upregulation of anillin in podocytes in kidney biopsy specimens from individuals with FSGS and kidney samples from a murine model of HIV-1-associated nephropathy. Overexpression of R431C mutant ANLN in immortalized human podocytes results in enhanced podocyte motility. The mutant anillin displays reduced binding to the slit diaphragm-associated scaffold protein CD2AP. Knockdown of the ANLN gene in zebrafish morphants caused a loss of glomerular filtration barrier integrity, podocyte foot process effacement, and an edematous phenotype. Collectively, these findings suggest that anillin is important in maintaining the integrity of the podocyte actin cytoskeleton.
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