Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease. Among 12 reported Nphp gene products, Inv/Nphp2, Nphp3 and Nek8/Nphp9 are localized to the proximal segment in the primary cilium. However, the functional relationships are unknown. This study focused on phenotype analysis of
nek8 knockdown embryos and the genetic relationship between
nek8 and
inv in zebrafish. Knockdown of
nek8 produced both pronephric cysts and abnormal cardiac looping. Simultaneous knockdown of
nek8 and
inv synergistically increased the incidence of these defects. Interestingly,
nek8 mRNA rescued
inv morphant phenotypes, although
inv mRNA could not rescue
nek8 morphant phenotypes. These results suggest that Nek8 acts downstream of Inv function.
Structured summary of protein interactions
with by ()