Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants.

Zebrafish are an attractive model for studying the earliest cellular defects occurring during renal cyst formation because its kidney (the pronephros) is simple and genes that cause cystic kidney diseases (CKD) in humans, cause pronephric dilations in zebrafish. By comparing phenotypes in three different mutants, locke, swt and kurly, we find that dilations occur prior to 48 hpf in the medial tubules, a location similar to where cysts form in some mammalian diseases. We demonstrate that the first observable phenotypes associated with dilation include cilia motility and luminal remodeling defects. Importantly, we show that some phenotypes common to human CKD, such as an increased number of cells, are secondary consequences of dilation. Despite having differences in cilia motility, locke, swt and kurly share similar cystic phenotypes, suggesting that they function in a common pathway. To begin to understand the molecular mechanisms involved in cyst formation, we have cloned the swt mutation and find that it encodes a novel leucine rich repeat containing protein (LRRC50), which is thought to function in correct dynein assembly in cilia. Finally, we show that knock-down of polycystic kidney disease 2 (pkd2) specifically causes glomerular cysts and does not affect cilia motility, suggesting multiple mechanisms exist for cyst formation.

Pubmed ID: 18178183


  • Sullivan-Brown J
  • Schottenfeld J
  • Okabe N
  • Hostetter CL
  • Serluca FC
  • Thiberge SY
  • Burdine RD


Developmental biology

Publication Data

February 15, 2008

Associated Grants

  • Agency: NICHD NIH HHS, Id: 1R01HD048584
  • Agency: NIGMS NIH HHS, Id: P50GM071508
  • Agency: NICHD NIH HHS, Id: R01 HD048584
  • Agency: NICHD NIH HHS, Id: R01 HD048584-01A1

Mesh Terms

  • Animals
  • Cilia
  • Cloning, Molecular
  • Embryo, Nonmammalian
  • Kidney Glomerulus
  • Kidney Tubules
  • Microscopy, Video
  • Mutagenesis
  • Mutation
  • Nephrons
  • Phenotype
  • Zebrafish
  • Zebrafish Proteins