Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish

Sean Ryan, Jason Willer, Lindsay Marjoram, Jennifer Bagwell, Jamie Mankiewicz, Ignaty Leshchiner, Wolfram Goessling, Michel Bagnat*, Elias Nicholas Katsanis

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Forward genetic approaches in zebrafish have provided invaluable information about developmental processes. However, the relative difficulty of mapping and isolating mutations has limited the number of new genetic screens. Recent improvements in the annotation of the zebrafish genome coupled to a reduction in sequencing costs prompted the development of whole genome and RNA sequencing approaches for gene discovery. Here we describe a whole exome sequencing (WES) approach that allows rapid and costeffective identification of mutations. We used our WES methodology to isolate four mutations that cause kidney cysts; we identified novel alleles in two ciliary genes as well as two novel mutants. The WES approach described here does not require specialized infrastructure or training and is therefore widely accessible. This methodology should thus help facilitate genetic screens and expedite the identification of mutants that can inform basic biological processes and the causality of genetic disorders in humans.

Original languageEnglish (US)
Pages (from-to)4445-4451
Number of pages7
JournalDevelopment (Cambridge)
Issue number21
StatePublished - Nov 1 2013


  • Cilia
  • Exome sequencing
  • Kidney cyst

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology


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