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

Journal Article (Journal Article)

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 cost-effective 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.

Full Text

Duke Authors

Cited Authors

  • Ryan, S; Willer, J; Marjoram, L; Bagwell, J; Mankiewicz, J; Leshchiner, I; Goessling, W; Bagnat, M; Katsanis, N

Published Date

  • November 2013

Published In

Volume / Issue

  • 140 / 21

Start / End Page

  • 4445 - 4451

PubMed ID

  • 24130329

Pubmed Central ID

  • PMC4007718

Electronic International Standard Serial Number (EISSN)

  • 1477-9129

Digital Object Identifier (DOI)

  • 10.1242/dev.101170


  • eng

Conference Location

  • England