Efficient mutation identification in zebrafish by microarray capturing and next generation sequencing

Fish models like medaka, stickleback or zebrafish provide a valuable resource to study vertebrate genes. However, finding genetic variants e.g. mutations in the genome is still arduous. Here we used a combination of microarray capturing and next generation sequencing to identify the affected gene in the mozartkugelp11cv (mzlp11cv) mutant zebrafish. We discovered a 31-bp deletion in macf1 demonstrating the potential of this technique to efficiently isolate mutations in a vertebrate genome.

Research highlights► The maternal-effect mutation mozartkugelp11cv shows an embryonic polarity defect. ► The mutation localizes to a 770 kb interval on zebrafish chromosome 19. ► DNA capturing and next-generation sequencing identifies a genomic deletion. ► The mutation causes a premature STOP-codon deleting 2483 amino acids of Macf1.