Genomic Complexity of in : Implications for CRISPR Targeting and Disease Modeling.

Mutations in cause primary ciliary dyskinesia in humans. To evaluate the pathogenicity of variants in , we examined the genomic structure of this gene in , a diploid frog suitable as a model for genetic studies. We identified inconsistencies in the current gene model and discovered two distinct genes near the previously annotated locus. Surprisingly, , an allotetraploid species that typically has two homoeologs, contains only one homoeolog ( ), making it a more suitable genetic model for studying function and potentially expediting the functional characterization of CCDC40 variants linked to primary ciliary dyskinesia.