# Genomic Complexity of ccdc40 in Xenopus : Implications for CRISPR Targeting and Disease Modeling

## TL;DR

This paper explores the genomic structure of CCDC40 in Xenopus frogs to better understand its role in a human disease and improve genetic modeling.

## Contribution

The study reveals two distinct ccdc40 genes in Xenopus tropicalis and identifies a single homoeolog in Xenopus laevis suitable for genetic studies.

## Key findings

- Xenopus tropicalis has two distinct ccdc40 genes near the previously annotated locus.
- Xenopus laevis contains only one homoeolog (ccdc40.S), making it a better model for studying CCDC40.
- The findings may help in understanding CCDC40 variants linked to primary ciliary dyskinesia.

## Abstract

Mutations in
CCDC40
cause primary ciliary dyskinesia in humans. To evaluate the pathogenicity of variants in
CCDC40
, we examined the genomic structure of this gene in
Xenopus tropicalis
, a diploid frog suitable as a model for genetic studies. We identified inconsistencies in the current
ccdc40
gene model and discovered two distinct
ccdc40
genes near the previously annotated locus. Surprisingly,
Xenopus
laevis
, an allotetraploid species that typically has two homoeologs, contains only one homoeolog (
ccdc40.S
), making it a more suitable genetic model for studying
ccdc40
function and potentially expediting the functional characterization of CCDC40 variants linked to primary ciliary dyskinesia.