The Xenopus Embryo: An Ideal Model System to Study Human Ciliopathies

Abstract Over the past two decades or so, our understanding of gene function has come primarily from animal model organisms. In cases, when human disease alleles were found in developmental key genes, the translational aspect was deduced from the experimental animal model data. With the rapid improvement of sequencing technologies and data processing, we envisage that rare genetic disease alleles will be identified quickly and easily. As a consequence, experiments in animal models will be necessary to elucidate disease mechanisms, resulting in a workflow from the disease allele to experimentation in animal models. The Xenopus embryo is particularly qualified for this scenario. Knockdown of single or multiple gene functions, easy epistatic experimental setups as well as phenotypic readouts within a few days are only some of the advantages that the frog has to offer. In this review, we describe how the experimental advantages of the frog Xenopus have helped to unravel the function of a specific class of disease genes resulting in ciliopathies.
Source: Current Pathobiology Reports - Category: Laboratory Medicine Source Type: research