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Front. Physiol. | doi: 10.3389/fphys.2019.00953

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and their Underlying Pathological Mechanisms Relevant for Organogenesis

  • 1School of Medicine, Yale University, United States
  • 2Yale Medicine, United States

Frog model organisms have been appreciated for their utility in exploring physiological phenomena for nearly a century. Now, a vibrant community of biologists that utilize this model organism has poised Xenopus to serve as a high throughput vertebrate organism to model patient-driven genetic diseases. This has facilitated the investigation of effects of patient mutations on specific organs and signaling pathways. This approach promises a rapid investigation into novel mechanisms that disrupt normal organ morphology and function. Considering that many disease states are still interrogated in vitro to determine relevant biological processes for further study, the prospect of interrogating genetic disease in Xenopus in vivo is an attractive alternative. This model may more closely capture important aspects of the pathology under investigation such as cellular micro environments and local forces relevant to a specific organ’s development and homeostasis. This review aims to highlight recent methodological advances that allow investigation of genetic disease in organ-specific contexts in Xenopus as well as provide examples of how these methods have led to the identification of novel mechanisms and pathways important for understanding human disease.

Keywords: Xenopus, Gene discovery, Organogenesis, Mechanism discovery, genetics of congenital malformation, disease model, Birth defect

Received: 30 Oct 2018; Accepted: 09 Jul 2019.

Edited by:

Timothy J. Moss, The Ritchie Centre, Hudson Institute of Medical Research, Australia

Reviewed by:

Peter Walentek, Freiburg University Medical Center, Germany
André Brändli, Ludwig Maximilian University of Munich, Germany  

Copyright: © 2019 Hwang, Marquez and Khokha. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: MD. Mustafa Khokha, School of Medicine, Yale University, New Haven, United States,