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XB-ART-53117
Sci Rep January 1, 2017; 7 42506.
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Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography.

Deniz E , Jonas S , Hooper M , N Griffin J , Choma MA , Khokha MK .


Abstract
Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease. Here, we coupled the frog Xenopus tropicalis with Optical Coherence Tomography (OCT) to create a fast and efficient system for testing craniocardiac candidate genes. OCT can image cross-sections of microscopic structures in vivo at resolutions approaching histology. Here, we identify optimal OCT imaging planes to visualize and quantitate Xenopus heart and facial structures establishing normative data. Next we evaluate known human congenital heart diseases: cardiomyopathy and heterotaxy. Finally, we examine craniofacial defects by a known human teratogen, cyclopamine. We recapitulate human phenotypes readily and quantify the functional and structural defects. Using this approach, we can quickly test human craniocardiac candidate genes for phenocopy as a critical first step towards understanding disease mechanisms of the candidate genes.

PubMed ID: 28195132
PMC ID: PMC5307353
Article link: Sci Rep
Grant support: [+]

Species referenced: Xenopus tropicalis
Genes referenced: esd myh6
Morpholinos: myh6 MO1

Disease Ontology terms: visceral heterotaxy [+]

Article Images: [+] show captions
References [+] :
Abu-Daya, Absence of heartbeat in the Xenopus tropicalis mutation muzak is caused by a nonsense mutation in cardiac myosin myh6. 2009, Pubmed, Xenbase