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Semin Cell Dev Biol 2016 Mar 01;51:73-9. doi: 10.1016/j.semcdb.2016.02.022.
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Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy.

Duncan AR , Khokha MK .

Congenital heart disease is the leading cause of birth defects, affecting 9 out of 1000 newborns each year. A particularly severe form of congenital heart disease is heterotaxy, a disorder of left-right development. Despite aggressive surgical management, patients with heterotaxy have poor survival rates and severe morbidity due to their complex congenital heart disease. Recent genetic analysis of affected patients has found novel candidate genes for heterotaxy although their underlying mechanisms remain unknown. In this review, we discuss the importance and challenges of birth defects research including high locus heterogeneity and few second alleles that make defining disease causality difficult. A powerful strategy moving forward is to analyze these candidate genes in a high-throughput human disease model. Xenopus is ideal for these studies. We present multiple examples demonstrating the power of Xenopus in discovering new biology from the analysis of candidate heterotaxy genes such as GALNT11, NEK2 and BCOR. These genes have diverse roles in embryos and have led to a greater understanding of complex signaling pathways and basic developmental biology. It is our hope that the mechanistic analysis of these candidate genes in Xenopus enabled by next generation sequencing of patients will provide clinicians with a greater understanding of patient pathophysiology allowing more precise and personalized medicine, to help patients more effectively in the future.

PubMed ID: 26910255
PMC ID: PMC4809202
Article link: Semin Cell Dev Biol
Grant support: [+]

Species referenced: Xenopus
Genes referenced: arl13b bcor chd7 dand5 galnt11 hes5 nek2 nodal nodal1 nup188 nup98 pitx2 tbx20
GO keywords: neural crest cell migration [+]

Disease Ontology terms: visceral heterotaxy [+]

Article Images: [+] show captions
References [+] :
Abu-Issa, Patterning of the heart field in the chick. 2008, Pubmed