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Curr Top Dev Biol
2021 Jan 01;145:277-312. doi: 10.1016/bs.ctdb.2021.03.005.
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Xenopus as a platform for discovery of genes relevant to human disease.
Kostiuk V
,
Khokha MK
.
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Congenital birth defects result from an abnormal development of an embryo and have detrimental effects on children's health. Specifically, congenital heart malformations are a leading cause of death among pediatric patients and often require surgical interventions within the first year of life. Increased efforts to navigate the human genome provide an opportunity to discover multiple candidate genes in patients suffering from birth defects. These efforts, however, fail to provide an explanation regarding the mechanisms of disease pathogenesis and emphasize the need for an efficient platform to screen candidate genes. Xenopus is a rapid, cost effective, high-throughput vertebrate organism to model the mechanisms behind human disease. This review provides numerous examples describing the successful use of Xenopus to investigate the contribution of patient mutations to complex phenotypes including congenital heart disease and heterotaxy. Moreover, we describe a variety of unique methods that allow us to rapidly recapitulate patients' phenotypes in frogs: gene knockout and knockdown strategies, the use of fate maps for targeted manipulations, and novel imaging modalities. The combination of patient genomics data and the functional studies in Xenopus will provide necessary answers to the patients suffering from birth defects. Furthermore, it will allow for the development of better diagnostic methods to ensure early detection and intervention. Finally, with better understanding of disease pathogenesis, new treatment methods can be tailored specifically to address patient's phenotype and genotype.
Abu-Issa,
Patterning of the heart field in the chick.
2008, Pubmed
Abu-Issa,
Patterning of the heart field in the chick.
2008,
Pubmed
Afouda,
GATA transcription factors integrate Wnt signalling during heart development.
2008,
Pubmed
,
Xenbase
Amaya,
Production of transgenic Xenopus laevis by restriction enzyme mediated integration and nuclear transplantation.
2010,
Pubmed
,
Xenbase
Amula,
Heterotaxy syndrome: impact of ventricular morphology on resource utilization.
2014,
Pubmed
Aslan,
High-efficiency non-mosaic CRISPR-mediated knock-in and indel mutation in F0 Xenopus.
2017,
Pubmed
,
Xenbase
Beck,
The nuclear pore complex: understanding its function through structural insight.
2017,
Pubmed
Bhattacharya,
CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus.
2015,
Pubmed
,
Xenbase
Blitz,
Navigating the Xenopus tropicalis genome.
2012,
Pubmed
,
Xenbase
Blitz,
Biallelic genome modification in F(0) Xenopus tropicalis embryos using the CRISPR/Cas system.
2013,
Pubmed
,
Xenbase
Blum,
Xenopus, an ideal model system to study vertebrate left-right asymmetry.
2009,
Pubmed
,
Xenbase
Boskovski,
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality.
2013,
Pubmed
,
Xenbase
Brueckner,
Heterotaxia, congenital heart disease, and primary ciliary dyskinesia.
2007,
Pubmed
Chae,
Inducible control of tissue-specific transgene expression in Xenopus tropicalis transgenic lines.
2002,
Pubmed
,
Xenbase
Chen,
Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning.
2019,
Pubmed
Christine,
Vertebrate CASTOR is required for differentiation of cardiac precursor cells at the ventral midline.
2008,
Pubmed
,
Xenbase
Corkins,
Transgenic Xenopus laevis Line for In Vivo Labeling of Nephrons within the Kidney.
2018,
Pubmed
,
Xenbase
Davis,
The chirality of gut rotation derives from left-right asymmetric changes in the architecture of the dorsal mesentery.
2008,
Pubmed
Del Viso,
Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.
2016,
Pubmed
,
Xenbase
Deniz,
Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography.
2017,
Pubmed
,
Xenbase
Fagotto,
Looking beyond the Wnt pathway for the deep nature of β-catenin.
2013,
Pubmed
Fakhro,
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.
2011,
Pubmed
,
Xenbase
Funayama,
Embryonic axis induction by the armadillo repeat domain of beta-catenin: evidence for intracellular signaling.
1995,
Pubmed
,
Xenbase
Gessert,
Comparative gene expression analysis and fate mapping studies suggest an early segregation of cardiogenic lineages in Xenopus laevis.
2009,
Pubmed
,
Xenbase
Grant,
The Xenopus ORFeome: A resource that enables functional genomics.
2015,
Pubmed
,
Xenbase
Gregory,
Trends in fetal and perinatal mortality in the United States, 2006-2012.
2014,
Pubmed
Griffin,
RAPGEF5 Regulates Nuclear Translocation of β-Catenin.
2018,
Pubmed
,
Xenbase
Hagen,
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
2016,
Pubmed
Hamada,
Mechanisms of left-right asymmetry and patterning: driver, mediator and responder.
2014,
Pubmed
Harden,
Increased postoperative respiratory complications in heterotaxy congenital heart disease patients with respiratory ciliary dysfunction.
2014,
Pubmed
Hellsten,
The genome of the Western clawed frog Xenopus tropicalis.
2010,
Pubmed
,
Xenbase
Hirsch,
Xenopus tropicalis transgenic lines and their use in the study of embryonic induction.
2002,
Pubmed
,
Xenbase
Huang,
Optical coherence tomography.
1991,
Pubmed
Hurt,
Towards understanding nuclear pore complex architecture and dynamics in the age of integrative structural analysis.
2015,
Pubmed
Jin,
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
2017,
Pubmed
Kawasumi,
Left-right asymmetry in the level of active Nodal protein produced in the node is translated into left-right asymmetry in the lateral plate of mouse embryos.
2011,
Pubmed
Khokha,
Xenopus white papers and resources: folding functional genomics and genetics into the frog.
2012,
Pubmed
,
Xenbase
Kominami,
The initiator caspase, caspase-10beta, and the BH-3-only molecule, Bid, demonstrate evolutionary conservation in Xenopus of their pro-apoptotic activities in the extrinsic and intrinsic pathways.
2006,
Pubmed
,
Xenbase
Kulkarni,
WDR5 regulates left-right patterning via chromatin-dependent and -independent functions.
2018,
Pubmed
,
Xenbase
Kurpios,
The direction of gut looping is established by changes in the extracellular matrix and in cell:cell adhesion.
2008,
Pubmed
Lee,
Morphogenesis of the node and notochord: the cellular basis for the establishment and maintenance of left-right asymmetry in the mouse.
2008,
Pubmed
Marino,
Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association.
2012,
Pubmed
Marquez,
Nucleoporin NUP205 plays a critical role in cilia and congenital disease.
2021,
Pubmed
,
Xenbase
Marsh-Armstrong,
Germ-line transmission of transgenes in Xenopus laevis.
1999,
Pubmed
,
Xenbase
McGrath,
Two populations of node monocilia initiate left-right asymmetry in the mouse.
2003,
Pubmed
Mohun,
The morphology of heart development in Xenopus laevis.
2000,
Pubmed
,
Xenbase
Moody,
Fates of the blastomeres of the 32-cell-stage Xenopus embryo.
1987,
Pubmed
,
Xenbase
Murata,
Expression of the congenital heart disease 5/tryptophan rich basic protein homologue gene during heart development in medaka fish, Oryzias latipes.
2009,
Pubmed
Murphy,
Annual Summary of Vital Statistics: 2013-2014.
2017,
Pubmed
Mussatto,
Risk Factors for Abnormal Developmental Trajectories in Young Children With Congenital Heart Disease.
2015,
Pubmed
NULL,
2006,
Pubmed
Nieuwkoop,
The formation of the mesoderm in urodelean amphibians : I. Induction by the endoderm.
1969,
Pubmed
Nonaka,
Determination of left-right patterning of the mouse embryo by artificial nodal flow.
2002,
Pubmed
Ny,
A transgenic Xenopus laevis reporter model to study lymphangiogenesis.
2013,
Pubmed
,
Xenbase
Offield,
The development of Xenopus tropicalis transgenic lines and their use in studying lens developmental timing in living embryos.
2000,
Pubmed
,
Xenbase
Okada,
Mechanism of nodal flow: a conserved symmetry breaking event in left-right axis determination.
2005,
Pubmed
Rankin,
New doxycycline-inducible transgenic lines in Xenopus.
2011,
Pubmed
,
Xenbase
Rigler,
Novel copy-number variants in a population-based investigation of classic heterotaxy.
2015,
Pubmed
Robson,
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.
2019,
Pubmed
,
Xenbase
Rout,
Pore relations: nuclear pore complexes and nucleocytoplasmic exchange.
2000,
Pubmed
Schneider,
Wnt antagonism initiates cardiogenesis in Xenopus laevis.
2001,
Pubmed
,
Xenbase
Schweickert,
The nodal inhibitor Coco is a critical target of leftward flow in Xenopus.
2010,
Pubmed
,
Xenbase
Schwenty-Lara,
Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis.
2019,
Pubmed
,
Xenbase
Showell,
Decoding development in Xenopus tropicalis.
2007,
Pubmed
,
Xenbase
Smith,
The MLC1v gene provides a transgenic marker of myocardium formation within developing chambers of the Xenopus heart.
2005,
Pubmed
,
Xenbase
Sojka,
Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity.
2014,
Pubmed
,
Xenbase
Spemann,
Induction of embryonic primordia by implantation of organizers from a different species. 1923.
2001,
Pubmed
Stalsberg,
The precardiac areas and formation of the tubular heart in the chick embryo.
1969,
Pubmed
Stillbirth Collaborative Research Network Writing Group,
Causes of death among stillbirths.
2011,
Pubmed
Suzuki,
In vivo tracking of histone H3 lysine 9 acetylation in Xenopus laevis during tail regeneration.
2016,
Pubmed
,
Xenbase
Tabin,
A two-cilia model for vertebrate left-right axis specification.
2003,
Pubmed
Takeuchi,
Directed transdifferentiation of mouse mesoderm to heart tissue by defined factors.
2009,
Pubmed
Tran,
Wnt/beta-catenin signaling is involved in the induction and maintenance of primitive hematopoiesis in the vertebrate embryo.
2010,
Pubmed
,
Xenbase
Vick,
Flow on the right side of the gastrocoel roof plate is dispensable for symmetry breakage in the frog Xenopus laevis.
2009,
Pubmed
,
Xenbase
Vishnoi,
Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication.
2020,
Pubmed
Vonica,
The left-right axis is regulated by the interplay of Coco, Xnr1 and derrière in Xenopus embryos.
2007,
Pubmed
,
Xenbase
Waitzman,
Estimates of the economic costs of birth defects.
1994,
Pubmed
Wallingford,
Xenopus.
2010,
Pubmed
,
Xenbase
Warkman,
Xenopus as a model system for vertebrate heart development.
2007,
Pubmed
,
Xenbase
Warnes,
Task force 1: the changing profile of congenital heart disease in adult life.
2001,
Pubmed
Xu,
Deaths: Final Data for 2016.
2018,
Pubmed
Yoon,
Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study.
1997,
Pubmed
Zhu,
Genetics of human heterotaxias.
2006,
Pubmed
van der Bom,
The changing epidemiology of congenital heart disease.
2011,
Pubmed
van der Linde,
Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis.
2011,
Pubmed
