CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis

Methods in Molecular Biology
Engin DenizMustafa K Khokha

Abstract

In the US and Europe, birth defects are the leading cause of infant mortality. Among birth defects, Congenital Heart Disease (CHD) occurs in approximately 8 out of 1000 live births, affects 1.3 million newborns per year worldwide, and has the highest mortality rate. While there is evidence to indicate that CHD does have a genetic basis, most of the CHD burden remains unexplained genetically. Fortunately, new genomics technologies are enabling genetic analyses of CHD patients. Whole exome sequencing of trios as well as copy number variations assayed by high-density SNP arrays can now be obtained at high efficiency and relatively low cost. These efforts are identifying a number of sequence variations in patients with CHD, but only a small percentage have second unrelated alleles to validate them as disease causing. Importantly, most of these candidate genes do not have an identified molecular mechanism implicating them in cardiac development. Therefore, there is a pressing need to develop rapid functional assays to evaluate candidate genes for a role in cardiac development, and then to investigate the underlying developmental mechanisms. Most recently, the advent of CRISPR/Cas9 genome editing technology has greatly enhanced the a...Continue Reading

Citations

Jun 30, 2019·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Anneke Kakebeen, Andrea Wills
Sep 7, 2019·PLoS Biology·Joel D FederspielFrank L Conlon
Nov 27, 2019·Cold Spring Harbor Perspectives in Biology·Stefan Hoppler, Frank L Conlon
Dec 20, 2019·Lab Animal·Ellen P Neff
Feb 11, 2020·Frontiers in Physiology·Maicon Landim-VieiraJose Renato Pinto
Jan 7, 2020·The Journal of Clinical Investigation·Jonathan MarquezMustafa K Khokha
Feb 13, 2021·Genesis : the Journal of Genetics and Development·Venkatramanan G Rao, Saurabh S Kulkarni
Dec 29, 2020·Genesis : the Journal of Genetics and Development·Cameron R T Exner, Helen Rankin Willsey

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