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Identification of ubiad1 as a gene involved in cardiovascular homeostasis and development

Abstract

Cardiovascular disease is a major cause of morbidity and mortality throughout the world. However, many of the genetic factors rendering humans susceptible to these diseases are still largely unknown. In order to identify novel genes related to vertebrate cardiovascular development and disease, many forward genetic screens have been carried out utilizing zebrafish as a model organism. In 2007, a screen for vascular integrity defects identified a cerebrovascular hemorrhage mutant named reddishs587(Jin et al., 2007). Using confocal microscopy we determined that the reddish mutant's hemorrhaging was likely caused by cerebrovascular dysgenesis and regression. Furthermore, we discovered that reddish mutants exhibit a previously unreported cardiac phenotype, characterized by ventricular failure by 72 hours post fertilization. Using positional cloning, we identified the reddish defect as a T-to-A missense mutation in ubiad1. Although heterozygous mutations in UBIAD1 have been discovered, this is the first report showing the implications of homozygous mutations. Moreover, the cardiovascular phenotype in the reddish mutants provides the first evidence of ubiad1s role in the heart and vascular system. Lastly, the expression of UBIAD1 in both embryonic zebrafish hearts and human fetal heart, could suggest that UBIAD1 has a conserved cardiac function amongst vertebrates. Although the molecular role for UBIAD1 in the cardiovascular system has not been established, this study demonstrates that UBIAD1 is necessary for its proper functioning

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