Graves HK, Jangam S, Tan KL, Pignata A, Seto ES, Yamamoto S, Wangler MF. A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. G3 (Bethesda). 2019 Nov 25. pii: g3.400803.2019. PMID: 31767637.
From the abstract: "Peroxisomes are subcellular organelles that are essential for proper function of eukaryotic cells. In addition to being the sites of a variety of oxidative reactions, they are crucial regulators of lipid metabolism. Peroxisome loss or dysfunction leads to multi-system diseases in humans that strongly affect the nervous system. In order to identify previously unidentified genes and mechanisms that impact peroxisomes, we conducted a genetic screen ... Using the number, size and morphology of GFP tagged peroxisomes as a readout, we screened for mutations that altered peroxisomes ... we identified eighteen genes that cause increases in peroxisome number or altered morphology when mutated. We examined the human homologs of these genes and found that they are involved in a diverse array of cellular processes. Interestingly, the human homologs ... are good candidate genes particularly for dominant genetic disease. This in vivo screening approach for peroxisome defects allows identification of novel genes that impact peroxisomes ... and is a valuable platform to discover genes potentially involved in dominant disease that could affect peroxisomes."
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