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."
Showing posts with label Peroxisomal biogenesis disorder. Show all posts
Showing posts with label Peroxisomal biogenesis disorder. Show all posts
Monday, December 2, 2019
Tuesday, October 2, 2012
Inventory of fly peroxisomal proteins. Links to diseases. Recent report.
This recent paper catalogs fly peroxisomal proteins.
Faust JE, Verma A, Peng C, McNew JA. An Inventory of Peroxisomal Proteins and Pathways in Drosophila melanogaster. Traffic. 2012 Oct;13(10):1378-92. doi: 10.1111/j.1600-0854.2012.01393.x. PubMed PMID: 22758915; PubMed Central PMCID: PMC3443258.
Disruption of peroxisomal-related factors in humans can cause peroxisomal biogenesis disorders such as Zellweger syndrome. Additional relevant disease terms include peroxisomal acyl-CoA oxidase deficiency, rhizomelic chondrodysplasia punctata, Refsum disease, and neonatal adrenoleukodystrophy. You can read about peroxisomal biogenesis disorders at Gene Reviews (includes information about human disease-associated genes).
Evolutionary conservation? The answer appears to be yes. From the paper, "We have identified all of the major vertebrate peroxisomal pathways in Drosophila."
At least these three papers discuss fly models of peroxisomal biogenesis disorders.
Mast FD, Li J, Virk MK, Hughes SC, Simmonds AJ, Rachubinski RA. A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. Dis Model Mech. 2011 Sep-Oct;4(5):659-72. doi: 10.1242/dmm.007419. PubMed PMID: 21669930; PubMed Central PMCID: PMC3180231.
Nakayama M, Sato H, Okuda T, Fujisawa N, Kono N, Arai H, Suzuki E, Umeda M, Ishikawa HO, Matsuno K. Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. PLoS One. 2011;6(8):e22984. PubMed PMID: 21826223; PubMed Central PMCID: PMC3149631.
Chen H, Liu Z, Huang X. Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. Hum Mol Genet. 2010 Feb 1;19(3):494-505. PubMed PMID: 19933170.
Faust JE, Verma A, Peng C, McNew JA. An Inventory of Peroxisomal Proteins and Pathways in Drosophila melanogaster. Traffic. 2012 Oct;13(10):1378-92. doi: 10.1111/j.1600-0854.2012.01393.x. PubMed PMID: 22758915; PubMed Central PMCID: PMC3443258.
Disruption of peroxisomal-related factors in humans can cause peroxisomal biogenesis disorders such as Zellweger syndrome. Additional relevant disease terms include peroxisomal acyl-CoA oxidase deficiency, rhizomelic chondrodysplasia punctata, Refsum disease, and neonatal adrenoleukodystrophy. You can read about peroxisomal biogenesis disorders at Gene Reviews (includes information about human disease-associated genes).
Evolutionary conservation? The answer appears to be yes. From the paper, "We have identified all of the major vertebrate peroxisomal pathways in Drosophila."
At least these three papers discuss fly models of peroxisomal biogenesis disorders.
Mast FD, Li J, Virk MK, Hughes SC, Simmonds AJ, Rachubinski RA. A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. Dis Model Mech. 2011 Sep-Oct;4(5):659-72. doi: 10.1242/dmm.007419. PubMed PMID: 21669930; PubMed Central PMCID: PMC3180231.
Nakayama M, Sato H, Okuda T, Fujisawa N, Kono N, Arai H, Suzuki E, Umeda M, Ishikawa HO, Matsuno K. Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. PLoS One. 2011;6(8):e22984. PubMed PMID: 21826223; PubMed Central PMCID: PMC3149631.
Chen H, Liu Z, Huang X. Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. Hum Mol Genet. 2010 Feb 1;19(3):494-505. PubMed PMID: 19933170.
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