Glutathione-S-transferase-omega [MMA(V) reductase] knockout mice: Enzyme and arsenic species concentrations in tissues after arsenate administration☆

Chowdhury, Uttam Kumar; Zakharyan, Roksana; Hernández, Alba; Avram, Mihaela D.; Kopplin, Michael J.; Aposhian, H. Vasken

doi:10.1016/j.taap.2006.06.014

Cited by 79 publications

(70 citation statements)

References 64 publications

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“…[22][23][24] The third mutation was a mutation in CWF19L1 in an obligatory splice site (c.96411G.A, i.e., the first base of intron 9, always G, is changed to an A; figure 1D). Sanger sequencing confirmed this mutation in the affected siblings and demonstrated that it is absent in 200 Turkish individuals without neurologic disorder.…”

Section: Results Exome Sequencing Identifies Mutation Inmentioning

confidence: 99%

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

Burns

Majczenko

et al. 2014

Neurology

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Objective: To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.Methods: Whole-exome sequencing was combined with homozygosity mapping, linkage, and expression analysis to identify candidate genes, confirmed by Sanger sequencing. Reverse transcription-PCR and immunoblotting were used to determine the functional consequences of the gene variant. A zebrafish model was developed using morpholino-mediated knockdown.Results: We identified a homozygous mutation at the invariant 11 position (c.96411G.A) in intron 9 of the CWF19L1 (complexed with cdc5 protein 19-like 1) gene. This mutation is absent in .6,500 European and African American individuals and 200 Turkish control DNAs. The mutation causes exon skipping, reduction in messenger RNA levels, and protein loss in cell lines of affected individuals. Morpholino-mediated knockdown in a zebrafish model demonstrates that loss of the evolutionarily highly conserved CWF19L1, whose normal biological function is unknown, alters cerebellar morphology and causes movement abnormalities. Conclusions:Our results suggest that CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay. Our research may help with diagnosis, especially in Turkey, identify causes of other ataxias, and may lead to novel therapies. Neurology ® 2014;83:2175-2182 GLOSSARY CWF19L1 5 complexed with cdc5 protein 19-like 1; GAPDH 5 glyceraldehyde 3-phosphate dehydrogenase; LCL 5 lymphoblastoid cell line; MO 5 morpholino oligonucleotide; mRNA 5 messenger RNA; qRT 5 quantitative reverse transcription.

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Section: Results Exome Sequencing Identifies Mutation Inmentioning

confidence: 99%

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

Burns

Majczenko

et al. 2014

Neurology

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“…Recently, GSTOs were shown to scavenge free radicals and ROS by modulating dehydroascorbate reduction and recycling (Rice 2000;Burmeister et al 2008). GSTOs also participate in the biotransformation pathway of inorganic arsenic metabolism, which protects organisms from acute and chronic arsenic toxicosis (Chowdhury et al 2006). There is increasing evidence that GSTOs are involved in various biological and clinically significant settings, including drug resistance (Yin et al 2005), Alzheimer's disease (Li et al 2003), the action of anti-inflammatory drugs (Laliberte et al 2003), and susceptibility to chronic obstructive pulmonary disease (COPD) (Dulhunty et al 2001).…”

Section: Introductionmentioning

confidence: 99%

A novel Omega-class glutathione S-transferase gene in Apis cerana cerana: molecular characterisation of GSTO2 and its protective effects in oxidative stress

Zhang

Yan

et al. 2013

Cell Stress and Chaperones

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Oxidative stress may be the most significant threat to the survival of living organisms. Glutathione S-transferases (GSTs) serve as the primary defences against xenobiotic and peroxidative-induced oxidative damage. In contrast to other well-defined GST classes, the Omega-class members are poorly understood, particularly in insects. Here, we isolated and characterised the GSTO2 gene from Apis cerana cerana (AccGSTO2). The predicted transcription factor binding sites in the AccGSTO2 promoter suggested possible functions in early development and antioxidant defence. Real-time quantitative PCR (qPCR) and western blot analyses indicated that AccGSTO2 was highly expressed in larvae and was predominantly localised to the brain tissue in adults. Moreover, AccGSTO2 transcription was induced by various abiotic stresses. The purified recombinant AccGSTO2 exhibited glutathione-dependent dehydroascorbate reductase and peroxidase activities. Furthermore, it could prevent DNA damage. In addition, Escherichia coli overexpressing AccGSTO2 displayed resistance to long-term oxidative stress exposure in disc diffusion assays. Taken together, these results suggest that AccGSTO2 plays a protective role in counteracting oxidative stress.

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“…This enzyme had considerable sequence homology to glutathione-S-transferase omega (GSTO) (Zakharyan et al, 2001), suggesting that reduction of MMA(V) was a function of GSTO. However, studies in GSTO knockout mice found no effect of the null genotype on the disposition and metabolism of arsenicals in tissues after treatment with inorganic As(V) (Chowdhury et al, 2006).…”

Section: Reduction Of As(v)mentioning

confidence: 99%

Toxicology and Epidemiology of Arsenic and its Compounds

Hughes

Thomas

Kenyon

2009

Arsenic

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Glutathione-S-transferase-omega [MMA(V) reductase] knockout mice: Enzyme and arsenic species concentrations in tissues after arsenate administration☆

Cited by 79 publications

References 64 publications

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

A novel Omega-class glutathione S-transferase gene in Apis cerana cerana: molecular characterisation of GSTO2 and its protective effects in oxidative stress

Toxicology and Epidemiology of Arsenic and its Compounds

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