Establishment of a stable transgenic g6pdM1315-1443 zebrafish line with glucose-6-phosphate dehydrogenase deficiency

biorxiv(2020)

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摘要
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzymopathy in humans and is associated with a predisposition to hemolysis. However, there are few animal models to that adequately mimic associated human disease states that could be used to evaluate strategies to address clinical syndromes attributable to G6PD deficiency. In the present study, we aimed to establish a stable transgenic zebrafish model of G6PD deficiency that recapitulates the clinical manifestations of G6PD deficiency. We incorporated a stable transgene of G6PD lacking nucleotides from 1315 to 1443 denoted Tg ( zgata1:g6pd M1315-1443 - egfp ). Functional analysis showed that Tg ( zgata1:g6pd M1315-1443 - egfp ) transgenic zebrafish demonstrate a decrease in g6pd activity, reduced GSH levels and hemoglobin content, and increases in pericardial edema in response to α-naphthol exposure, similar to human subjects with G6PD deficiency. We detected no other significant phenotypic abnormalities compared to controls. Taken together, these observations indicate that the Tg ( zgata1:g6pd M1315-1443 - egfp ) zebrafish line mirrors key clinical manifestations of G6PD deficiency in humans. This model may facilitate mechanistic studies and promote translational research related to G6PD deficiency. ### Competing Interest Statement The authors have declared no competing interest.
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关键词
Glucose-6-phosphate dehydrogenase deficiency,zebrafish,disease model
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