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Literature summary for 2.7.6.1 extracted from

  • Pei, W.; Xu, L.; Varshney, G.K.; Carrington, B.; Bishop, K.; Jones, M.; Huang, S.C.; Idol, J.; Pretorius, P.R.; Beirl, A.; Schimmenti, L.A.; Kindt, K.S.; Sood, R.; Burgess, S.M.
    Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases (2016), Sci. Rep., 6, 29946 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.6.1

Organism

Organism UniProt Comment Textmining
Danio rerio Q08CA5 isoform Prps1b
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Danio rerio Q4KME9 isoform Prps1a
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Source Tissue

Source Tissue Comment Organism Textmining
brain high expression level in embryonic brain Danio rerio
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ear high expression level in inner ear Danio rerio
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embryo high expression level in embryonic brain Danio rerio
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hematopoietic system high expression level in caudal hematopoietic tissue Danio rerio
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additional information isoform Prps1b displays a low level of expression at 1 hour post fertilization. A dramatic increase of expression is detected from 5 h post fertilization. The expression decreases and is maintained at a lower level until at 40 days post fertilization as the fish enter a juvenile age Danio rerio
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additional information isoform Prps1b displays a modest change in the level of expression with the highest expression detected at 1 h post fertilization and a lower level present and maintained at other ages Danio rerio
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Synonyms

Synonyms Comment Organism
Prps1a
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 Danio rerio
Prps1b
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 Danio rerio

General Information

General Information Comment Organism
physiological function isoform Prps1a mutants display defects in the eye, the neuromast hair cells, and in pigmentation. Isoforms Prps1a/Prps1B double mutants at 5 days post fertilization have dysmorphic craniofacial features and very small eyes. Beyond the reduction in iridophores seen in the Prps1a homozygous mutants, the double mutants also display a reduction of melanocytes in both the head and the eyes late the first day after fertilization. The double mutant shows a dramatic reduction in body size with the majority of fish having a life span shorter than 40 days. Double mutant fish diplay a reduced number of inner ear hair cells and abnormal motor neuron development Danio rerio
physiological function isoform Prps1b mutants show no overt phenotype. Mutant fish survive to adulthood, have a normal life span, and are able to normally reproduce. Isoforms Prps1a/Prps1B double mutants at 5 days post fertilization have dysmorphic craniofacial features and very small eyes. Beyond the reduction in iridophores seen in the Prps1a homozygous mutants, the double mutants also display a reduction of melanocytes in both the head and the eyes late the first day after fertilization. The double mutant shows a dramatic reduction in body size with the majority of fish having a life span shorter than 40 days. Double mutant fish diplay a reduced number of inner ear hair cells and abnormal motor neuron development Danio rerio