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Literature summary for 2.7.1.78 extracted from

  • Shimada, M.; Dumitrache, L.C.; Russell, H.R.; McKinnon, P.J.
    Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability (2015), EMBO J., 34, 2465-2480 .
    View publication on PubMedView publication on EuropePMC
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Organism

Organism UniProt Comment Textmining
Mus musculus Q9JLV6 bifunctional polynucleotide phosphatase/kinase, cf. 3.1.3.32
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General Information

General Information Comment Organism
physiological function mice with PNKP inactivation in neural progenitors manifest neurodevelopmental abnormalities and postnatal death. The phenotype involves defective base excision repair and nonhomologous end-joining. Mice homozygous for the T424GfsX48 frame-shift allele are lethal embryonically, and attenuated PNKP levels akin to microcephaly with seizures syndrome show general neurodevelopmental defects. Directed postnatal neural inactivation of PNKP affects specific subpopulations including oligodendrocytes Mus musculus