Bifunctional polynucleotide phosphatase/kinase is anenzyme that in humans is encoded by thePNKPgene.[5][6][7] A detailed structural study of the crystallized mouse protein examined both the 5´-polynucleotide kinase and 3’-polynucleotide phosphatase activities.[8] Additional features of the peptide sequence include a forkhead association (FHA) domain, ATP binding site and nuclear and mitochondrial localization sequences.
The human gene encoding PNKP was observed to be mutated in patients[11][12][13][14] with microcephaly, seizures and defects in DNA repair. A type of recessive ataxia is also associated with PNKP mutations.[15] There are also newly characterized pathological variants of PNKP.[16] Model organisms such as mice andDrosophila have been used to generate further insights.[17][18]
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Audebert M, Salles B, Weinfeld M, Calsou P (2006). "Involvement of polynucleotide kinase in a poly(ADP-ribose) polymerase-1-dependent DNA double-strand breaks rejoining pathway".J. Mol. Biol.356 (2):257–65.doi:10.1016/j.jmb.2005.11.028.PMID16364363.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007)."Large-scale mapping of human protein-protein interactions by mass spectrometry".Mol. Syst. Biol.3 (1): 89.doi:10.1038/msb4100134.PMC1847948.PMID17353931.
