Biochemical analysis of the G517V POLG variant reveals wild-type like activity

Mitochondrion

Volumn 11, Issue 6, 2011, Pages 929-934

  Kasiviswanathan, Rajesh ^a   Copeland, William C ^a  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

Author keywords

DNA polymerase; Mitochondrial disease; POLG

Indexed keywords

DNA; DNA DIRECTED DNA POLYMERASE GAMMA; GLYCINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DNA BINDING; ENZYME ACTIVITY; ENZYME ASSAY; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; MUTANT; POLG GENE; PRIORITY JOURNAL; WILD TYPE;

AMINO ACID SUBSTITUTION; DNA; DNA-DIRECTED DNA POLYMERASE; GLYCINE; HUMANS; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN INTERACTION MAPPING; VALINE;

EID: 82755197808     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2011.08.003     Document Type: Article

References (29)

1. Blok M.J., Van den Bosch B.J., Jongen E., Hendrickx A., de Die-Smulders C.E., Hoogendijk J.E., Brusse E., de Visser M., Poll-The B.T., Bierau J., de Coo I.F., Smeets H.J. The unfolding clinical spectrum of POLG mutations. J. Med. Genet. 2009, 46:776-785.
2. Bolszak M., Anttonen A.K., Komulainen T., Hinttala R., Pakanen S., Sormunen R., Herva R., Lehesjoki A.E., Majamaa K., Rantala H., Uusimaa J. Digenic mutations in severe myoclonic epilepsy of infancy. Epilepsy Res. 2009, 85:300-304.
3. Burusnukul P., de los Reyes E.C. Phenotypic variations in 3 children with POLG1 mutations. J. Child Neurol. 2009, 24:482-486.
4. Chan S.S.L., Longley M.J., Copeland W.C. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J. Biol. Chem. 2005, 280:31341-31346.
5. Chan S.S.L., Longley M.J., Copeland W.C. Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphism in mitochondrial disorders. Hum. Mol. Genet. 2006, 15:3473-3483.
6. Graziewicz M.A., Longley M.J., Bienstock R.J., Zeviani M., Copeland W.C. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat. Struct. Mol. Biol. 2004, 11:770-776.
7. Graziewicz M.A., Longley M.J., Copeland W.C. DNA polymerase gamma in mitochondrial DNA replication and repair. Chem. Rev. 2006, 106:383-405.
8. Hopkins S.E., Somoza A., Gilbert D.L. Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease. J. Child Neurol. 2010, 25:752-756.
9. Horvath R., Hudson G., Ferrari G., Futterer N., Ahola S., Lamantea E., Prokisch H., Lochmuller H., McFarland R., Ramesh V., Klopstock T., Freisinger P., Salvi F., Mayr J.A., Santer R., Tesarova M., Zeman J., Udd B., Taylor R.W., Turnbull D., Suomalainen A., Zeviani M., Chinnery P.F. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006, 129:1674-1684.
10. Kaguni L.S. DNA polymerase gamma, the mitochondrial replicase. Annu. Rev. Biochem. 2004, 73:293-320.
11. Kasiviswanathan R., Longley M.J., Chan S.S., Copeland W.C. Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in MtDNA replication. J. Biol. Chem. 2009, 284:19501-19510.
12. Kasiviswanathan R., Longley M.J., Young M.J., Copeland W.C. Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. Methods 2010, 51:379-384.
13. Lee Y.S., Kennedy W.D., Yin Y.W. Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations. Cell 2009, 139:312-324.
14. Lim S.E., Copeland W.C. Differential incorporation and removal of antiviral deoxynucleotides by human DNA polymerase gamma. J. Biol. Chem. 2001, 276:23616-23623.
15. Lim S.E., Longley M.J., Copeland W.C. The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance. J. Biol. Chem. 1999, 274:38197-38203.
16. Lim S.E., Ponamarev M.V., Longley M.J., Copeland W.C. Structural determinants in human DNA polymerase gamma account for mitochondrial toxicity from nucleoside analogs. J. Mol. Biol. 2003, 329:45-57.
17. Longley M.J., Ropp P.A., Lim S.E., Copeland W.C. Characterization of the native and recombinant catalytic subunit of human DNA polymerase gamma: identification of residues critical for exonuclease activity and dideoxynucleotide sensitivity. Biochemistry 1998, 37:10529-10539.
18. Longley M.J., Clark S., Yu Wai Man C., Hudson G., Durham S.E., Taylor R.W., Nightingale S., Turnbull D.M., Copeland W.C., Chinnery P.F. Mutant POLG2 disrupts DNa polymerase gamma subunits and causes progressive external ophthalmoplegia. Am. J. Hum. Genet. 2006, 78:1026-1034.
19. Lucas P., Lasserre J.P., Plissonneau J., Castroviejo M. Absence of accessory subunit in the DNA polymerase gamma purified from yeast mitochondria. Mitochondrion 2004, 4:13-20.
20. Naviaux R.K., Nguyen K.V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann. Neurol. 2004, 55:706-712.
21. Rivera H., Merinero B., Martinez-Pardo M., Arroyo I., Ruiz-Sala P., Bornstein B., Serra-Suhe C., Gallardo E., Marti R., Moran M.J., Ugalde C., Perez-Jurado L.A., Andreu A.L., Garesse R., Ugarte M., Arenas J., Martin M.A. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. Mitochondrion 2010, 10:362-368.
22. Ropp P.A., Copeland W.C. Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. Genomics 1996, 36:449-458.
23. Saneto R.P., Naviaux R.K. Polymerase gamma disease through the ages. Dev. Disabil. Res. Rev. 2010, 16:163-174.
24. Sarzi E., Bourdon A., Chretien D., Zarhrate M., Corcos J., Slama A., Cormier-Daire V., de Lonlay P., Munnich A., Rotig A. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J. Pediatr. 2007, 150:531-534. 534 e531-536.
25. Schulte C., Synofzik M., Gasser T., Schols L. Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 2009, 73:898-900.
26. Stumpf J.D., Copeland W.C. Mitochondrial DNA replication and disease: insights from DNA polymerase gamma mutations. Cell. Mol. Life Sci. 2011, 68:219-233.
27. Van Goethem G., Dermaut B., Lofgren A., Martin J.J., Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 2001, 28:211-212.
28. Van Goethem G., Martin J.J., Dermaut B., Lofgren A., Wibail A., Ververken D., Tack P., Dehaene I., Van Zandijcke M., Moonen M., Ceuterick C., De Jonghe P., Van Broeckhoven C. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul. Disord. 2003, 13:133-142.
29. Wong L.J., Naviaux R.K., Brunetti-Pierri N., Zhang Q., Schmitt E.S., Truong C., Milone M., Cohen B.H., Wical B., Ganesh J., Basinger A.A., Burton B.K., Swoboda K., Gilbert D.L., Vanderver A., Saneto R.P., Maranda B., Arnold G., Abdenur J.E., Waters P.J., Copeland W.C. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum. Mutat. 2008, 29:E150-E172.