Mitochondrial disorders associated with the mitochondrial DNA polymerase g: A focus on intersubunit interactions

Mitochondrial Disorders Caused by Nuclear Genes

Volumn 9781461437222, Issue , 2013, Pages 49-72

  Young, Matthew J ^a   Copeland, William C ^a  

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

Author keywords

Alpers Huttenlocker syndrome cid:3413544705 20626302 cid:3413544705 20605107 ; Mitochondrial DNA depletion syndrome; Mitochondrial DNA polymerase; Mitochondrial DNA replication; POLG; POLG2; Progressive external ophthalmoplegia

Indexed keywords

EID: 84940665968     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4614-3722-2_3     Document Type: Chapter

References (68)

1. Kukat C, Wurm CA, Spahr H, Falkenberg M, Larsson NG, Jakobs S (2011) Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA. Proc Natl Acad Sci U S A 108:13534-13539
2. Brown TA, Tkachuk AN, Shtengel G et al (2011) Super-resolution fluorescence imaging of mitochondrial nucleoids reveals their spatial range, limits, and membrane interaction. Mol Cell Biol 31(24):4994-5010
3. Hance N, Ekstrand MI, TrifunovicA(2005) MitochondrialDNApolymerasegammais essential for mammalian embryogenesis. Hum Mol Genet 14:1775-1783
4. Spelbrink JN, Toivonen JM, Hakkaart GA et al (2000) In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells. J Biol Chem 275:24818-24828
5. Garrido N, Griparic L, Jokitalo E, Wartiovaara J, Van Der Bliek AM, Spelbrink JN (2003) Composition and dynamics of human mitochondrial nucleoids. Mol Biol Cell 14:1583-1596
6. Di Re M, Sembongi H, He J et al (2009) The accessory subunit of mitochondrial DNA polymerase gamma determines the DNA content of mitochondrial nucleoids in human cultured cells. Nucleic Acids Res 37:5701-5713
7. Carrodeguas JA, Kobayashi R, Lim SE, Copeland WC, Bogenhagen DF (1999) The accessory subunit of xenopus laevis mitochondrial DNA polymerase gamma Increases processivity of the catalytic subunit of human DNA polymerase gamma and is related to class II aminoacyl-tRNA synthetases. Mol Cell Biol 19:4039-4046
8. Lim SE, Longley MJ, Copeland WC(1999) 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 274:38197-38203
9. Cohen BH, NaviauxRK(2010) The clinical diagnosis ofPOLGdisease and other mitochondrial DNA depletion disorders. Methods 51:364-373
10. Haas RH, Parikh S, Falk MJ et al (2007) Mitochondrial disease: A practical approach for primary care physicians. Pediatrics 120:1326-1333
11. Cohen BH, Chinnery PF, Copeland WC (2010) POLG-related disorders. Genereviews at genetests: Medical genetics information resource [database online]. Copyright, University ofWashington, Seattle, 1997-2010. http://www.genetests.org. Accessed 16 Mar 2010
12. Tang S, Wang J, Lee NC et al (2011) Mitochondrial DNA polymerase {gamma} mutations: an ever expanding molecular and clinical spectrum. J Med Genet 48:669-681
13. Young MJ, Longley MJ, Li FY, Kasiviswanathan R, Wong LJ, Copeland WC(2011) Biochemical analysis of human POLG2 variants associated with mitochondrial disease. Hum Mol Genet 20:3052-3066
14. Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28:211-212
15. Longley MJ, Humble MM, Sharief FS, Copeland WC(2010) Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis and helicase activity. J Biol Chem 285:29690-29702
16. Copeland WC (2008) Inherited mitochondrial diseases of DNA replication. Annu Rev Med 59:131-146
17. Farge G, Pham XH, Holmlund T, Khorostov I, Falkenberg M (2007) The accessory subunit B of DNA polymerase {gamma} is required for mitochondrial replisome function. Nucleic Acids Res 35:902-911
18. Li FY, Tariq M, Croxen R et al (1999) Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. Neurology 53:1265-1271
19. Spelbrink JN, Li FY, Tiranti V et al (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28:223-231
20. SuomalainenA, Kaukonen J, Amati P et al (1995)An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9:146-151
21. Stumpf JD, Copeland WC (2011) Mitochondrial DNA replication and disease: insights from DNA polymerase gamma mutations. Cell Mol Life Sci 68:219-233
22. Chan SS, Copeland WC (2009) DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. Biochim Biophys Acta 1787:312-319
23. Euro L, Farnum GA, Palin E, Suomalainen A, Kaguni LS (2011) Clustering of alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol {gamma}. Nucleic Acids Res 39(21):9072-9084
24. Carrodeguas JA, Pinz KG, Bogenhagen DF (2002) DNA Binding Properties of Human pol gamma B. J Biol Chem 277:50008-50014
25. Longley MJ, Clark S, Yu Wai, Man C et al (2006) Mutant POLG2 Disrupts DNA Polymerase gamma Subunits and Causes Progressive External Ophthalmoplegia.Am J Hum Genet 78:1026-1034
26. Fan L, Kim S, Farr CL et al (2006)A novel processive mechanism for DNA synthesis revealed by structure, modeling and mutagenesis of the accessory subunit of human mitochondrial DNA polymerase. J Mol Biol 358:1229-1243
27. Carrodeguas JA, Theis K, Bogenhagen DF, Kisker C (2001) Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer. Mol Cell 7:43-54
28. Fan L, Sanschagrin PC, Kaguni LS, Kuhn LA (1999) The accessory subunit of mtDNA polymerase shares structural homology with aminoacyl-tRNA synthetases: implications for a dual role as a primer recognition factor and processivity clamp. Proc Natl Acad Sci U S A 96:9527-9532
29. LeeYS, Kennedy WD, Yin YW (2009) Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations. Cell 139:312-324
30. Lee YS, Lee S, Demeler B, Molineux IJ, Johnson KA, Yin YW (2010) Each monomer of the dimeric accessory protein for human mitochondrial DNA polymerase has a distinct role in conferring processivity. J Biol Chem 285:1490-1499
31. Yakubovshaya E, Chen Z, Carrodeguas JA, Kisker C, BogenhagenDF(2006) Functional human mitochondrial DNA polymerase gamma forms a heterotrimer. J Biol Chem 281:374-382
32. Carrodeguas JA, Bogenhagen DF (2000) Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase. Nucleic Acids Res 28:1237-1244
33. Iyengar B, Luo N, Farr CL, Kaguni LS, Campos AR(2002) The accessory subunit ofDNApolymerase gamma is essential for mitochondrialDNAmaintenance and development in Drosophila melanogaster. Proc Natl Acad Sci U S A 99:4483-4488
34. Kaguni LS (2004) DNA polymerase gamma, the mitochondrial replicase. Annu Rev Biochem 73:293-320
35. Ferraris S, Clark S, Garelli E et al (2008) Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. Arch Neurol 65:125-131
36. Ratanajaraya C, Nishiyama H, Takahashi M et al (2011) A polymorphism of the POLG2 gene is genetically associated with the invasiveness of urinary bladder cancer in Japanese males. J Hum Genet 56:572-576
37. Michiels S, Danoy P, Dessen P et al (2007) Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers. Carcinogenesis 28:1731-1739
38. Huang H, Shiffman ML, Cheung RC et al (2006) Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. Gastroenterology 130:1679- 1687
39. Craig K, Young MJ, Blakely EL et al (2012) A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase gamma subunits. Mitochondrion 12(2):313-319
40. Chang YF, Imam JS, Wilkinson MF (2007) The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 76:51-74
41. Baneyx F, Mujacic M (2004) Recombinant protein folding and misfolding in Escherichia coli. Nat Biotechnol 22:1399-1408
42. Krishnan KJ, Reeve AK, Samuels DC et al (2008) What causes mitochondrial DNA deletions in human cells? Nat Genet 40:275-279
43. Walter MC, Czermin B, Muller-Ziermann S et al (2010) Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol 257:1517-1523
44. Lee YS, Molineux IJ, Yin YW (2010) A single mutation in human mitochondrial DNA polymerase pol gammaA affects both polymerization and proofreading activities, but only as a holoenzyme. J Biol Chem 285:28105-28116
45. Luoma PT, Luo N, LoscherWNet al (2005) Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Hum Mol Genet 14:1907-1920
46. Chan SSL, Longley MJ, Copeland WC (2005) The common A467T mutation in the human mitochondrialDNApolymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem 280:31341-31346
47. Ferrari G, Lamantea E, Donati A et al (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-{gamma}A. Brain 128:723-731
48. Kollberg G, Moslemi AR, Darin N et al (2006) POLG1 mutations associated with progressive encephalopathy in childhood. J Neuropathol Exp Neurol 65:758-768
49. Harrower T, Stewart JD, Hudson G et al (2008) POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Arch Neurol 65:133-136
50. Taanman JW, Rahman S, Pagnamenta AT et al (2009) Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. Hum Mutat 30:248-254
51. Wong LJ, Naviaux RK, Brunetti-Pierri N et al (2008) Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 29:E150-172
52. Szczepanowska K, Foury F (2010) A cluster of pathogenic mutations in the 3-5 exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation. Hum Mol Genet 19:3516-3529
53. Horvath R, Hudson G, Ferrari G et al (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase {gamma} gene. Brain 129:1674-1684
54. Stewart JD, Tennant S, Powell H et al (2009) Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. J Med Genet 46:209-214
55. Stewart JD, Schoeler S, Sitarz KS et al (2011) POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. Biochim Biophys Acta 1812:321-325
56. Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM (2009) Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease. Neurol 72:e86-90
57. Harris MO, Walsh LE, Hattab EM, Golomb MR (2010) Is it ADEM, POLG, or both? Arch Neurol 67:493-496
58. Agostino A, Valletta L, Chinnery PF et al (2003) Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurol 60:1354-1356
59. Gonzalez-Vioque E, BlazquezA, Fernandez-MoreiraDet al (2006)Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Arch Neurol 63:107-111
60. Chan SSL, Longley MJ, Copeland WC (2006) Modulation of the W748S mutation in DNA polymerase {gamma} by the E1143G polymorphism in mitochondrial disorders. Hum Mol Genet 15:3473-3483
61. Hakonen AH, Heiskanen S, Juvonen V et al (2005) Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77:430-441
62. Kasiviswanathan R, Longley MJ, Chan SS, Copeland WC (2009) Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mtDNA replication. J Biol Chem 284:19501-19510
63. Wernette CM, Kaguni LS (1986) A mitochondrial DNA polymerase from embryos of Drosophila melanogaster. Purification, subunit structure, and partial characterization. J Biol Chem 261:14764-14770
64. Vanderstraeten S, Van den Brule S, Hu J, Foury F (1998) The role of 3-5 exonucleolytic proofreading and mismatch repair in yeast mitochondrial DNA error avoidance. J Biol Chem 273:23690-23697
65. Viikov K, Valjamae P, Sedman J (2011) Yeast mitochondrial DNA polymerase is a highly processive single-subunit enzyme. Mitochondrion 11:119-126
66. Young MJ, Theriault SS, Li M, Court DA (2006) The carboxyl-terminal extension on fungal mitochondrial DNA polymerases: identification of a critical region of the enzyme from Saccharomyces cerevisiae.Yeast 23:101-116
67. Simossis VA, Heringa J (2005) PRALINE: a multiple sequence alignment toolbox that integrates homology-extended and secondary structure information. Nucleic Acids Res 33:W289-294
68. Spinazzola A, Invernizzi F, Carrara F et al (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32:143-158