Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

European Journal of Human Genetics

Volumn 7, Issue 2, 1999, Pages 140-146

  Rovio, Anja ^a   Tiranti, Valeria ^b   Bednarz, Amy L ^c   Suomalainen, Anu ^d   Spelbrink, Johannes N ^a   Lecrenier, Nicolas ^e   Melberg, Atle ^f   Zeviani, Massimo ^b   Poulton, Joanna ^c   Foury, Françoise ^e   Jacobs, Howard T ^a,g,h  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^e UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^f UPPSALA UNIVERSITY   (Sweden)

^g UNIVERSITY OF GLASGOW   (United Kingdom)

^h UNIVERSITY OF TAMPERE   (Finland)

Author keywords

Deletions; DNA polymerase; Microsatellite; Mitochondrial DNA; Mitochondrial myopathy; Myotonic dystrophy; Polyglutamine tract; Progressive external ophthalmoplegia; Trinucleotide repeat

Indexed keywords

DNA POLYMERASE; MITOCHONDRIAL DNA;

ALLELE; ARTICLE; EXTERNAL OPHTHALMOPLEGIA; FINLAND; HOMOZYGOSITY; HUMAN; MITOCHONDRIAL MYOPATHY; POINT MUTATION; PRIORITY JOURNAL; STRUCTURAL GENE; TRINUCLEOTIDE REPEAT;

EID: 0032986615     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200244     Document Type: Article

References (31)

1. Larsson NG, Clayton DA: Molecular genetic aspects of human mitochondrial disorders. Annit Rev Genet 1995; 29: 151-178.
2. Fadic R, Johns DR: Clinical spectrum of mitochondrial diseases. Seminars Neurol 1996; 6: 1-20.
3. Moraes CT, Shanske S, Tritschler HJ et al: MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991; 48: 492-501.
4. Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AH: Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet 1993; 53: 663-669.
5. Bakker HD, Scholte HR, Dingemans KP, Spelbrink JN, Wijburg FN, Van den Bogert C: Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr 1996; 128: 683-687.
6. Zeviani M, Bresolin N, Gellera C et al: Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47: 904-914.
7. Suomalainen A, Kaukonen J, Amati P et al: An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995; 9: 146-151.
8. Kaukonen JA, Amati P, Suomalainen A et al: An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 1996; 58: 763-769.
9. Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, Di Mauro S: Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996; 46: 1329-1334.
10. Walker RL, Anziano P, Meltzer PS: A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25. Genomics 1997; 40: 376-378.
11. Ropp PA, Copeland WC: Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. Genomics 1996; 36: 449-458.
12. Zullo SJ, Butler L, Zahorchak RJ, MacVille M, Wilkes C, Merril CR: Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase γ (POLG) to human chromosome band 15q24→15q26, and of mouse mitochondrial polymerase γ (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs). Cytogenet Cell Genet 1997; 78: 281-284.
13. Lecrenier N, Van Der Bruggen P, Foury F: Mitochondrial DNA polymerases from yeast to man: a new family of polymerases. Gene 1997; 185: 147-152.
14. La Spada AR: Trinucleotide repeat instability: genetic features and molecular mechanisms. Brain Pathol 1997; 7: 943-963.
15. Koshy BT, Zoghbi HY: The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol 1997; 7: 927-942.
16. Wellington CL, Brinkman RR, O'Kusky JR, Hayden MR: Toward understanding the molecular pathology of Huntington's Disease. Brain Pathol 1997; 7: 979-1002.
17. Giovannucci E, Stampfer MJ, Krithivas K et al: The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proc Natl Acad Sci USA 1997; 94: 3320-3323.
18. Melberg A, Arnell H, Dahl N et al: Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve 1996; 19: 1561-1569.
19. Gyapay G, Schmitt K, Fizames C et al: A radiation hybrid map of the human genome. Hum Mol Genet 1996; 5: 339-346.
20. ABI PRISM™ 310 Genetic Analyser, GeneScan™ Chemistry Guide. Perkin Elmer Corporation: July 1995.
21. Spelbrink JN, Van Galen MJM, Zwart R et al: Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes. Hum Genet 1998; 102: 327-331.
22. Reid FM, Vernham GA, Jacobs HT: A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994; 3: 243-247.
23. Wenz H, Robertson JM, Menchen S et al: High-precision genotyping by denaturing capillary electrophoresis. Genome Res 1998; 8: 69-80.
24. Holt IJ, Harding AE, Morgan-Hughes JA: Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-719.
25. Mariotti C, Uziel G, Carrara F et al: Early onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion - a morphological, biochemical and molecular genetic study. J Neurol 1995; 242: 547-556.
26. Poulton J, Sewry C, Potter CG et al: Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mitochondrial DNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inherit Metab Dis 1995; 18: 4-20.
27. Goto Y, Nonaka I, Horai S: A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-653.
28. Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Comm 1990; 173: 816-822.
29. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW. Wallace DC: Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 1990; 61: 931-937.
30. Prezant TR, Agapian JV, Bohlman MC et al: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-294.
31. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA: A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990; 46: 428-433.