Functional and structural features of a tandem duplication of the human mtDNA promoter region

American Journal of Human Genetics

Volumn 60, Issue 6, 1997, Pages 1363-1372

  Hao, Huiling ^a   Manfredi, Giovanni ^b   Moraes, Carlos T ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA POLYMORPHISM; DNA SEQUENCE; DNA STRUCTURE; HAPLOTYPE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MUTATION; NORTHERN BLOTTING; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROMOTER REGION; SOUTHERN BLOTTING;

EID: 0030917930     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515474     Document Type: Article

References (36)

1. Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457-465
2. Ballinger SW, Shoffner JM, Gebhart S, Koontz DA, Wallace DC (1994) Mitochondrial diabetes revisited. Nat Genet 7: 458-459
3. Brockington M, Sweeney MG, Hammans SR, Morgan-Hughes JA, Harding AE (1993) A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nat Genet 4:67-71
4. Broughton RE, Dowling TE (1994) Length variation in mitochondrial DNA of the minnow Cyprinella spiloftera. Genetics 138:179-190
5. Burocker NE, Brown JR, Gilbert TA, O'Hara PJ, Beckenbach AT, Thomas WK, Smith MJ (1990) Length heteroplasmy of sturgeon mitochondrial DNA: an illegitimate elongation model. Genetics 124:157-163
6. Chang DD, Clayton DA (1985) Priming of human mitochondrial DNA replication occurs at the light-strand promoter. Proc Natl Acad Sci USA 82:351-355
7. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
8. Clayton DA (1991) Replication and transcription of vertebrate mitochondrial DNA. Annu Rev Cell Biol 7:453-478
9. Cortopassi GA, Arnheim N (1991) Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res 18:6927-6933
10. DiMauro S, Moraes CT (1993) Mitochondrial encephalomyopathies. Arch Neurol 50:1197-1207
11. DiMauro S, Servidei S, Zeviani M, Lombes A (1987) Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22:498-506
12. Erba HP, Eddy R, Shows T, Kedes L, Gunning P (1988) Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes. Mol Cell Biol 8:1775-1789
13. Fisher RP, Clayton DA (1985) A transcription factor required for promoter recognition by human mitochondrial RNA polymerase. Accurate initiation at the heavy- and light-strand promoters dissected and reconstituted in vitro. J Biol Chem 260:11330-11338
14. Hao H, Moraes CT (1996) Functional and molecular mitochondrial abnormalities associated with a C→T transition at position 3256 of the human mitochondrial genome. J Biol Chem 271:2347-2352
15. Hauswirth WW, Clayton DA (1985) Length heterogeneity of a conserved displacement-loop sequence in human mitochondrial DNA. Nucleic Acids Res 13:8093-8104
16. Hayasaka H, Ishida T, Horai S (1990) Heteroplasmy and polymorphism in the major noncoding region of mitochondrial DNA in Japanese monkeys. Mol Biol Evol 8:339-415
17. Hofhaus G, Johns DR, Hurko O, Attardi G, Chomyn A (1996) Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J Biol Chem 271:13155-13161
18. Johnston W, Karpati G, Carpenter S, Arnold D, Shoubridge EA (1995) Late-onset mitochondrial myopathy. Ann Neurol 37:16-23
19. King MP, Attardi G (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246:500-503
20. Larsson NG, Clayton DA (1995) Molecular genetics aspects of human mitochondrial disorders. Annu Rev Genet 29: 151-178
21. Larsson NG, Oldfors A, Holme E, Clayton DA (1994) Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun 200: 1374-1381
22. Lee H, Pang C, Hsu H, Wei Y (1994) Ageing-associated tandem duplications in the D-loop of mitochondrial DNA of human muscle. FEBS Lett 354:79-83
23. Li H, Cui X, Arnheim N (1991) Analysis of DNA sequence variation in single cells. Methods Companion Methods Enzymol 2:49-59
24. Madsen CS, Ghivizzani SC, Hauswirth WW (1993) In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria. Proc Natl Acad Sci USA 90:7671-7675
25. Manfredi G, Servidei S, Bonilla E, Shanske S, Schon EA, DiMauro S, Moraes CT (1995) High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy. Neurology 45:762-768
26. Mignotte F, Gueride M, Champagne AM, Mounolou JC (1990) Direct repeats in the non-coding region of rabbit mitochondrial DNA. Involvement in the generation of intra-and inter-individual heterogeneity. Eur J Biochem 194:561-571
27. Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda A F, Nakase H, et al (1989) Mitochondrial DNA deletions in Progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320:1293-1299
28. Parisi MA, Xu B, Clayton DA (1993) A human mitochondrial transcriptional activator can functionally replace a yeast mitochondrial HGM-box protein both in vivo and in vitro. Mol Cell Biol 13:1951-1961
29. Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G (1993) Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient internediate form. Hum Mol Genet 2:23-30
30. Poulton J, Holt IJ (1994) Mitochondrial DNA: does more lead to less? Nat Genet 8:313-315
31. Rötig A, Bessis J-L, Romero N, Cormier V, Saudubray J-M, Narcy P, Lenoir G, et al (1992) Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 50:364-370
32. Sambrook J, Fritsch EF, Maniatis T (eds) (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
33. Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT (1994) Distribution of wild-type and common deletion forms of mtDNA in normal and respiratory-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet 3:13-19
34. Torroni A, Lott MT, Cabell MF, Chen Y-S, Lavergne L, Wallace DC (1994) Mitochondrial DNA and the origin of Caucasians: identification of ancient Caucasian-specific haplo-groups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 55:760-776
35. Wallace DC (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212
36. Wilson G, Hollar B, Waterson J, Schmickel R (1978) Molecular analysis of cloned human 18S ribosomal DNA segments. Proc Natl Acad Sci USA 75:5367-5371