Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1995 Aug;57(2):201–223.

1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging.

D C Wallace 1
PMCID: PMC1801540  PMID: 7668244

Full text

PDF
201

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. doi: 10.1038/290457a0. [DOI] [PubMed] [Google Scholar]
  2. Bailliet G., Rothhammer F., Carnese F. R., Bravi C. M., Bianchi N. O. Founder mitochondrial haplotypes in Amerindian populations. Am J Hum Genet. 1994 Jul;55(1):27–33. [PMC free article] [PubMed] [Google Scholar]
  3. Ballinger S. W., Schurr T. G., Torroni A., Gan Y. Y., Hodge J. A., Hassan K., Chen K. H., Wallace D. C. Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics. 1992 Jan;130(1):139–152. doi: 10.1093/genetics/130.1.139. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Ballinger S. W., Shoffner J. M., Gebhart S., Koontz D. A., Wallace D. C. Mitochondrial diabetes revisited. Nat Genet. 1994 Aug;7(4):458–459. doi: 10.1038/ng0894-458. [DOI] [PubMed] [Google Scholar]
  5. Ballinger S. W., Shoffner J. M., Hedaya E. V., Trounce I., Polak M. A., Koontz D. A., Wallace D. C. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet. 1992 Apr;1(1):11–15. doi: 10.1038/ng0492-11. [DOI] [PubMed] [Google Scholar]
  6. Blanc H., Adams C. W., Wallace D. C. Different nucleotide changes in the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance on two human cell lines. Nucleic Acids Res. 1981 Nov 11;9(21):5785–5795. doi: 10.1093/nar/9.21.5785. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Blanc H., Chen K. H., D'Amore M. A., Wallace D. C. Amino acid change associated with the major polymorphic Hinc II site of Oriental and Caucasian mitochondrial DNAs. Am J Hum Genet. 1983 Mar;35(2):167–176. [PMC free article] [PubMed] [Google Scholar]
  8. Blanc H., Wright C. T., Bibb M. J., Wallace D. C., Clayton D. A. Mitochondrial DNA of chloramphenicol-resistant mouse cells contains a single nucleotide change in the region encoding the 3' end of the large ribosomal RNA. Proc Natl Acad Sci U S A. 1981 Jun;78(6):3789–3793. doi: 10.1073/pnas.78.6.3789. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Brockington M., Sweeney M. G., Hammans S. R., Morgan-Hughes J. A., Harding A. E. A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nat Genet. 1993 May;4(1):67–71. doi: 10.1038/ng0593-67. [DOI] [PubMed] [Google Scholar]
  10. Brown M. D., Voljavec A. S., Lott M. T., MacDonald I., Wallace D. C. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J. 1992 Jul;6(10):2791–2799. doi: 10.1096/fasebj.6.10.1634041. [DOI] [PubMed] [Google Scholar]
  11. Brown M. D., Voljavec A. S., Lott M. T., Torroni A., Yang C. C., Wallace D. C. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992 Jan;130(1):163–173. doi: 10.1093/genetics/130.1.163. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Brown M. D., Wallace D. C. Molecular basis of mitochondrial DNA disease. J Bioenerg Biomembr. 1994 Jun;26(3):273–289. doi: 10.1007/BF00763099. [DOI] [PubMed] [Google Scholar]
  13. Brown M. D., Yang C. C., Trounce I., Torroni A., Lott M. T., Wallace D. C. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet. 1992 Aug;51(2):378–385. [PMC free article] [PubMed] [Google Scholar]
  14. Brown W. M. Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3605–3609. doi: 10.1073/pnas.77.6.3605. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Bunn C. L., Wallace D. C., Eisenstadt J. M. Cytoplasmic inheritance of chloramphenicol resistance in mouse tissue culture cells. Proc Natl Acad Sci U S A. 1974 May;71(5):1681–1685. doi: 10.1073/pnas.71.5.1681. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Cann R. L., Stoneking M., Wilson A. C. Mitochondrial DNA and human evolution. Nature. 1987 Jan 1;325(6099):31–36. doi: 10.1038/325031a0. [DOI] [PubMed] [Google Scholar]
  17. Cann R. L., Wilson A. C. Length mutations in human mitochondrial DNA. Genetics. 1983 Aug;104(4):699–711. doi: 10.1093/genetics/104.4.699. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Case J. T., Wallace D. C. Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts. Somatic Cell Genet. 1981 Jan;7(1):103–108. doi: 10.1007/BF01544751. [DOI] [PubMed] [Google Scholar]
  19. Chen Y. S., Torroni A., Excoffier L., Santachiara-Benerecetti A. S., Wallace D. C. Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet. 1995 Jul;57(1):133–149. [PMC free article] [PubMed] [Google Scholar]
  20. Corral-Debrinski M., Horton T., Lott M. T., Shoffner J. M., Beal M. F., Wallace D. C. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat Genet. 1992 Dec;2(4):324–329. doi: 10.1038/ng1292-324. [DOI] [PubMed] [Google Scholar]
  21. Corral-Debrinski M., Horton T., Lott M. T., Shoffner J. M., McKee A. C., Beal M. F., Graham B. H., Wallace D. C. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics. 1994 Sep 15;23(2):471–476. doi: 10.1006/geno.1994.1525. [DOI] [PubMed] [Google Scholar]
  22. Corral-Debrinski M., Shoffner J. M., Lott M. T., Wallace D. C. Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease. Mutat Res. 1992 Sep;275(3-6):169–180. doi: 10.1016/0921-8734(92)90021-g. [DOI] [PubMed] [Google Scholar]
  23. Corral-Debrinski M., Stepien G., Shoffner J. M., Lott M. T., Kanter K., Wallace D. C. Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease. JAMA. 1991 Oct 2;266(13):1812–1816. [PubMed] [Google Scholar]
  24. Denaro M., Blanc H., Johnson M. J., Chen K. H., Wilmsen E., Cavalli-Sforza L. L., Wallace D. C. Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1981 Sep;78(9):5768–5772. doi: 10.1073/pnas.78.9.5768. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Di Rienzo A., Wilson A. C. Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci U S A. 1991 Mar 1;88(5):1597–1601. doi: 10.1073/pnas.88.5.1597. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Giles R. E., Blanc H., Cann H. M., Wallace D. C. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715–6719. doi: 10.1073/pnas.77.11.6715. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990 Dec 13;348(6302):651–653. doi: 10.1038/348651a0. [DOI] [PubMed] [Google Scholar]
  28. Hedges S. B., Kumar S., Tamura K., Stoneking M. Human origins and analysis of mitochondrial DNA sequences. Science. 1992 Feb 7;255(5045):737–739. doi: 10.1126/science.1738849. [DOI] [PubMed] [Google Scholar]
  29. Hertzberg M., Mickleson K. N., Serjeantson S. W., Prior J. F., Trent R. J. An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians. Am J Hum Genet. 1989 Apr;44(4):504–510. [PMC free article] [PubMed] [Google Scholar]
  30. Holt I. J., Harding A. E., Morgan-Hughes J. A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988 Feb 25;331(6158):717–719. doi: 10.1038/331717a0. [DOI] [PubMed] [Google Scholar]
  31. Holt I. J., Harding A. E., Petty R. K., Morgan-Hughes J. A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990 Mar;46(3):428–433. [PMC free article] [PubMed] [Google Scholar]
  32. Horai S., Hayasaka K. Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet. 1990 Apr;46(4):828–842. [PMC free article] [PubMed] [Google Scholar]
  33. Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N. Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):532–536. doi: 10.1073/pnas.92.2.532. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Horai S., Kondo R., Nakagawa-Hattori Y., Hayashi S., Sonoda S., Tajima K. Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol Biol Evol. 1993 Jan;10(1):23–47. doi: 10.1093/oxfordjournals.molbev.a039987. [DOI] [PubMed] [Google Scholar]
  35. Horai S., Matsunaga E. Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition. Hum Genet. 1986 Feb;72(2):105–117. doi: 10.1007/BF00283927. [DOI] [PubMed] [Google Scholar]
  36. Howell N., Bindoff L. A., McCullough D. A., Kubacka I., Poulton J., Mackey D., Taylor L., Turnbull D. M. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet. 1991 Nov;49(5):939–950. [PMC free article] [PubMed] [Google Scholar]
  37. Huoponen K., Vilkki J., Aula P., Nikoskelainen E. K., Savontaus M. L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1991 Jun;48(6):1147–1153. [PMC free article] [PubMed] [Google Scholar]
  38. Johns D. R., Neufeld M. J. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1991 Dec 31;181(3):1358–1364. doi: 10.1016/0006-291x(91)92088-2. [DOI] [PubMed] [Google Scholar]
  39. Johns D. R., Neufeld M. J., Park R. D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1992 Sep 30;187(3):1551–1557. doi: 10.1016/0006-291x(92)90479-5. [DOI] [PubMed] [Google Scholar]
  40. Johnson M. J., Wallace D. C., Ferris S. D., Rattazzi M. C., Cavalli-Sforza L. L. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol. 1983;19(3-4):255–271. doi: 10.1007/BF02099973. [DOI] [PubMed] [Google Scholar]
  41. Jun A. S., Brown M. D., Wallace D. C. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6206–6210. doi: 10.1073/pnas.91.13.6206. [DOI] [PMC free article] [PubMed] [Google Scholar]
  42. Kadowaki T., Kadowaki H., Mori Y., Tobe K., Sakuta R., Suzuki Y., Tanabe Y., Sakura H., Awata T., Goto Y. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med. 1994 Apr 7;330(14):962–968. doi: 10.1056/NEJM199404073301403. [DOI] [PubMed] [Google Scholar]
  43. Kearsey S. E., Craig I. W. Altered ribosomal RNA genes in mitochondria from mammalian cells with chloramphenicol resistance. Nature. 1981 Apr 16;290(5807):607–608. doi: 10.1038/290607a0. [DOI] [PubMed] [Google Scholar]
  44. King M. P., Attardi G. Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA. Cell. 1988 Mar 25;52(6):811–819. doi: 10.1016/0092-8674(88)90423-0. [DOI] [PubMed] [Google Scholar]
  45. Kobayashi Y., Momoi M. Y., Tominaga K., Momoi T., Nihei K., Yanagisawa M., Kagawa Y., Ohta S. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun. 1990 Dec 31;173(3):816–822. doi: 10.1016/s0006-291x(05)80860-5. [DOI] [PubMed] [Google Scholar]
  46. Larsson N. G., Holme E., Kristiansson B., Oldfors A., Tulinius M. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res. 1990 Aug;28(2):131–136. doi: 10.1203/00006450-199008000-00011. [DOI] [PubMed] [Google Scholar]
  47. Lucotte G., Guérin P., Hallé L., Loirat F., Hazout S. Y chromosome DNA polymorphisms in two African populations. Am J Hum Genet. 1989 Jul;45(1):16–20. [PMC free article] [PubMed] [Google Scholar]
  48. Merriwether D. A., Clark A. G., Ballinger S. W., Schurr T. G., Soodyall H., Jenkins T., Sherry S. T., Wallace D. C. The structure of human mitochondrial DNA variation. J Mol Evol. 1991 Dec;33(6):543–555. doi: 10.1007/BF02102807. [DOI] [PubMed] [Google Scholar]
  49. Mita S., Schmidt B., Schon E. A., DiMauro S., Bonilla E. Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9509–9513. doi: 10.1073/pnas.86.23.9509. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Moraes C. T., DiMauro S., Zeviani M., Lombes A., Shanske S., Miranda A. F., Nakase H., Bonilla E., Werneck L. C., Servidei S. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 1989 May 18;320(20):1293–1299. doi: 10.1056/NEJM198905183202001. [DOI] [PubMed] [Google Scholar]
  51. Neckelmann N., Li K., Wade R. P., Shuster R., Wallace D. C. cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7580–7584. doi: 10.1073/pnas.84.21.7580. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. Nei M., Tajima F. Maximum likelihood estimation of the number of nucleotide substitutions from restriction sites data. Genetics. 1983 Sep;105(1):207–217. doi: 10.1093/genetics/105.1.207. [DOI] [PMC free article] [PubMed] [Google Scholar]
  53. Newman N. J., Torroni A., Brown M. D., Lott M. T., Fernandez M. M., Wallace D. C. Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team. Am J Ophthalmol. 1994 Aug 15;118(2):158–168. doi: 10.1016/s0002-9394(14)72895-8. [DOI] [PubMed] [Google Scholar]
  54. Ngo K. Y., Vergnaud G., Johnsson C., Lucotte G., Weissenbach J. A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet. 1986 Apr;38(4):407–418. [PMC free article] [PubMed] [Google Scholar]
  55. Novotny E. J., Jr, Singh G., Wallace D. C., Dorfman L. J., Louis A., Sogg R. L., Steinman L. Leber's disease and dystonia: a mitochondrial disease. Neurology. 1986 Aug;36(8):1053–1060. doi: 10.1212/wnl.36.8.1053. [DOI] [PubMed] [Google Scholar]
  56. Oliver N. A., Wallace D. C. Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction. Mol Cell Biol. 1982 Jan;2(1):30–41. doi: 10.1128/mcb.2.1.30. [DOI] [PMC free article] [PubMed] [Google Scholar]
  57. Ortiz R. G., Newman N. J., Shoffner J. M., Kaufman A. E., Koontz D. A., Wallace D. C. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol. 1993 Nov;111(11):1525–1530. doi: 10.1001/archopht.1993.01090110091031. [DOI] [PubMed] [Google Scholar]
  58. Persichetti F., Blasi P., Hammer M., Malaspina P., Jodice C., Terrenato L., Novelletto A. Disequilibrium of multiple DNA markers on the human Y chromosome. Ann Hum Genet. 1992 Oct;56(Pt 4):303–310. doi: 10.1111/j.1469-1809.1992.tb01157.x. [DOI] [PubMed] [Google Scholar]
  59. Poulton J., Deadman M. E., Bindoff L., Morten K., Land J., Brown G. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet. 1993 Jan;2(1):23–30. doi: 10.1093/hmg/2.1.23. [DOI] [PubMed] [Google Scholar]
  60. Poulton J., Holt I. J. Mitochondrial DNA: does more lead to less? Nat Genet. 1994 Dec;8(4):313–315. doi: 10.1038/ng1294-313. [DOI] [PubMed] [Google Scholar]
  61. Rotig A., Colonna M., Bonnefont J. P., Blanche S., Fischer A., Saudubray J. M., Munnich A. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet. 1989 Apr 22;1(8643):902–903. doi: 10.1016/s0140-6736(89)92897-3. [DOI] [PubMed] [Google Scholar]
  62. Rötig A., Cormier V., Blanche S., Bonnefont J. P., Ledeist F., Romero N., Schmitz J., Rustin P., Fischer A., Saudubray J. M. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest. 1990 Nov;86(5):1601–1608. doi: 10.1172/JCI114881. [DOI] [PMC free article] [PubMed] [Google Scholar]
  63. Saitou N., Nei M. The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol. 1987 Jul;4(4):406–425. doi: 10.1093/oxfordjournals.molbev.a040454. [DOI] [PubMed] [Google Scholar]
  64. Santachiara Benerecetti A. S., Semino O., Passarino G., Torroni A., Brdicka R., Fellous M., Modiano G. The common, Near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity. Ann Hum Genet. 1993 Jan;57(Pt 1):55–64. doi: 10.1111/j.1469-1809.1993.tb00886.x. [DOI] [PubMed] [Google Scholar]
  65. Santos M., Barrantes R. D-loop mtDNA deletion as a unique marker of Chibchan Amerindians. Am J Hum Genet. 1994 Aug;55(2):413–414. [PMC free article] [PubMed] [Google Scholar]
  66. Schurr T. G., Ballinger S. W., Gan Y. Y., Hodge J. A., Merriwether D. A., Lawrence D. N., Knowler W. C., Weiss K. M., Wallace D. C. Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. Am J Hum Genet. 1990 Mar;46(3):613–623. [PMC free article] [PubMed] [Google Scholar]
  67. Shoffner J. M., Bialer M. G., Pavlakis S. G., Lott M., Kaufman A., Dixon J., Teichberg S., Wallace D. C. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene. Neurology. 1995 Feb;45(2):286–292. doi: 10.1212/wnl.45.2.286. [DOI] [PubMed] [Google Scholar]
  68. Shoffner J. M., Brown M. D., Torroni A., Lott M. T., Cabell M. F., Mirra S. S., Beal M. F., Yang C. C., Gearing M., Salvo R. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics. 1993 Jul;17(1):171–184. doi: 10.1006/geno.1993.1299. [DOI] [PubMed] [Google Scholar]
  69. Shoffner J. M., Fernhoff P. M., Krawiecki N. S., Caplan D. B., Holt P. J., Koontz D. A., Takei Y., Newman N. J., Ortiz R. G., Polak M. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology. 1992 Nov;42(11):2168–2174. doi: 10.1212/wnl.42.11.2168. [DOI] [PubMed] [Google Scholar]
  70. Shoffner J. M., Lott M. T., Lezza A. M., Seibel P., Ballinger S. W., Wallace D. C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell. 1990 Jun 15;61(6):931–937. doi: 10.1016/0092-8674(90)90059-n. [DOI] [PubMed] [Google Scholar]
  71. Shoffner J. M., Wallace D. C. Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment. Annu Rev Nutr. 1994;14:535–568. doi: 10.1146/annurev.nu.14.070194.002535. [DOI] [PubMed] [Google Scholar]
  72. Shoubridge E. A., Karpati G., Hastings K. E. Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Cell. 1990 Jul 13;62(1):43–49. doi: 10.1016/0092-8674(90)90238-a. [DOI] [PubMed] [Google Scholar]
  73. Soong N. W., Hinton D. R., Cortopassi G., Arnheim N. Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat Genet. 1992 Dec;2(4):318–323. doi: 10.1038/ng1292-318. [DOI] [PubMed] [Google Scholar]
  74. Spurdle A., Jenkins T. Y chromosome probe p49a detects complex PvuII haplotypes and many new TaqI haplotypes in southern African populations. Am J Hum Genet. 1992 Jan;50(1):107–125. [PMC free article] [PubMed] [Google Scholar]
  75. Stone A. C., Stoneking M. Ancient DNA from a pre-Columbian Amerindian population. Am J Phys Anthropol. 1993 Dec;92(4):463–471. doi: 10.1002/ajpa.1330920405. [DOI] [PubMed] [Google Scholar]
  76. Szathmary E. J. Peopling of northern North America: clues from genetic studies. Acta Anthropogenet. 1984;8(1-2):79–109. [PubMed] [Google Scholar]
  77. Tateno Y., Nei M., Tajima F. Accuracy of estimated phylogenetic trees from molecular data. I. Distantly related species. J Mol Evol. 1982;18(6):387–404. doi: 10.1007/BF01840887. [DOI] [PubMed] [Google Scholar]
  78. Tatuch Y., Christodoulou J., Feigenbaum A., Clarke J. T., Wherret J., Smith C., Rudd N., Petrova-Benedict R., Robinson B. H. Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet. 1992 Apr;50(4):852–858. [PMC free article] [PubMed] [Google Scholar]
  79. Templeton A. R. Human origins and analysis of mitochondrial DNA sequences. Science. 1992 Feb 7;255(5045):737–737. doi: 10.1126/science.1590849. [DOI] [PubMed] [Google Scholar]
  80. Torroni A., Brown M. D., Lott M. T., Newman N. J., Wallace D. C. African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba. Cuba Neuropathy Field Investigation Team. Hum Mutat. 1995;5(4):310–317. doi: 10.1002/humu.1380050407. [DOI] [PubMed] [Google Scholar]
  81. Torroni A., Chen Y. S., Semino O., Santachiara-Beneceretti A. S., Scott C. R., Lott M. T., Winter M., Wallace D. C. mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico. Am J Hum Genet. 1994 Feb;54(2):303–318. [PMC free article] [PubMed] [Google Scholar]
  82. Torroni A., Lott M. T., Cabell M. F., Chen Y. S., Lavergne L., Wallace D. C. mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet. 1994 Oct;55(4):760–776. [PMC free article] [PubMed] [Google Scholar]
  83. Torroni A., Miller J. A., Moore L. G., Zamudio S., Zhuang J., Droma T., Wallace D. C. Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol. 1994 Feb;93(2):189–199. doi: 10.1002/ajpa.1330930204. [DOI] [PubMed] [Google Scholar]
  84. Torroni A., Schurr T. G., Cabell M. F., Brown M. D., Neel J. V., Larsen M., Smith D. G., Vullo C. M., Wallace D. C. Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet. 1993 Sep;53(3):563–590. [PMC free article] [PubMed] [Google Scholar]
  85. Torroni A., Schurr T. G., Yang C. C., Szathmary E. J., Williams R. C., Schanfield M. S., Troup G. A., Knowler W. C., Lawrence D. N., Weiss K. M. Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics. 1992 Jan;130(1):153–162. doi: 10.1093/genetics/130.1.153. [DOI] [PMC free article] [PubMed] [Google Scholar]
  86. Torroni A., Semino O., Scozzari R., Sirugo G., Spedini G., Abbas N., Fellous M., Santachiara Benerecetti A. S. Y chromosome DNA polymorphisms in human populations: differences between Caucasoids and Africans detected by 49a and 49f probes. Ann Hum Genet. 1990 Oct;54(Pt 4):287–296. doi: 10.1111/j.1469-1809.1990.tb00384.x. [DOI] [PubMed] [Google Scholar]
  87. Torroni A., Sukernik R. I., Schurr T. G., Starikorskaya Y. B., Cabell M. F., Crawford M. H., Comuzzie A. G., Wallace D. C. mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet. 1993 Sep;53(3):591–608. [PMC free article] [PubMed] [Google Scholar]
  88. Torroni A., Wallace D. C. MtDNA haplogroups in Native Americans. Am J Hum Genet. 1995 May;56(5):1234–1238. [PMC free article] [PubMed] [Google Scholar]
  89. Trounce I., Neill S., Wallace D. C. Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci U S A. 1994 Aug 30;91(18):8334–8338. doi: 10.1073/pnas.91.18.8334. [DOI] [PMC free article] [PubMed] [Google Scholar]
  90. Vigilant L., Stoneking M., Harpending H., Hawkes K., Wilson A. C. African populations and the evolution of human mitochondrial DNA. Science. 1991 Sep 27;253(5027):1503–1507. doi: 10.1126/science.1840702. [DOI] [PubMed] [Google Scholar]
  91. Wallace D. C. Assignment of the chloramphenicol resistance gene to mitochondrial deoxyribonucleic acid and analysis of its expression in cultured human cells. Mol Cell Biol. 1981 Aug;1(8):697–710. doi: 10.1128/mcb.1.8.697. [DOI] [PMC free article] [PubMed] [Google Scholar]
  92. Wallace D. C., Bunn C. L., Eisenstadt J. M. Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells. J Cell Biol. 1975 Oct;67(1):174–188. doi: 10.1083/jcb.67.1.174. [DOI] [PMC free article] [PubMed] [Google Scholar]
  93. Wallace D. C., Garrison K., Knowler W. C. Dramatic founder effects in Amerindian mitochondrial DNAs. Am J Phys Anthropol. 1985 Oct;68(2):149–155. doi: 10.1002/ajpa.1330680202. [DOI] [PubMed] [Google Scholar]
  94. Wallace D. C., Lott M. T., Shoffner J. M., Ballinger S. Mitochondrial DNA mutations in epilepsy and neurological disease. Epilepsia. 1994;35 (Suppl 1):S43–S50. doi: 10.1111/j.1528-1157.1994.tb05928.x. [DOI] [PubMed] [Google Scholar]
  95. Wallace D. C., Singh G., Lott M. T., Hodge J. A., Schurr T. G., Lezza A. M., Elsas L. J., 2nd, Nikoskelainen E. K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427–1430. doi: 10.1126/science.3201231. [DOI] [PubMed] [Google Scholar]
  96. Wallace D. C., Torroni A. American Indian prehistory as written in the mitochondrial DNA: a review. Hum Biol. 1992 Jun;64(3):403–416. [PubMed] [Google Scholar]
  97. Wallace D. C., Ye J. H., Neckelmann S. N., Singh G., Webster K. A., Greenberg B. D. Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations. Curr Genet. 1987;12(2):81–90. doi: 10.1007/BF00434661. [DOI] [PubMed] [Google Scholar]
  98. Wallace D. C., Zheng X. X., Lott M. T., Shoffner J. M., Hodge J. A., Kelley R. I., Epstein C. M., Hopkins L. C. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell. 1988 Nov 18;55(4):601–610. doi: 10.1016/0092-8674(88)90218-8. [DOI] [PubMed] [Google Scholar]
  99. Ward R. H., Frazier B. L., Dew-Jager K., Päbo S. Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8720–8724. doi: 10.1073/pnas.88.19.8720. [DOI] [PMC free article] [PubMed] [Google Scholar]
  100. Ward R. H., Redd A., Valencia D., Frazier B., Päbo S. Genetic and linguistic differentiation in the Americas. Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10663–10667. doi: 10.1073/pnas.90.22.10663. [DOI] [PMC free article] [PubMed] [Google Scholar]
  101. Wrischnik L. A., Higuchi R. G., Stoneking M., Erlich H. A., Arnheim N., Wilson A. C. Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Res. 1987 Jan 26;15(2):529–542. doi: 10.1093/nar/15.2.529. [DOI] [PMC free article] [PubMed] [Google Scholar]
  102. de Vries D. D., van Engelen B. G., Gabreëls F. J., Ruitenbeek W., van Oost B. A. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol. 1993 Sep;34(3):410–412. doi: 10.1002/ana.410340319. [DOI] [PubMed] [Google Scholar]
  103. van den Ouweland J. M., Lemkes H. H., Ruitenbeek W., Sandkuijl L. A., de Vijlder M. F., Struyvenberg P. A., van de Kamp J. J., Maassen J. A. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992 Aug;1(5):368–371. doi: 10.1038/ng0892-368. [DOI] [PubMed] [Google Scholar]
  104. van den Ouweland J. M., Lemkes H. H., Trembath R. C., Ross R., Velho G., Cohen D., Froguel P., Maassen J. A. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. Diabetes. 1994 Jun;43(6):746–751. doi: 10.2337/diab.43.6.746. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES