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  • Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon J-M, Roostalu U, Loogväli E-L, Kivisild T, Bandelt H-J, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A. 2004. The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75:910918.
  • Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. 2008. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations. Hum Mutat 29:248257.
  • Bandelt H-J, Kong Q-P, Richards M, Macaulay V. 2006a. Estimation of mutation rates and coalescence times: some caveats. In: BandeltH-J, MacaulayV, RichardsM, editors. Human mitochondrial DNA and the evolution of Homo sapiens. Berlin: Springer-Verlag. p. 4790.
  • Bandelt H-J, Salas A, Bravi CM. 2006b. What is a “novel” mtDNA mutation—and does “novelty” really matter? J Hum Genet 51:10731082.
  • Bandelt H-J, Yao Y-G, Salas A. 2008. The search of “novel” mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor. Int J Cardiol 126:439442.
  • Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC. 2005. MITOMAP: a human mitochondrial genome database—2004 update. Nucleic Acids Res 33:D611D613.
  • Brandstätter A, Sänger T, Lutz-Bonengel S, Parson W, Béraud-Colomb E, Wen B, Kong Q-P, Bravi CM, Bandelt H-J. 2005. Phantom mutation hotspots in human mitochondrial DNA. Electrophoresis 26:34143429.
  • Chae JH, Lee JS, Kim KJ, Hwang YS, Bonilla E, Tanji K, Hirano M. 2007. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Pediatr Res 61:622624.
  • Chrzanowska-Lightowlers ZMA, Temperley RJ, Smith PM, Seneca SH, Lightowlers RN. 2004. Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons. Biochem J 377:725731.
  • Derenko M, Malyarchuk B, Grzybowski T, Denisova G, Dambueva I, Perkova M, Dorzhu C, Luzina F, Lee HK, Vanecek T, Villems R, Zakharov I. 2007. Phylogeographic analysis of mitochondrial DNA in northern Asian populations. Am J Hum Genet 81:10251041.
  • Fraumene C, Belle EMS, Castrì L, Sanna S, Mancosu G, Cosso M, Marras F, Barbujani G, Pirastu M, Angius A. 2006. High resolution analysis and phylogenetic network construction using complete mtDNA sequences in Sardinian genetic isolates. Mol Biol Evol 23:21012111.
  • Hinttala R, Smeets R, Moilanen JS, Ugalde C, Uusimaa J, Smeitink JA, Majamaa K. 2006. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. J Med Genet 43:881886.
  • Hinttala R. 2007. Genetic causes of mitochondrial complex I deficiency in children. Academic dissertation, University of Oulu, Oulu, Finland (Acta Univ Oul D Medica 904).
  • Ingman M, Kaessmann H, Pääbo S, Gyllensten U. 2000. Mitochondrial genome variation and the origin of modern humans. Nature 408:708713.
  • Jacobs HT, Hutchin TP, Käppi T, Gillies G, Minkkinen K, Walker J, Thompson K, Rovio AT, Carella M, Melchionda S, Zelante L, Gasparini P, Pyykkö I, Shah ZH, Zeviani M, Mueller RF. 2005. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 13:2633.
  • Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. 2001. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. J Med Genet 38:665673.
  • Janssen GMC, Neu A, 't Hart LM, van de Sande CMT, Antonie Maassen J. 2006. Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness. Exp Clin Endocrinol Diabetes 114:168174.
  • Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. 2004. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest 114:837845.
  • Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman M, Cavalli-Sforza LL, Oefner PJ. 2006. The role of selection in the evolution of human mitochondrial genomes. Genetics 172:373387.
  • Kong Q-P, Yao Y-G, Sun C, Bandelt H-J, Zhu C-L, Zhang Y-P. 2003. Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73:671676 [Erratum: 2004;75:157].
  • Maca-Meyer N, González AM, Larruga JM, Flores C, Cabrera VM. 2001. Major genomic mitochondrial lineages delineate early human expansions. BMC Genet 2:13.
  • Malyarchuk BA, Perkova MA, Derenko MV, Vanecek T, Lazur J, Gomolcak P. 2008. Mitochondrial DNA variability in Slovaks, with application to the Roma origin. Ann Hum Genet 72:228240.
  • Manfredi G, Schon EA, Bonilla E, Moraes CT, Shanske S, DiMauro S. 1996. Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. Hum Mutat 7:158163.
  • Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC. 2003. Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci USA 100:171176.
  • Olivieri A, Achilli A, Pala M, Battaglia V, Fornarino S, Al-Zahery N, Scozzari R, Cruciani F, Behar DM, Dugoujon JM, Coudray C, Santachiara-Benerecetti AS, Semino O, Bandelt H-J, Torroni A. 2006. The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa. Science 314:17671770.
  • Ozawa T, Tanaka M, Sugiyama S, Ino H, Ohno K, Hattori K, Ohbayashi T, Ito T, Deguchi H, Kawamura K, Nakane Y, Hashiba K. 1991. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun 177:518525.
  • Quintana-Murci L, Quach H, Harmant C, Luca F, Massonnet B, Patin E, Sica L, Mouguiama-Daouda P, Comas D, Tzur S, Balanovsky O, Kidd KK, Kidd JR, van der Veen L, Hombert JM, Gessain A, Verdu P, Froment A, Bahuchet S, Heyer E, Dausset J, Salas A, Behar DM. 2008. Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers. Proc Natl Acad Sci USA 105:15961601.
  • Santorelli FM, Siciliano G, Casali C, Basirico MG, Carrozzo R, Calvosa F, Sartucci F, Bonfiglio L, Murri L, DiMauro S. 1997. Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy. Neuromuscul Disord 7:156159.
  • Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V. 2007. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 143:3341.
  • Sato A, Endo H, Umetsu K, Sone H, Yanagisawa Y, Saigusa A, Aita S, Kagawa Y. 2003. Polymorphism, heteroplasmy, mitochondrial fusion and diabetes. Biosci Rep 23:313337.
  • Sonnenschein A. 2006. Mitochondriale DNA Mutationen und Untersuchungen zum oxidativen Stress beim idiopathischen Parkinsonsyndrom (Mitochondrial DNA mutations and analyses of oxidative stress in Parkinson's disease) [in German]. Doctoral Dissertation, Technische Universität Dresden, Dresden, Germany, 138p.
  • Steffann J, Gigarel N, Frydman N, Burlet P, Kerbrat V, Tachdjian G, Bonnefont JP, Frydman R, Munnich A. 2007. Preimplantation diagnosis for mitochondrial DNA disorders: contribution to understanding mitochondrial DNA segregation during early human embryonic development. Presented at the 57th Annual Meeting of the American Society of Human Genetics, October 23–27, 2007, San Diego, CA. Platform Presentation 196 (Abstract). Available at: www.ashg.org/genetics/ashg07s/f20479.htm. Last accessed: June 11, 2008.
  • Sternberg D, Danan C, Lombès A, Laforêt P, Girodon E, Goossens M, Amselem S. 1998. Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. Hum Mol Genet 7:3342.
  • Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A. 2001. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain 124:984994.
  • Sun C, Kong Q-P, Palanichamy Mg, Agrawal S, Bandelt H-J, Yao Y-G, Khan F, Zhu C-L, Chaudhuri TK, Zhang Y-P. 2006. The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as inferred from complete genomes. Mol Biol Evol 23:683690.
  • Tanaka M, Cabrera VM, González AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ, Hirose R, Fujita Y, Kurata M, Shinoda K, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H. 2004. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14:18321850.
  • Tchikviladzé M, Laforêt P, Eymard B, Delbos F, Filaut S, Lombès A, Jardel C. 2007. A novel mutation in the mitochondrial ND3 gene causing Leigh syndrome with late-onset neurological decline [Abstract]. Neuromuscul Disord 17:769.
  • Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Calderon FL, Simionati B, Valle G, Richards M, Macaulay V, Scozzari R. 2001. Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet 69:13481356.
  • Trejaut JA, Kivisild T, Loo JH, Lee CL, He CL, Hsu CJ, Lee ZY, Lin M. 2005. Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations. PLoS Biol 3:e247.
  • Vilmi T, Moilanen JS, Finnilä S, Majamaa K. 2005. Sequence variation in the tRNA genes of human mitochondrial DNA. J Mol Evol 60:587597.
  • Wang K, Takahashi Y, Gao Z, Goto J, Wang G, Tsuji S. 2006. Mitochondrial ND3 gene as the novel causative gene for leber hereditary optic neuropathy and dystonia. Ann Neurol 60:S55S56 (Abstract M-87).
  • Wong L-JC, Liang M-H, Kwon H, Park J, Bai R-K, Tan D-J. 2002. Comprehensive scanning of the entire mitochondrial genome for mutations. Clin Chem 48:19011912.
  • Wong L-JC. 2007. Pathogenic mitochondrial DNA mutations in protein-coding genes. Muscle Nerve 36:279293.
  • Yao Y-G, Salas A, Bravi CM, Bandelt H-J. 2006. A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 119:505515.
  • Young W-Y, Zhao L, Qian Y, Li R, Chen J, Yuan H, Dai P, Zhai S, Han D, Guan M-X. 2006. Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss. Am J Med Genet A 140:21882197.
  • Zhao L, Wang Q, Qian Y, Li R, Cao J, Hart LC, Zhai S, Han D, Young W-Y, Guan M-X. 2005. Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss. Biochem Biophys Res Commun 336:967973.