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Wanrooij S, Goffart S, Pohjoismäki JL, Yasukawa T, Spelbrink JN (2007) Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. Nucleic Acids Res. (Epub ahead of print, accepted 27 March 2007) Pohjoismäki JL, Wanrooij S, Hyvärinen AK, Goffart S, Holt IJ, Spelbrink JN, Jacobs HT (2006) Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells. Nucleic Acids Res. 34(20):5815-28. Kirino Y, Yasukawa T, Marjavaara SK, Jacobs HT, Holt IJ, Watanabe K, Suzuki T (2006) Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect. Hum Mol Genet 15(6), 897-904. Hakkaart GA, Dassa EP, Jacobs HT, Rustin P (2006) Allotopic expression of a mitochondrial alternative oxidase confers cyanide-resistance to human cell respiration. EMBO Rep. Mar;7(3):341-5. (in press, e-pub before print). Smeitink JA, Zeviani M, Turnbull DM, Jacobs HT (2006) Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab. 3, 9-13. Trifunovic A, Hansson A, Wredenberg A, Rovio AT, Dufour E, Khvorostov I, Spelbrink JN, Wibom R, Jacobs HT, Larsson NG (2005) Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production. Proc Natl Acad Sci USA 102(50), 17993-17998. Turner CJ, Granycome C, Hurst R, Pohler E, Juhola MK, Juhola MI, Jacobs HT, Sutherland L, Holt IJ (2005) Systematic segregation to mutant mitochondrial DNA abd accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma cybrids. Genetics 170, 1879-1885. Yasukawa T, Kirino Y, Ishii N, Holt IJ, Jacobs HT, Makifuchi T, Fukuhara N, Ohta S, Suzuki T, Watanabe K (2005) Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases . FEBS Lett. 579, 2948-2952. Yasukawa T, Yang MY, Jacobs HT, Holt IJ (2005) A bidirectional origin of replication maps to the major noncoding region of human mitochondrial DNA. Mol. Cell 18, 651-662. Endo K, Noguchi Y, Ueshima R, Jacobs HT (2004) Novel repetitive structures, deviant protein-encoding sequences and unidentified ORFs in the mitochondrial genome of the brachiopod Lingula anatina. J. Mol. Evol. 61, 36-53. Jacobs HT, Turnbull DM (2005) Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends in Genet. 21, 312-314. Jacobs HT (2005) Le Prix Descartes: pour entrer dans la cour des grands. Pour la Science 327, 6. Toompuu M, Levinger LL, Nadal A, Gomez J, Jacobs HT (2004) The 7472insC mtDNA mutation impairs 5´ and 3´ processing of tRNASer(UCN). Biochem. Biophys. Res. Commun. 322, 803-813. Jacobs HT, Fernández-Ayala DJM, Manjiry S, Kemppainen E, Toivonen JM, O’Dell KMC (2004) Mitochondrial disease in flies. Biochim. Biophys. Acta 1659, 190-196. Smeitink J, Jacobs HT (2004) The Euromit meetings: an international platform for the understanding and combat of mitochondrial disease. Biochim. Biophys. Acta 1659, 105-106. 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, non-syndromic hearing impairment. Eur. J. Hum. Genet. 13, 26-33. Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Jacobs HT, Törnell J, Larsson NG (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429, 417-423. Andres AM, Soldevila M, Lao O, Volpini V, Saitou N, Jacobs HT, Hayasaka I, Calafell F, Bertranpetit JM (2004) Comparative genetics of functional trinucleotide tandem repeats in humans and apes. J. Mol. Evol. 59, 329-339. Rovio AT, Abel J, Ahola AL, Andres AM, Bertranpetit J, Blancher A, Bontrop RE, Chemnick LG, Cooke HJ, Cummins JM, Davis HL, Elliott DJ, Fritsche E, Hargreave TB, Hoffman SMG, Jequier AM, Kao SH, Kim HS, Marchington DR, Mehmet D, Otting N, Poulton J, Ryder OA, Schuppe HC, Takenaka O, Wei YH, Wichmann L, Jacobs HT (2004) A prevalent POLG CAG microsatellite length allele in humans and African great apes. Mammalian Genome 15, 492-502. Jacobs H (2004) Award goes to genome research: Anu Wartiovaara receives the Anders Jahre Award for young researcher. Duodecim 120, 15-16. Holt IJ, Jacobs HT (2003) Response: the mitochondrial DNA replication bubble has not burst. Trends Biochem. Sci. 28, 355-356. Bowmaker M, Yang MY, Yasukawa T, Reyes A, Jacobs HT, Huberman JA, Holt IJ (2003) Mammalian mitochondrial DNA replicates from an initiation zone. J. Biol. Chem. 278, 50961-50969. Arenas J, Briem E, Dahl H, Hutchison W, Lewis S, Martin MA, Spelbrink H, Tiranti V, Jacobs H, Zeviani M (2003) The V368i mutation in Twinkle does not segregate with AdPEO. Ann Neurol. 53, 278. Toivonen JM, Manjiry S, Touraille S, Alziari S, O’Dell KMC, Jacobs HT (2003) Gene dosage and selective expression modify phenotype in a Drosophila model of human mitochondrial disease. Mitochondrion 3, 83-96. Jacobs HT (2003) Disorders of mitochondrial protein synthesis. Hum. Mol. Genet. 12, R293-R301. Jacobs HT (2003) The mitochondrial theory of aging: dead or alive? Aging Cell 2, 11-17. Yang M, Bowmaker M, Reyes A, Vergani L, Angeli P, Gringeri E, Jacobs HT, Holt IJ (2002) Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell 111, 495-505. Toompuu M, Yasukawa T, Suzuki T, Hakkinen T, Spelbrink JN, Watanabe K, Jacobs HT (2002) The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation and rate of synthesis of tRNASer(UCN) but not its structure or rate of turnover. J. Biol. Chem. 277, 22240-22250. Lehtinen SK, Spelbrink JN, Jacobs HT (1999) Heteroplasmic segregation associated with trisomy-9 in cultured human cells. Somat. Cell Mol. Genet. 25, 263-274 (accepted 2002 but journal volume dated 1999). Kajander OA, Karhunen PJ, Jacobs HT (2002) The relationship between somatic mtDNA rearrangements, human heart disease and aging. Hum. Mol. Genet. 11, 317-324. Kajander OA, Karhunen PJ, Holt IJ, Jacobs HT (2001) Prominent mitochondrial DNA recombination intermediates in human heart muscle. EMBO Rep. 2, 1007-1012. Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D, Harrison RF, Hughes B, Barrett T, Bailey DMD, Mehmet D, JequierAM, Hargreave TB, Kao SH, Cummins JM, Barton DE, Cooke HJ, Wei YH, Wichmann L, Poulton J, Jacobs HT (2001) Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nature Genetics 29, 261-262. Toivonen JM, O’Dell KMC, Petit N, Irvine S, Knight GK, Lehtonen M, Longmuir M, Touraille S, Wang Z, Alziari S, Shah ZH, Jacobs HT (2001) technical knockout, a Drosophila model of mitochondrial deafness. Genetics 159, 241-254. Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Poulton J, Croxen R, Beeson D, Suomalainen A, Jacobs HT, Zeviani M, Larsson C (2001) Human mitochondrial DNA deletions associated with mutations in the gene for Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genetics 28, 223-231. Shah ZH, Toompuu M, Hakkinen T, Rovio A, Smith RJH, Cremers FP, Cremers CWRJ, Jacobs HT (2001) Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families. Hum. Mutation 17, 433-434. Kajander OA, Rovio AT, Majamaa K, Poulton J, Spelbrink JN, Holt IJ, Karhunen PJ, Jacobs HT (2000) Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states. Hum. Mol. Genet. 9, 2821-2835. Spelbrink JN, Toivonen JM, Hakkaart GAJ, Kurkela JM, Cooper HM, Lehtinen SK, Lecrenier N, Back JW, Speijer D, Foury F, Jacobs HT (2000) In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells. J. Biol. Chem. 275, 24818-24828 Juhola MK, Shah ZH, Grivell LA, Jacobs HT (2000) The mitochondrial inner membrane AAA metalloprotease family in metazoans. FEBS. Lett. 481, 91-95. Shah ZH, Hakkaart GA, Arku B, de Jong L, van der Spek H, Grivell LA, Jacobs HT (2000) The human homologue of the yeast mitochondrial AAA metalloprotease Yme1p complements a yeast yme1 disruptant. FEBS. Lett. 478, 267-270. Jacobs HT, Lehtinen SK, Spelbrink JN (2000) No sex please, we're mitochondria: a hypothesis on the unit of inheritance of mammalian mtDNA. BioEssays 22, 564-572. Holt IJ, Lorimer HE, Jacobs HT (2000) Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA. Cell. 100, 515-524. Jacobs HT, Holt IJ (2000) The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't . Hum. Mol. Genet. 9, 463-465. Lehtinen SK, Hance N, El Meziane A, Juhola MK, Juhola KMI, Karhu R, Spelbrink JN, Holt IJ, Jacobs HT (2000) Genotypic stability, segregation and selection in heteroplasmic human cell-lines containing np 3243 mutant mtDNA. Genetics 154, 363-380. |