{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T20:25:23Z","timestamp":1764793523935},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1995,2,1]],"date-time":"1995-02-01T00:00:00Z","timestamp":791596800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1995,2]]},"DOI":"10.1038\/ng0295-146","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T21:14:37Z","timestamp":1092863677000},"page":"146-151","source":"Crossref","is-referenced-by-count":178,"title":["An autosomal locus predisposing to deletions of mitochondrial DNA"],"prefix":"10.1038","volume":"9","author":[{"given":"Anu","family":"Suomalainen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jyrki","family":"Kaukonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Amati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritva","family":"Timonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matti","family":"Haltia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Weissenbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannu","family":"Somer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Peltonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BFng0295146_CR1","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1146\/annurev.bi.61.070192.005523","volume":"61","author":"DC Wallace","year":"1992","unstructured":"Wallace, D.C. Diseases of the mitochondrial DNA. Ann. Rev. Biochem. 61, 1175\u20131212 (1992).","journal-title":"Ann. Rev. Biochem."},{"key":"BFng0295146_CR2","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/0968-0004(91)90043-U","volume":"16","author":"DA Clayton","year":"1991","unstructured":"Clayton, D.A. Nuclear gadgets in mitochondrial DNA replication and transcription. Trends Biochem. 16, 107\u2013111 (1991).","journal-title":"Trends Biochem."},{"key":"BFng0295146_CR3","doi-asserted-by":"publisher","first-page":"1309","DOI":"10.1073\/pnas.91.4.1309","volume":"91","author":"JV Virbasius","year":"1994","unstructured":"Virbasius, J.V. & Scarpulla, R.C. Activation of the human mitochondrial transcription factor A gene by nuclear respiratory factors: A potential regulatory link between nuclear and mitochondrial gene expression In organelle biogenesis. Proc. natn. Acad. Sci. U.S.A. 91, 1309\u20131313 (1994).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng0295146_CR4","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/0092-8674(93)90050-Z","volume":"72","author":"X Liao","year":"1993","unstructured":"Liao, X. & Butow, R.A. RTG1 and RTG2: Two yeast genes required for a novel path of communication from mitochondria to the nucleus. Cell 72, 61\u201371 (1993).","journal-title":"Cell"},{"key":"BFng0295146_CR5","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1038\/339309a0","volume":"339","author":"M Zeviani","year":"1989","unstructured":"Zeviani, M. et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339, 309\u2013311 (1989).","journal-title":"Nature"},{"key":"BFng0295146_CR6","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1212\/WNL.41.7.1053","volume":"41","author":"S Servidei","year":"1991","unstructured":"Servidei, S. et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic and biochemical studies. Neurology 41, 1053\u20131059 (1991).","journal-title":"Neurology"},{"key":"BFng0295146_CR7","doi-asserted-by":"publisher","first-page":"1352","DOI":"10.1016\/0006-291X(89)91818-4","volume":"164","author":"M Yuzaki","year":"1989","unstructured":"Yuzaki, M., Ohkoshi, N., Kanazawa, I., Kagawa, Y. & Ohta, S. Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy. Biochem. biophys. Res. Commun. 164, 1352\u20131357 (1989).","journal-title":"Biochem. biophys. Res. Commun."},{"key":"BFng0295146_CR8","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1016\/0006-291X(90)92079-F","volume":"167","author":"M Otsuka","year":"1990","unstructured":"Otsuka, M. et al. Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy. Biochem. biophys. Res. Commun. 167, 680\u2013685 (1990).","journal-title":"Biochem. biophys. Res. Commun."},{"key":"BFng0295146_CR9","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1172\/JCI115856","volume":"90","author":"A Suomalainen","year":"1992","unstructured":"Suomalainen, A. et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J. clin. Invest. 90, 61\u201366 (1992).","journal-title":"J. clin. Invest."},{"key":"BFng0295146_CR10","first-page":"643","volume":"48","author":"V Cormier","year":"1991","unstructured":"Cormier, V. et al. Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. Am. J. hum. Genet. 48, 643\u2013648 (1991).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0295146_CR11","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1016\/0140-6736(92)92496-3","volume":"340","author":"A Suomalainen","year":"1992","unstructured":"Suomalainen, A. et al. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet 340, 1319\u20131320 (1992).","journal-title":"Lancet"},{"key":"BFng0295146_CR12","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1002\/ana.410290406","volume":"29","author":"K Ohno","year":"1991","unstructured":"Ohno, K. et al. Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann. Neurol. 29, 364\u2013369 (1991).","journal-title":"Ann. Neurol."},{"key":"BFng0295146_CR13","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1212\/WNL.44.4.721","volume":"44","author":"M Hirano","year":"1994","unstructured":"Hirano, M. et al. Mitochondrial neurogastrolntestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44, 721\u2013727 (1994).","journal-title":"Neurology"},{"key":"BFng0295146_CR14","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/ng0694supp-246","volume":"7","author":"G Gyapay","year":"1994","unstructured":"Gyapay, G. et al. The 1993\u201394 G\u00e9n\u00e9thon human genetic linkage map. Nature Genet. 7, 246\u2013339 (1994).","journal-title":"Nature Genet."},{"key":"BFng0295146_CR15","doi-asserted-by":"publisher","first-page":"4175","DOI":"10.1073\/pnas.86.11.4175","volume":"86","author":"J Ott","year":"1989","unstructured":"Ott, J. Computer-simulation methods in human linkage analysis. Proc. natn. Acad. Sci. U.S.A. 86, 4175\u20134178 (1989).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng0295146_CR16","first-page":"A204","volume":"47","author":"DE Weeks","year":"1990","unstructured":"Weeks, D.E., Ott, J. & Lathrop, G.M. SLINK: a general simulation program for linkage analysis. Am. J. hum. Genet. (suppl.) 47, A204 (1990).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0295146_CR17","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"GM Lathrop","year":"1984","unstructured":"Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443\u20133446 (1984).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng0295146_CR18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1006\/geno.1994.1338","volume":"22","author":"DT Moir","year":"1994","unstructured":"Moir, D.T. et al. Toward a physical map of human chromosome 10: isolation of 183 YACs representing 80 loci and regional assignment of 94 YACs by fluorescence in situ hybridization. Genomics 22, 1\u201312 (1994).","journal-title":"Genomics"},{"key":"BFng0295146_CR19","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1006\/geno.1994.1345","volume":"22","author":"C-j Zheng","year":"1994","unstructured":"Zheng, C.-j. et al. Development of 124 sequence-tagged sites and cytogenetic localization of 217 cosmids for human chromosome 10. Genomics 22, 55\u201367 (1994).","journal-title":"Genomics"},{"key":"BFng0295146_CR20","first-page":"203","volume-title":"Analysis of Human Genetic Linkage","author":"J Ott","year":"1991","unstructured":"Ott, J. Analysis of Human Genetic Linkage rev. edn. 203\u2013216 (Johns Hopkins Univ. Press, Baltimore, 1991)."},{"key":"BFng0295146_CR21","doi-asserted-by":"crossref","unstructured":"Tiranti, V. et al. Chromosomal localization of mitochondrial transcription factor A, single-stranded DNA binding protein and endonuclease G, three human housekeeping genes involved in mitochondrial biogenesis. Genomics, in the press.","DOI":"10.1016\/0888-7543(95)80058-T"},{"key":"BFng0295146_CR22","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1126\/science.2035027","volume":"252","author":"MA Parisi","year":"1991","unstructured":"Parisi, M.A. & Clayton, D.A. Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. Science 252, 985\u2013969 (1991).","journal-title":"Science"},{"key":"BFng0295146_CR23","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1093\/nar\/18.3.561","volume":"18","author":"S Mita","year":"1990","unstructured":"Mita, S. et al. Recombination via flanking direct repeats is a major cause of large\u2013scale deletions of human mitochondrial DNA. Nucleic Acids Res. 18, 561\u2013567 (1990).","journal-title":"Nucleic Acids Res."},{"key":"BFng0295146_CR24","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1007\/BF01799604","volume":"15","author":"M Zeviani","year":"1992","unstructured":"Zeviani, M. Nucleus-driven mutations of human mitochondrial DNA. J. inner. metab. Dis. 15, 456\u2013471 (1992).","journal-title":"J. inner. metab. Dis."},{"key":"BFng0295146_CR25","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1093\/brain\/116.2.325","volume":"116","author":"A Oldfors","year":"1993","unstructured":"Oldfors, A., Larsson, N.-G., Lindberg, C. & Holme, E. Mitochondrial DNA deletions in inclusion body myositis. Brain 116, 325\u2013336 (1993).","journal-title":"Brain"},{"key":"BFng0295146_CR26","doi-asserted-by":"publisher","first-page":"6927","DOI":"10.1093\/nar\/18.23.6927","volume":"18","author":"GA Cortopassi","year":"1990","unstructured":"Cortopassi, G.A. & Amheim, N. Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res. 18, 6927\u20136933 (1990).","journal-title":"Nucleic Acids Res."},{"key":"BFng0295146_CR27","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1038\/ng1292-324","volume":"2","author":"M Corral-Debrinski","year":"1992","unstructured":"Corral-Debrinski, M. et al. Mitochondrial DNA deletions In human brain: Regional variability and Increase with advanced age. Nature Genet. 2, 324\u2013329 (1992).","journal-title":"Nature Genet."},{"key":"BFng0295146_CR28","doi-asserted-by":"crossref","first-page":"3358","DOI":"10.1016\/S0021-9258(19)50739-6","volume":"267","author":"RP Fisher","year":"1992","unstructured":"Fisher, R.P., Lisowsky, T., Parisi, M.A. & Clayton, D.A. DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein. J. biol. Chem. 267, 3358\u20133367 (1992).","journal-title":"J. biol. Chem."},{"key":"BFng0295146_CR29","doi-asserted-by":"crossref","first-page":"12758","DOI":"10.1016\/S0021-9258(18)31453-4","volume":"268","author":"TL Megraw","year":"1993","unstructured":"Megraw, T.L. & Chae, C.-B. Functional complementarity between the HMG1-like yeast mitochondrial histone HM and the bacterial histone-like protein HU. J. biol. Chem. 268, 12758\u201312763 (1993).","journal-title":"J. biol. Chem."},{"key":"BFng0295146_CR30","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1038\/290457a0","volume":"290","author":"S Anderson","year":"1981","unstructured":"Anderson, S. et al. Sequence and organization of the human mitochondrial genome. Nature 290, 457\u2013465 (1981).","journal-title":"Nature"},{"key":"BFng0295146_CR31","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1038\/ng0994-83","volume":"8","author":"J Aaltonen","year":"1994","unstructured":"Aaltonen, J., Bj\u00f6rses, P., Sandkuijl, L., Perheentupa, J. & Peltonen, L. An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nature Genet. 8, 83\u201387 (1994).","journal-title":"Nature Genet."},{"key":"BFng0295146_CR32","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1093\/hmg\/2.5.525","volume":"2","author":"A Suomalainen","year":"1993","unstructured":"Suomalainen, A., Majander, A., Pihko, H., Peltonen, L. & Syv\u00e4nen, A.-C. Quantification of tRNA3243Leu point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription. Hum. molec. Genet. 2, 525\u2013534 (1993).","journal-title":"Hum. molec. Genet."},{"key":"BFng0295146_CR33","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/0167-4781(92)90082-B","volume":"1131","author":"K Tominaga","year":"1992","unstructured":"Tominaga, K., Akiyama, S., Kagawa, Y. & Ohta, S. Upstream region of a genomic gene for human mitochondrial transcription factor 1. Biochim. Biophys. Acta 1131, 217\u2013219 (1992).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFng0295146_CR34","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/0014-5793(89)81618-7","volume":"258","author":"A-C Syv\u00e4nen","year":"1989","unstructured":"Syv\u00e4nen, A.-C., Aalto-Set\u00e4l\u00e4, K., Kontula, K. & S\u00f6deriund, H. Direct sequencing of affinity-captured amplified human DNA: application to the detection of apolipoprotein E polymorphism. FEBS Lett. 258, 71\u201374 (1989).","journal-title":"FEBS Lett."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0295-146","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0295-146.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0295-146.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:21:52Z","timestamp":1684441312000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0295-146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,2]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,2]]}},"alternative-id":["BFng0295146"],"URL":"https:\/\/doi.org\/10.1038\/ng0295-146","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,2]]}}}