Summary
Mitochondrial DNA (mtDNA) from 116 Japanese was analyzed with nine restriction enzymes that recognize a four or five base pair sequence. The sizes of the mtDNA fragments produced by digestion by each enzyme were compared after gel electrophoresis. Double digestion experiments indicated that, in the coding region from URF2 (unidentified reading frame) to tRNAAsn (bp 5274–5691), there is an insertion of about 60 base pairs (bp) compared with the published mtDNA sequence, which is common to all individuals in the present sample. A total of 95 different morphs were detected with the nine enzymes, 60 of which have not been documented previously. Based on a comparison of the cleavage maps of all individuals, 62 different combinations of restriction types were observed. By pairwise comparison of each restriction type, the average number of nucleotide substitutions per nucleotide site (δ) was estimated to be 0.0026. Phylogenetic analysis of the present data indicates that at least two distinct lineages exist in the Japanese population.
Similar content being viewed by others
References
Adams J, Rothman ED (1982) Estimation of phylogenetic relationships from DNA restriction patterns and selection of endonuclease cleavage sites. Proc Natl Acad Sci USA 79:3560–3564
Anderson S, Bankier AT, Barrell BG, de Bruijin MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465
Blane H, Chen K, D'Amore MA, Wallace DC (1983) Amino acid change associated with the major polymorphic Hinc II site of Oriental and Caucasian mitochondrial DNAs. Am J Hum Genet 35:167–176
Brown WM (1980) Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc Natl Acad Sci USA 77:3605–3609
Brown WM, Goodman HM (1979) Quantitation of intrapopulation variation by restriction endonuclease analysis of human mitochondrial DNA. In: Cummings D, Borst P, Dawid I, Weissman S, Fox CF (eds) Extrachromosomal DNA. Academic Press, New York London, pp 485–500 (ICN-UCLA symposia)
Brown WM, Prager EM, Wang A, Wilson AC (1982) Mitochondrial DNA sequence of primates: tempo and mode of evolution. J Mol Evol 18:225–239
Cann RL (1982) The evolution of human mitochondrial DNA. PhD thesis, University of California, Berkeley
Cann RL, Wilson AC (1983) Length mutations in human mitochondrial DNA. Genetics 104:699–711
Cann RL, Brown WM, Wilson AC (1982) Evolution of human mitochondrial DNA: a preliminary report. In: Bonne-Tamir B, Cohen P, Goodman RN (eds) Human genetics, part A: The unfolding genome. Liss, New York, pp 157–165
Cann RL, Brown WM, Wilson AC (1984) Polymorphic sites and the mechanisms of evolution in human mitochondrial DNA. Genetics 106:479–499
Denaro M, Blanc H, Johnson MJ, Chen KH, Wilmsen E, Cavalli-Sforza LL, Wallace DC (1981) Ethnic variation in Hpa I endonuclease cleavage patterns of human mitochondrial DNA. Proc Natl Acad Sci USA 78:5768–5772
Horai S, Gojobori T, Matsunaga E (1984) Mitochondrial DNA polymorphism in Japanese. I. Analysis with restriction enzymes of six base pair recognition. Hum Genet 68:324–332
Johnson MJ, Wallace DC, Gerris SD, Rattazzi MC, Cavalli-Sforza LL (1983) Radiation of human mitochondrial DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol 19:255–271
Nei M (1975) Molecular population genetics and evolution. North-Holland, Amsterdam New York
Nei M, Li W-H (1979) Mathematical model for studying genetic variation in terms of restriction endonucleases. Proc Natl Acad Sci USA 76:5269–5273
Sarich VM, Wilson AC (1967) Immunological time scale for hominid evolution. Science 158:1200–1203
Sokal RR, Sneath PHA (1963) Prmciples of numerical taxonomy. Freeman, San Francisco
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Horai, S., Matsunaga, E. Mitochondrial DNA polymorphism in Japanese. Hum Genet 72, 105–117 (1986). https://doi.org/10.1007/BF00283927
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00283927