Summary
Human mitochondrial DNA (mtDNA) restriction endonuclease fragment patterns were analyzed using total blood cell DNA isolated from 200 individuals representing five different populations. Thirty-two fragment patterns (morphs) were observed with the enzymes Hpa I, Bam HI, Hae II, Msp I and Ava II yielding thirty-five different combinations of fragment patterns (mt DNA types). The major ethnic groups exhibit quantitative as well as qualitative differences in their mtDNA types, all of which are related to each other by a tree in which the closely related mtDNA types cluster according to geographic origin.
Three mtDNA types are postulated to be ‘central’ to ethnic radiations due to their high frequencies, their appearance in more than one ethnic group, or their presence in other primate species. Genetic distances among populations were computed and employed in construction of an average linkage tree. If one of the three central mtDNA types is the root of the tree, differences in evolutionary rates among the branches become apparent. In particular, the Bushmen appear to have a higher evolutionary rate for mtDNA than the other four populations. Comparisons with nuclear gene frequencies suggest that this higher evolutionary rate may be the product of an elevated mutation rate or fixation of mutations in mtDNA.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
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 Bruijn 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 290:457–474
Aquadro CF, Greenberg BD (1982) Human mitochondrial DNA sequence variation and evolution. Genetics 103:287–312
Avise JC, Lansman RA, Shade RO (1979a) The use of restriction endonucleases to measure mitochondrial DNA sequence relatedness in natural populations. I. Population structure and evolution in the genus peromyscus. Genetics 92:279–295
Avise JC, Giblin-Davidson C, Laerm J, Patton JC, Lansman RA (1979b) Mitochondrial DNA clones and matriarchal phylogeny within and among geographic populations of the pocket gopher,Geomys pinetis. Proc Natl Acad Sci USA 76:6694–6698
Blanc H, Chen K-H, D'Amore MA, Wallace DC (1983) Amino acid change associated with the major polymorphic HincII site of Oriental and Caucasian mitochondrial DNAs. Am J Human Genet 35:167–176
Bodmer WF, Cavalli-Sforza LL (1971) Variation in fitness and molecular evolution. Proceedings of the Sixth Berkeley Symposium on Mathematical Statistics and Probability, pp 255–275
Brown GG, Castora FJ (1981) Mitochondrial DNA polymorphism: evolutionary studies on the genusRattus. Ann NY Acad Sci 135–153
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 (1981) Mechanisms of evolution in animal mitochondrial DNA. Ann NY Acad Sci 119–133
Brown WM, George M Jr, Wilson AC (1979) Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci USA 76:1967–1971
Brown WM, Goodman HM (1979) Quantitation of intrapopulation variation by restriction endonuclease analysis of human mitochondrial DNA. ICN-UCLA Symposia on Molecular and Cellular Biology, Volume XV, pp 485–499
Brown WM, Prager EM, Wang A, Wilson AC (1982) Mitochondrial DNA sequences of primates: tempo and mode of evolution. J Mol Evol 18:225–239
Cann RL, Brown WM, Wilson AC (1982) Evolution of human mitochondrial DNA: a preliminary report. Human Genetics, Part A: The Unfolding Genome, Alan R. Liss, Inc, New York, pp 157–165
Case JT, Wallace DC (1982) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts. Som Cell Genet 7:103–108
Castora FJ, Arnheim N, Simpson MV (1980) Mitochondrial DNA polymorphism: evidence that variants detected by restriction enzymes differ in nucleotide sequence rather than in methylation. Proc Natl Acad Sci USA 77:6415–6419
Cavalli-Sforza LL (1969) Human diversity. Proceedings of the 12th International Congress of Genetics, ed. Oshima C (Dai Nippon, Tokyo) Vol 3, 405–416
Cavalli-Sforza LL, Bodmer WF (1971)The Genetics of Human Populations, WH Freeman and Co, San Francisco, pp 965
Cavalli-Sforza LL, Zonta LA, Nuzzo F, Bernini L, De Jong WW, Khan PM, Ray AK, Went LN, Siniscalco M, Nijenhuis LE, Van Loghem E, Modiano G (1969) Studies on African Pygmies. I. A pilot investigation of Babinga Pygmies in the Central African Republic (with an analysis of genetic diseases). Am J Hum Genet 21:252–274
Coale AJ (1974) The history of the human population. Scientific American 231(3):40–51
Denaro M, Blanc H, Johnson MJ, Chen KH, Wilmsen E, Cavalli-Sforza LL, Wallace DC (1981) Ethnic variation in Hpal endonuclease cleavage patterns of human mitochondrial DNA. Proc Natl Acad Sci USA 78:5768–5772
Farris JS (1972) Estimating phylogenetic trees from distance matrices. Am Naturalist 106:645–668
Ferris SD, Brown WM, Davidson WS, Wilson AC (1981a) Extensive polymorphism in the mitochondria DNA of apes. Proc Natl Acad Sci USA 78:6319–6323
Ferris SD, Wilson AC, Brown WM (1981b) Evolutionary tree for apes and humans based on cleavage maps of mitochondrial DNA. Proc Natl Acad Sci USA 78:2432–2436
Giles RE, Blanc H, Cann HM, Wallace DC (1980a) Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 77:6715–6719
Giles RE, Stroyonowski I, Wallace DC (1980b) Characterization of mitochondrial DNA in chloramphenicol-resistant inter-specific hybrids and a cybrid. Som Cell Genet 6:543–554
Groot GSP, Kroon AM (1979) Mitochondrial DNA from various organisms does not contain internally methylated cytosine in-CCGG- sequences. Biochim Biophys Acta 564:355–357
Hiernaux J (1975)The People of Africa, Charles Scribner's Sons, NY p 215
Kan YW, Dozy AM, Trecartin R, Todd D (1970) Identification of a nondeletion defect in α-thalassemia. N Engl J Med 297:1080–1084
Kimura M (1968) Evolutionary rate at the molecular level. Nature 217:624–626
Layrisse Z (1980) The HLA system in the Warao, InDemographic and Biological Studies of the Warao Indians. Wilbert J, Layrisse M (eds) UCLA Latin American Center Publications, Univ Calif, Los Angeles
Layrisse Z, Layrisse M, Heinen HD, Wilbert J (1976) The histocompatibility system in the Warao Indians of Venezuela. Science 194:1135–1138
Mourant AE, Kopec AC, Domaniewska-Sobczak K (eds) (1978)Blood Groups and Diseases, Oxford Univ Press, Oxford
Nei M (1982) Evolution of human races at the gene level. Human Genetics, Part A: The Unfolding Genome, Alan R. Liss, Inc, New York, pp 167–181
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
Nei M, Roychoudhury AK (1974) Genetic variation within and between the three major races of man, Caucasoids, Negroids, and Mongoloids. Am J Hum Genet 26:421–443
Nei M, Tajima F (1981) DNA polymorphism detectable by restriction endonucleases. Genetics 97:145–163
Nurse GT, Jenkins T (1977) Health and the Hunter-Gatherer. S Karger, Basel, p 259
Rigby PWJ, Dieckmann M, Rhodes C, Berg P (1977) Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol 113: 237–251
Sarich VM, Cronin J (1976) Molecular systematics of the primates. InMolecular Anthropology, Goodman M, Tashian RE (eds), pp 141–170
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Wallace DC (1981) Assignment of the chloramphenicol resistance gene to mitochondrial deoxyribonucleic acid and analysis of its expression in cultured human cells. Mol Cell Biol 1:697–710
Wallace DC, Surti U, Adams CW, Szulman AE (1982) Complete moles have paternal chromosomes but maternal mitochondrial DNA. Am J Hurn Genet 61:145–147
Watterson GA (1978) The homozygosity test of neutrality. Genetics 88:405–417
Watterson GA, Guess HA (1977) Is the most frequent allele the oldest? Theoretical Population Biology 11:141–160
Wiibert J, Layrisse M (eds) (1980) Demographic and biological studies of the Warao Indians. UCLA Latin American Center Publications, Univ of Calif, Los Angeles, p 252
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Johnson, M.J., Wallace, D.C., Ferris, S.D. et al. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol 19, 255–271 (1983). https://doi.org/10.1007/BF02099973
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02099973