Abstract
Sequencing of a 360-nucleotide segment of the mitochondrial control region for 63 individuals from an Amerindian tribe, the Nuu-Chah-Nulth of the Pacific Northwest, revealed the existence of 28 lineages defined by 26 variable positions. This represents a substantial level of mitochondrial diversity for a small local population. Furthermore, the sequence diversity among these Nuu-Chah-Nulth lineages is greater than 60% of the mitochondrial sequence diversity observed in major ethnic groups such as Japanese or sub-Saharan Africans. It was also observed that the majority of the mitochondrial lineages of the Nuu-Chah-Nulth fell into phylogenetic clusters. The magnitude of the sequence difference between the lineage clusters suggests that their origin predates the entry of humans into the Americas. Since a single Amerindian tribe can contain such extensive molecular diversity, it is unnecessary to presume that substantial genetic bottlenecks occurred during the formation of contemporary ethnic groups. In particular, these data do not support the concept of a dramatic founder effect during the peopling of the Americas.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. doi: 10.1038/290457a0. [DOI] [PubMed] [Google Scholar]
- Avise J. C., Neigel J. E., Arnold J. Demographic influences on mitochondrial DNA lineage survivorship in animal populations. J Mol Evol. 1984;20(2):99–105. doi: 10.1007/BF02257369. [DOI] [PubMed] [Google Scholar]
- Birky C. W., Jr, Maruyama T., Fuerst P. An approach to population and evolutionary genetic theory for genes in mitochondria and chloroplasts, and some results. Genetics. 1983 Mar;103(3):513–527. doi: 10.1093/genetics/103.3.513. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bowcock A. M., Kidd J. R., Mountain J. L., Hebert J. M., Carotenuto L., Kidd K. K., Cavalli-Sforza L. L. Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc Natl Acad Sci U S A. 1991 Feb 1;88(3):839–843. doi: 10.1073/pnas.88.3.839. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cann R. L., Stoneking M., Wilson A. C. Mitochondrial DNA and human evolution. Nature. 1987 Jan 1;325(6099):31–36. doi: 10.1038/325031a0. [DOI] [PubMed] [Google Scholar]
- Ewens W. J. The sampling theory of selectively neutral alleles. Theor Popul Biol. 1972 Mar;3(1):87–112. doi: 10.1016/0040-5809(72)90035-4. [DOI] [PubMed] [Google Scholar]
- Foran D. R., Hixson J. E., Brown W. M. Comparisons of ape and human sequences that regulate mitochondrial DNA transcription and D-loop DNA synthesis. Nucleic Acids Res. 1988 Jul 11;16(13):5841–5861. doi: 10.1093/nar/16.13.5841. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gingerich P. D. Temporal scaling of molecular evolution in primates and other mammals. Mol Biol Evol. 1986 May;3(3):205–221. doi: 10.1093/oxfordjournals.molbev.a040391. [DOI] [PubMed] [Google Scholar]
- Greenberg B. D., Newbold J. E., Sugino A. Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene. 1983 Jan-Feb;21(1-2):33–49. doi: 10.1016/0378-1119(83)90145-2. [DOI] [PubMed] [Google Scholar]
- Gyllensten U. B., Erlich H. A. Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci U S A. 1988 Oct;85(20):7652–7656. doi: 10.1073/pnas.85.20.7652. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Horai S., Hayasaka K. Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet. 1990 Apr;46(4):828–842. [PMC free article] [PubMed] [Google Scholar]
- Jones J. S., Rouhani S. Human evolution. How small was the bottleneck? Nature. 1986 Feb 6;319(6053):449–450. doi: 10.1038/319449b0. [DOI] [PubMed] [Google Scholar]
- Meyer A., Kocher T. D., Basasibwaki P., Wilson A. C. Monophyletic origin of Lake Victoria cichlid fishes suggested by mitochondrial DNA sequences. Nature. 1990 Oct 11;347(6293):550–553. doi: 10.1038/347550a0. [DOI] [PubMed] [Google Scholar]
- Morell V. Confusion in earliest america. Science. 1990 Apr 27;248(4954):439–441. doi: 10.1126/science.248.4954.439. [DOI] [PubMed] [Google Scholar]
- Neel J. V., Ward R. H. Village and tribal genetic distances among American Indians, and the possible implications for human evolution. Proc Natl Acad Sci U S A. 1970 Feb;65(2):323–330. doi: 10.1073/pnas.65.2.323. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Päbo S., Gifford J. A., Wilson A. C. Mitochondrial DNA sequences from a 7000-year old brain. Nucleic Acids Res. 1988 Oct 25;16(20):9775–9787. doi: 10.1093/nar/16.20.9775. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Schurr T. G., Ballinger S. W., Gan Y. Y., Hodge J. A., Merriwether D. A., Lawrence D. N., Knowler W. C., Weiss K. M., Wallace D. C. Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. Am J Hum Genet. 1990 Mar;46(3):613–623. [PMC free article] [PubMed] [Google Scholar]
- Stoneking M., Jorde L. B., Bhatia K., Wilson A. C. Geographic variation in human mitochondrial DNA from Papua New Guinea. Genetics. 1990 Mar;124(3):717–733. doi: 10.1093/genetics/124.3.717. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Stringer C. B., Andrews P. Genetic and fossil evidence for the origin of modern humans. Science. 1988 Mar 11;239(4845):1263–1268. doi: 10.1126/science.3125610. [DOI] [PubMed] [Google Scholar]
- Thomas W. K., Päbo S., Villablanca F. X., Wilson A. C. Spatial and temporal continuity of kangaroo rat populations shown by sequencing mitochondrial DNA from museum specimens. J Mol Evol. 1990 Aug;31(2):101–112. doi: 10.1007/BF02109479. [DOI] [PubMed] [Google Scholar]
- Vigilant L., Pennington R., Harpending H., Kocher T. D., Wilson A. C. Mitochondrial DNA sequences in single hairs from a southern African population. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9350–9354. doi: 10.1073/pnas.86.23.9350. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wainscoat J. S., Hill A. V., Boyce A. L., Flint J., Hernandez M., Thein S. L., Old J. M., Lynch J. R., Falusi A. G., Weatherall D. J. Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature. 1986 Feb 6;319(6053):491–493. doi: 10.1038/319491a0. [DOI] [PubMed] [Google Scholar]
- Wallace D. C., Garrison K., Knowler W. C. Dramatic founder effects in Amerindian mitochondrial DNAs. Am J Phys Anthropol. 1985 Oct;68(2):149–155. doi: 10.1002/ajpa.1330680202. [DOI] [PubMed] [Google Scholar]
- Wrischnik L. A., Higuchi R. G., Stoneking M., Erlich H. A., Arnheim N., Wilson A. C. Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Res. 1987 Jan 26;15(2):529–542. doi: 10.1093/nar/15.2.529. [DOI] [PMC free article] [PubMed] [Google Scholar]