Branching Pattern in the Evolutionary Tree for Human Mitochondrial DNA

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1991 Mar 1

PMID 2000368

Citations 96

Authors

A Di Rienzo

A C Wilson

Affiliations

Soon will be listed here.

Abstract

Eighty-eight types of mitochondrial (mt) DNA were found by sequencing the most variable part of the control region from 117 Caucasians. In the tree relating those types, most of the branching events occur about two-thirds of the way from the root of the tree to the tips of the branches. Moreover, the distribution of sequence differences between all possible pairs of individuals is approximately Poisson. Other non-African populations show a similar pattern. Assuming a neutral model, these findings imply that the probability of survival of new lineages has undergone dramatic changes, probably due to population expansion. Conversely, African populations show multimodal distributions fitting with a model of constant population size.

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References

Anderson S, Bankier A, Barrell B, de Bruijn M, Coulson A, Drouin J . Sequence and organization of the human mitochondrial genome. Nature. 1981; 290(5806):457-65. DOI: 10.1038/290457a0. View

Piazza A, van Loghem E, De Lange G, Curtoni E, Ulizzi L, Terrenato L . Immunoglobulin allotypes in Sardinia. Am J Hum Genet. 1976; 28(1):77-86. PMC: 1684902. View

Greenberg B, Newbold J, Sugino A . Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene. 1983; 21(1-2):33-49. DOI: 10.1016/0378-1119(83)90145-2. View

Zei G, Guglielmino Matessi R, Siri E, Moroni A, CAVALLI-SFORZA L . Surnames in Sardinia. I. Fit of frequency distributions for neutral alleles and genetic population structure. Ann Hum Genet. 1983; 47(4):329-52. DOI: 10.1111/j.1469-1809.1983.tb01003.x. View

Wijsman E, Zei G, Moroni A, Cavalli-Sforza L . Surnames in Sardinia. II. Computation of migration matrices from surname distributions in different periods. Ann Hum Genet. 1984; 48(1):65-78. DOI: 10.1111/j.1469-1809.1984.tb00836.x. View

Avise J, Neigel J, Arnold J . Demographic influences on mitochondrial DNA lineage survivorship in animal populations. J Mol Evol. 1984; 20(2):99-105. DOI: 10.1007/BF02257369. View

Cann R, Stoneking M, Wilson A . Mitochondrial DNA and human evolution. Nature. 1987; 325(6099):31-6. DOI: 10.1038/325031a0. View

Whittam T, Clark A, Stoneking M, Cann R, Wilson A . Allelic variation in human mitochondrial genes based on patterns of restriction site polymorphism. Proc Natl Acad Sci U S A. 1986; 83(24):9611-5. PMC: 387190. DOI: 10.1073/pnas.83.24.9611. View

Brega A, Scozzari R, Maccioni L, Iodice C, Wallace D, Bianco I . Mitochondrial DNA polymorphisms in Italy. I. Population data from Sardinia and Rome. Ann Hum Genet. 1986; 50(4):327-38. DOI: 10.1111/j.1469-1809.1986.tb01754.x. View

10.

Saitou N, Nei M . The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol. 1987; 4(4):406-25. DOI: 10.1093/oxfordjournals.molbev.a040454. View

11.

Foran D, Hixson J, Brown W . Comparisons of ape and human sequences that regulate mitochondrial DNA transcription and D-loop DNA synthesis. Nucleic Acids Res. 1988; 16(13):5841-61. PMC: 336833. DOI: 10.1093/nar/16.13.5841. View

12.

Avise J, Ball R, Arnold J . Current versus historical population sizes in vertebrate species with high gene flow: a comparison based on mitochondrial DNA lineages and inbreeding theory for neutral mutations. Mol Biol Evol. 1988; 5(4):331-44. DOI: 10.1093/oxfordjournals.molbev.a040504. View

13.

Gyllensten U, Erlich H . 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; 85(20):7652-6. PMC: 282250. DOI: 10.1073/pnas.85.20.7652. View

14.

Santachiara Benerecetti A, Scozzari R, Semino O, Torroni A, Brega A, Wallace D . Mitochondrial DNA polymorphisms in Italy. II. Molecular analysis of new and rare morphs from Sardinia and Rome. Ann Hum Genet. 1988; 52(1):39-56. DOI: 10.1111/j.1469-1809.1988.tb01076.x. View

15.

Thomas R, Schaffner W, Wilson A, Paabo S . DNA phylogeny of the extinct marsupial wolf. Nature. 1989; 340(6233):465-7. DOI: 10.1038/340465a0. View

16.

SARTORIS S, Varetto O, Migone N, Cappello N, Piazza A, Ferrara G . Mitochondrial DNA polymorphism in four Sardinian villages. Ann Hum Genet. 1988; 52(4):327-40. DOI: 10.1111/j.1469-1809.1988.tb01112.x. View

17.

Vigilant L, Pennington R, Harpending H, Kocher T, Wilson A . Mitochondrial DNA sequences in single hairs from a southern African population. Proc Natl Acad Sci U S A. 1989; 86(23):9350-4. PMC: 298493. DOI: 10.1073/pnas.86.23.9350. View

18.

Tajima F . Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics. 1989; 123(3):585-95. PMC: 1203831. DOI: 10.1093/genetics/123.3.585. View

19.

Horai S, Hayasaka K . Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet. 1990; 46(4):828-42. PMC: 1683656. View

20.

DEEVEY Jr E . The human population. Sci Am. 1960; 203:195-204. View