Abstract
We introduce a new genetic distance for microsatellite loci, incorporating features of the stepwise mutation model, and test its performance on microsatellite polymorphisms in humans, chimpanzees, and gorillas. We find that it performs well in determining the relations among the primates, but less well than other distance measures (not based on the stepwise mutation model) in determining the relations among closely related human populations. However, the deepest split in the human phylogeny seems to be accurately reconstructed by the new distance and separates African and non-African populations. The new distance is independent of population size and therefore allows direct estimation of divergence times if the mutation rate is known. Based on 30 microsatellite polymorphisms and a recently reported average mutation rate of 5.6 x 10(-4) at 15 dinucleotide microsatellites, we estimate that the deepest split in the human phylogeny occurred about 156,000 years ago. Unlike most previous estimates, ours requires no external calibration of the rate of molecular evolution. We can use such calibrations, however, to test our estimate.
MeSH Terms
Animals
Archaeology
DNA, Satellite/genetics
Gorilla gorilla/genetics
Hominidae/genetics
Humans
Models, Genetic
Mutation
Pan troglodytes/genetics
Polymorphism, Genetic
Sequence Homology, Nucleic Acid
Time
Y Chromosome
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Goldstein D B
Department of Biological Sciences, Stanford University, CA 94305, USA.
Ruiz Linares A
Cavalli-Sforza L L
Feldman M W
References (29)
29 references, click to expand
-
Evolutionary change of restriction cleavage sites and phylogenetic inference for man and apes.
Mol Biol Evol. 1985 May;2(3):189-205
PMID: 2835574
-
African populations and the evolution of human mitochondrial DNA.
Science. 1991 Sep 27;253(5027):1503-7
PMID: 1840702
-
A molecular time scale for human evolution.
Proc Natl Acad Sci U S A. 1969 Aug;63(4):1088-93
PMID: 4982244
-
Identity of genes by descent within and between populations under mutation and migration pressures.
Theor Popul Biol. 1972 Dec;3(4):460-5
PMID: 4667099
-
A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population.
Genet Res. 1973 Oct;22(2):201-4
PMID: 4777279
-
Genic variation within and between the three major races of man, Caucasoids, Negroids, and Mongoloids.
Am J Hum Genet. 1974 Jul;26(4):421-43
PMID: 4841634
-
Drift variances of heterozygosity and genetic distance in transient states.
Genet Res. 1975 Jun;25(3):229-48
PMID: 1183809
-
Wandering distributions and the electrophoretic profile.
Theor Popul Biol. 1975 Dec;8(3):318-30
PMID: 1220043
-
Persistence of tandem arrays: implications for satellite and simple-sequence DNAs.
Genetics. 1987 Mar;115(3):553-67
PMID: 3569882
-
Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA.
Nature. 1988 Mar 17;332(6161):278-81
PMID: 3347271
-
Slippage synthesis of simple sequence DNA.
Nucleic Acids Res. 1992 Jan 25;20(2):211-5
PMID: 1741246
-
Estimation of heterozygosity for single-probe multilocus DNA fingerprints.
Mol Biol Evol. 1992 Jul;9(4):729-43
PMID: 1630309
-
A second-generation linkage map of the human genome.
Nature. 1992 Oct 29;359(6398):794-801
PMID: 1436057
-
A microsatellite genetic linkage map of human chromosome 18.
Genomics. 1993 Jan;15(1):48-56
PMID: 8094374
-
Allele frequencies at microsatellite loci: the stepwise mutation model revisited.
Genetics. 1993 Mar;133(3):737-49
PMID: 8454213
-
Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees.
Mol Biol Evol. 1993 May;10(3):512-26
PMID: 8336541
-
VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach.
Genetics. 1993 Jul;134(3):983-93
PMID: 8349120
-
Nucleotide repeats. Slippery DNA and diseases.
Nature. 1993 Sep 16;365(6443):207-8
PMID: 8371775
-
Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair.
Nature. 1993 Sep 16;365(6443):274-6
PMID: 8371783
-
Mutation of human short tandem repeats.
Hum Mol Genet. 1993 Aug;2(8):1123-8
PMID: 8401493
-
High resolution of human evolutionary trees with polymorphic microsatellites.
Nature. 1994 Mar 31;368(6470):455-7
PMID: 7510853
-
Mutational processes of simple-sequence repeat loci in human populations.
Proc Natl Acad Sci U S A. 1994 Apr 12;91(8):3166-70
PMID: 8159720
-
Estimation of evolutionary distance for reconstructing molecular phylogenetic trees.
Mol Biol Evol. 1994 Mar;11(2):278-86
PMID: 8170368
-
Microsatellite DNA variation within and among European cattle breeds.
Proc Biol Sci. 1994 Apr 22;256(1345):25-31
PMID: 8008754
-
Least squares estimation of molecular distance--noise abatement in phylogenetic reconstruction.
Theor Popul Biol. 1994 Jun;45(3):219-26
PMID: 8066551
-
Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):532-6
PMID: 7530363
-
Out of Africa--at last?
Science. 1995 Mar 3;267(5202):1272-3
PMID: 7871421
-
A measure of population subdivision based on microsatellite allele frequencies.
Genetics. 1995 Jan;139(1):457-62
PMID: 7705646
-
An evaluation of genetic distances for use with microsatellite loci.
Genetics. 1995 Jan;139(1):463-71
PMID: 7705647