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1.
Mitochondrial DNA data have been used extensively to study evolution and early human origins. These applications require estimates of the rate at which nucleotide substitutions occur in the DNA sequence. We consider the problem of estimating substitution rates in the presence of site-to-site rate variation. A coalescent model is presented that allows for different substitution rates for purines and pyrimidines, as well as more detailed models that allow fast and slow rates within each of the purine and pyrimidine classes. A method for estimating such rates is presented. Even for these simple models of site heterogeneity, there are, typically, insufficient data to obtain reliable estimates of site-specific substitution rates. However, estimates of the average rate across all sites appear to be relatively stable even in the presence of site heterogeneity. Simulations of models with site-to-site variation in mutation rate show that hypervariable sites can produce peaks in the pairwise difference curves that have previously been attributed to population dynamics. 相似文献
2.
The evolutionary patterns of hepatitis C virus (HCV), including the best-fitting nucleotide substitution model and the molecular
clock hypothesis, were investigated by analyzing full-genome sequences available in the HCV database. The likelihood ratio
test allowed us to discriminate among different evolutionary hypotheses. The phylogeny of the six major HCV types was accurately
inferred, and the final tree was rooted by reconstructing the hypothetical HCV common ancestor with the maximum likelihood
method. The presence of phylogenetic noise and the relative nucleotide substitution rates in the different HCV genes were
also examined. These results offer a general guideline for the future of HCV phylogenetic analysis and also provide important
insights on HCV origin and evolution.
Received: 13 January 2001 / Accepted: 21 June 2001 相似文献
3.
Graziano Pesole Luigi R. Ceci Carmela Gissi Cecilia Saccone Carla Quagliariello 《Journal of molecular evolution》1996,43(5):447-452
We have analyzed the nad3-rps12 locus for eight angiosperms in order to compare the utility of mitochondrial DNA and edited mRNA sequences in phylogenetic
reconstruction. The two coding regions, containing from 25 to 35 editing sites in the various plants, have been concatenated
in order to increase the significance of the analysis. Differing from the corresponding chloroplast sequences, unedited mitochondrial
DNA sequences seem to evolve under a quasi-neutral substitution process which undifferentiates the nucleotide substitution
rates for the three codon positions. By using complete gene sequences (all codon positions) we found that genomic sequences
provide a classical angiosperm phylogenetic tree with a clear-cut grouping of monocotyledons and dicotyledons with Magnoliidae
at the basal branch of the tree. Conversely, owing to their low nucleotide substitution rates, edited mRNA sequences were
found not to be suitable for studying phylogenetic relationships among angiosperms.
Received: 24 January 1996 / Accepted: 5 June 1996 相似文献
4.
Phylogeny and Rates of Molecular Evolution of Planktonic Foraminifera: SSU rDNA Sequences Compared to the Fossil Record 总被引:5,自引:0,他引:5
Colomban de Vargas Louisette Zaninetti Heinz Hilbrecht Jan Pawlowski 《Journal of molecular evolution》1997,45(3):285-294
Planktonic foraminifera are marine protists, whose calcareous shells form oceanic sediments and are widely used for stratigraphic
and paleoenvironmental analyses. The fossil record of planktonic foraminifera is compared here to their molecular phylogeny
inferred from ribosomal DNA sequences. Eighteen partial SSU rDNA sequences from species representing all modern planktonic
families (Globigerinidae, Hastigerinidae, Globorotaliidae, Candeinidae) were obtained and compared to seven sequences representing
the major groups of benthic foraminifera. The phylogenetic analyses indicate a polyphyletic origin for the planktonic foraminifera.
The Candeinidae, the Globorotaliidae, and the clade Globigerinidae + Hastigerinidae seem to have originated independently,
at different epochs in the evolution of foraminifera. Inference of their relationships, however, is limited by substitution
rates of heterogeneity. Rates of SSU rDNA evolution vary from 4.0 × 10−9 substitutions/site/year in the Globigerinidae to less than 1.0 × 10−9 substitutions/site/year in the Globorotaliidae. These variations may be related to different levels of adaptation to the
planktonic mode of life. A clock-like evolution is observed among the Globigerinidae, for which molecular and paleontological
data are congruent. Phylogeny of the Globorotaliidae is clearly biased by rapid rates of substitution in two species (G. truncatulinoides and G. menardii). Our study reveals differences in absolute rates of evolution at all taxonomic levels in planktonic foraminifera and demonstrates
their effect on phylogenetic reconstructions.
Received: 21 January 1997 / Accepted: 17 April 1997 相似文献
5.
McClellan DA 《Journal of molecular evolution》2000,51(2):131-140
Mitochondrial genetic codons can be categorized by four patterns of nucleotide-site degeneracy based on varying combinations
of twofold- or nondegenerate sites at first codon positions and twofold- or fourfold-degenerate sites at third codon positions.
Herein, a model of molecular evolution is introduced that uses these patterns to calculate expected substitution frequencies
for each codon position and substitution type relative to overall number of synonymous or nonsynonymous substitutions. Regions
of the pocket gopher cytochrome oxidase subunit I (COI) and cytochrome b (cyt-b) genes are analyzed using this model. Chi-square distributions are used to produce relative goodness-of-fit (GF) scores for
measuring the difference between substitution frequencies predicted by the codon-degeneracy model (CDM), and frequencies inferred
using a well-supported phylogenetic tree of closely related species. The GF scores for expected and observed synonymous (GFsyn= 0.429, p= 0.807) and nonsynonymous (GFns= 2.309, p= 0.679) substitution frequencies resulted in a failure to reject the CDM as a null hypothesis for the molecular evolution
of COI and cyt-b in pocket gophers. Alternative tree topologies and calculations of transition bias for these data result in higher GF scores.
Received: 25 March 1999 / Accepted: 17 September 1999 相似文献
6.
Synonymous substitution rates in mitochondrial and nuclear genes of Drosophila were compared. To make accurate comparisons, we considered the following: (1) relative synonymous rates, which do not require
divergence time estimates, should be used; (2) methods estimating divergence should take into account base composition; (3)
only very closely related species should be used to avoid effects of saturation; (4) the heterogeneity of rates should be
examined. We modified the methods estimating synonymous substitution numbers to account for base composition bias. By using
these methods, we found that mitochondrial genes have 1.7–3.4 times higher synonymous substitution rates than the fastest
nuclear genes or 4.5–9.0 times higher rates than the average nuclear genes. The average rate of synonymous transversions was
2.7 (estimated from the melanogaster species subgroup) or 2.9 (estimated from the obscura group) times higher in mitochondrial genes than in nuclear genes. Synonymous transversions in mitochondrial genes occurred
at an approximately equivalent rate to those in the fastest nuclear genes. This last result is not consistent with the hypothesis
that the difference in turnover rates between mitochondrial and nuclear genomes is the major factor determining higher synonymous
substitution rates in mtDNA. We conclude that the difference in synonymous substitution rates is due to a combination of two
factors: a higher transitional mutation rate in mtDNA and constraints on nuclear genes due to selection for codon usage.
Received: 27 November 1996 / Accepted: 8 May 1997 相似文献
7.
McClellan DA 《Journal of molecular evolution》2000,51(3):185-193
The codon-degeneracy model (CDM) predicts relative frequencies of substitution for any set of homologous protein-coding DNA
sequences based on patterns of nucleotide degeneracy, codon composition, and the assumption of selective neutrality. However,
at present, the CDM is reliant on outside estimates of transition bias. A new method by which the power of the CDM can be
used to find a synonymous transition bias that is optimal for any given phylogenetic tree topology is presented. An example
is illustrated that utilizes optimized transition biases to generate CDM GF-scores for every possible phylogenetic tree for
pocket gophers of the genus Orthogeomys. The resulting distribution of CDM GF-scores is compared and contrasted with the results of maximum parsimony and maximum
likelihood methods. Although convergence on a single tree topology by the CDM and another method indicates greater support
for that particular tree, the value of CDM GF-score as the sole optimality criterion for phylogeny reconstruction remains
to be determined. It is clear, however, that the a priori estimation of an optimum transition bias from codon composition
has a direct application to differentiating between alternative trees.
Received: 13 October 1999 / Accepted: 28 April 2000 相似文献
8.
Wei Wu Morris Goodman Margaret I. Lomax Lawrence I. Grossman 《Journal of molecular evolution》1997,44(5):477-491
Cytochrome c oxidase (COX) is a multi-subunit enzyme complex that catalyzes the final step of electron transfer through the respiratory
chain on the mitochondrial inner membrane. Up to 13 subunits encoded by both the mitochondrial (subunits I, II, and III) and
nuclear genomes occur in eukaryotic organisms ranging from yeast to human. Previously, we observed a high number of amino
acid replacements in the human COX IV subunit compared to mouse, rat, and cow orthologues. Here we examined COX IV evolution
in the two groups of anthropoid primates, the catarrhines (hominoids, cercopithecoids) and platyrrhines (ceboids), as well
as one prosimian primate (lorisiform), by sequencing PCR-amplified portions of functional COX4 genes from genomic DNAs. Phylogenetic analysis of the COX4 sequence data revealed that accelerated nonsynonymous substitution rates were evident in the early evolution of both catarrhines
and, to a lesser extent, platyrrhines. These accelerated rates were followed later by decelerated rates, suggesting that positive
selection for adaptive amino acid replacement became purifying selection, preserving replacements that had occurred. The evidence
for positive selection was especially pronounced along the catarrhine lineage to hominoids in which the nonsynonymous rate
was first faster than the synonymous rate, then later much slower. The rates of three types of ``neutral DNA' nucleotide
substitutions (synonymous substitutions, pseudogene nucleotide substitutions, and intron nucleotide substitutions) are similar
and are consistent with previous observations of a slower rate of such substitutions in the nuclear genomes of hominoids than
in the nuclear genomes of other primate and mammalian lineages.
Received: 22 May 1996 / Accepted: 24 November 1996 相似文献
9.
Recent Evolutionary History of Human Immunodeficiency Virus Type 1 Subtype B: Reconstruction of Epidemic Onset Based on Sequence Distances to the Common Ancestor 总被引:13,自引:0,他引:13
We obtained and studied HIV-1 sequences with a known sampling year from three outbreaks of the HIV-1 epidemic: 141 env V3
(270 nt) sampled between 1984 and 1992 and 117 pol prot/RT (804 nt) sequences sampled between 1986 and 1999 from Dutch homosexual
men and injecting drug users (IDUs), as well as 77 env V3 sequences sampled between 1983 and 1994 in the United States. Since
retrospective serological and/or epidemiological data on these populations are available, providing estimates of the dates
of the onset of the HIV-1 epidemics, we had the opportunity to test different phylogenetic models for their accuracy in deriving
the recent evolutionary history of HIV-1 subtype B and the onset date of the HIV-1 epidemic. We observed that, in any given
year, individual sequences vary widely in their distances to the common ancestor, and sequences close to the ancestors were
found decades after the onset of the epidemic. Nevertheless, the mean evolutionary distances of virus strains to ancestors
were increasing significantly during the course of the studied epidemics, which indicates that the molecular clock is operational
in the recent evolution of HIV-1. When the relationship between the sampling years of sequences and their nucleotide distances
to the common ancestor was extrapolated to the past, analysis of pol sequences provided accurate estimates of the onset years
of the epidemics, whereas analysis of V3 sequences by the maximum-likelihood or neighbor-joining methods led to an overestimation
of the age of the epidemics. Separate analysis of nonsynonymous and synonymous distances revealed that this overestimation
results from nonsynonymous substitutions, whose numbers were not increasing significantly in all three virus populations over
the observation period. In contrast, analysis of synonymous env V3 distances provided accurate estimates of the onset years
for the outbreaks we studied.
Received: 26 October 2001 / Accepted: 8 November 2001 相似文献
10.
The very high AT content of hymenopteran mtDNA has warranted speculation about nucleotide substitution processes in this
group. Here we investigate the pattern of honeybee, Apis mellifera, mtDNA nucleotide polymorphisms inferred from phylogeny in terms of differences between the ATPase6, COI, COII, COIII, cytochrome
b, and ND2 genes and strand asymmetry in mutation rates. The observed transition/transversion ratios and the distribution of
nonsynonymous substitutions between regions differed significantly. The pattern of differences between genes leading to these
heterogeneities (the ATPase6 and COIII genes group apart from the rest) differed markedly from that predicted on the basis
of long-term evolutionary change and may indicate differences between current and long-term dynamics of sequence evolution.
Also, there is strong strand asymmetry in substitutions, which probably results in a mutability of G and C sufficiently high
to account for the AT-richness of honeybee mtDNA.
Received: 21 October 1998 / Accepted: 27 January 1999 相似文献
11.
12.
Niji Ohta Naoki Sato Hisayoshi Nozaki Tsuneyoshi Kuroiwa 《Journal of molecular evolution》1997,45(6):688-695
The nucleotide sequence of a cluster of ribosomal protein genes in the plastid genome of a unicellular red alga, Cyanidioschyzon merolae, which has been supposed to be the most primitive alga, was determined. The phylogenetic tree inferred from the amino acid
sequence of ribosomal proteins of two rhodophytes, a chromophyte, a glaucophyte, two chlorophytes (land plants), a cyanobacterium,
and three eubacteria suggested a close relationship between the cyanobacterium Synechocystis PCC6803 and the plastids of various species in the kingdom Plantae, which is consistent with the hypothesis of the endosymbiotic
origin of plastids. In this tree, the two species of rhodophytes were grouped with the chromophyte, and the glaucophyte was
grouped with the chlorophytes. Analysis of the organization of the genes encoding the ribosomal proteins suggested that the
translocation of the str cluster occurred early in the lineage of rhodophytes and chromophytes after these groups had been separated from chlorophytes
and glaucophytes.
Received: 2 June 1997 / Accepted: 15 July 1997 相似文献
13.
To study the evolution of mtDNA and the intergeneric relationships of New World Jays (Aves: Corvidae), we sequenced the entire
mitochondrial DNA control region (CR) from 21 species representing all genera of New World jays, an Old World jay, crows,
and a magpie. Using maximum likelihood methods, we found that both the transition/transversion ratio (κ) and among site rate
variation (α) were higher in flanking domains I and II than in the conserved central domain and that the frequency of indels
was highest in domain II. Estimates of κ and α were much more influenced by the density of taxon sampling than by alternative
optimal tree topologies. We implemented a successive approximation method incorporating these parameters into phylogenetic
analysis. In addition we compared our study in detail to a previous study using cytochrome b and morphology to examine the effect of taxon sampling, evolutionary rates of genes, and combined data on tree resolution.
We found that the particular weighting scheme used had no effect on tree topology and little effect on tree robustness. Taxon
sampling had a significant effect on tree robustness but little effect on the topology of the best tree. The CR data set differed
nonsignificantly from the tree derived from the cytochrome b/morphological data set primarily in the placement of the genus Gymnorhinus, which is near the base of the CR tree. However, contrary to conventional taxonomy, the CR data set suggested that blue and
black jays (Cyanocorax sensu lato) might be paraphyletic and that the brown jay Psilorhinus (=Cyanocorax) morio is the sister group to magpie jays (Calocitta), a phylogenetic hypothesis that is likely as parsimonious with regard to nonmolecular characters as monophyly of Cyanocorax. The CR tree also suggests that the common ancestor of NWJs was likely a cooperative breeder. Consistent with recent systematic
theory, our data suggest that DNA sequences with high substitution rates such as the CR may nonetheless be useful in reconstructing
relatively deep phylogenetic nodes in avian groups.
Received: 10 November 1999 / Accepted: 16 March 2000 相似文献
14.
Short interspersed DNA elements (SINEs) amplify by retroposition either by (i) successive waves of amplification from one
or a few evolving master genes or by (ii) the generation of new master genes that coexist with their progenitors. Individual,
highly conserved, elements of the B1 SINE family were identified from the GenBank nucleotide database using various B1 subfamily
consensus query sequences to determine their integration times into the mouse genome. A comparison of orthologous loci in
various species of the genus Mus demonstrated that four subfamilies of B1 elements have been amplifying within the last 1–3 million years. Therefore, B1 sequences
are generated by coexisting source genes. Additionally, three B1 subfamilies have been concurrently propagated during subspecies
divergence and strain formation in Mus, indicating very recent activity of this retroposon family. The patterns of intra- and interspecies variations of orthologous
loci demonstrate the usefulness of B1 integrations as a phylogenetic tool. A single inconsistency in the phylogenetic trends
was depicted by the presence of a B1 insert in an orthologous locus exclusively in M. musculus and M. pahari. However, DNA sequence analysis revealed that these were independent integrations at the same genomic site. One highly conserved
B1 element that integrated at least 4–6 million years ago suggests the possibility of occasional function for B1 integrations.
Received: 25 February 2000 / Accepted: 5 June 2000 相似文献
15.
Aurora M. Nedelcu 《Journal of molecular evolution》2001,53(6):670-679
This study provides a phylogenetic/comparative approach to deciphering the processes underlying the evolution of plastid
rRNA genes in genomes under relaxed functional constraints. Nonphotosynthetic green algal taxa that belong to two distinct
classes, Chlorophyceae (Polytoma) and Trebouxiophyceae (Prototheca), were investigated. Similar to the situation described previously for plastid 16S rRNA genes in nonphotosynthetic land plants,
nucleotide substitution levels, extent of structural variations, and percentage AT values are increased in nonphotosynthetic
green algae compared to their closest photosynthetic relatives. However, the mutational processes appear to be different in
many respects. First, with the increase in AT content, more transversions are noted in Polytoma and holoparasite angiosperms, while more transitions characterize the evolution of the 16S rDNA sequences in Prototheca. Second, although structural variations do accumulate in both Polytoma and Prototheca (as well as holoparasitic plastid 16S rRNAs), insertions as large as 1.6 kb characterize the plastid 16S rRNA genes in the
former, whereas significantly smaller indels (not exceeding 24 bp) seem to be more prevalent in the latter group. The differences
in evolutionary rates and patterns within and between lineages might be due to mutations in replication/repair-related genes;
slipped-strand mispairing is likely the mechanism responsible for the expansion of insertions in Polytoma plastid 16S rRNA genes.
Received: 29 December 2000 / Accepted: 18 May 2001 相似文献
16.
We suggest a nucleotide substitution model that takes correlation between base-paired nucleotides into account. The model
includes the estimation of the transition–transversion ratio and allows inference of the shape parameter of a discrete gamma
distribution to include rate heterogeneity. A Cox-test statistic, applied to a diatom ribosomal RNA alignment, shows that
the suggested correlation model explains evolution of the stem region better than usual independence models. Moreover, the
Cox-test procedure is extended to shed some light upon the problem of assigning helical regions in a secondary structure based
alignment. This approach provides an estimate of the percentage of stem positions that do not appear to be correlated.
Received: 4 March 1999 / Accepted: 10 May 1999 相似文献
17.
Drosophila nuclear introns are commonly assumed to change according to a single rate of substitution, yet little is known about the
evolution of these non-coding sequences. The hypothesis of a uniform substitution rate for introns seems to be at odds with
recent findings that the nucleotide composition of introns varies at a scale unknown before, and that their base content variation
is correlated with that of the adjacent exons. However, no direct attempt at comparing substitution rates in introns seems
to have been addressed so far. We have studied the rate of nucleotide substitution over a region of the Xdh gene containing two adjacent short, constitutively spliced introns, in several species of Drosophila and related genera. The two introns differ significantly in base composition and substitution rate, with one intron evolving
at least twice as fast as the other. In addition, the substitution pattern of the introns is positively associated with that
of the surrounding coding regions, evidencing that the molecular evolution of these introns is impacted by the region in which
they are embedded. The observed differences cannot be attributed to selection acting differently at the level of the secondary
structure of the pre-mRNA. Rather, they are better accounted for by locally heterogeneous patterns of mutation.
Received: 26 July 1999 / Accepted: 21 August 1999 相似文献
18.
19.
Southern hybridization data suggest that the male sex-determining locus, Sry, is often duplicated in rodents. Here we explore DNA sequence evolution of orthologous and paralogous copies of Sry isolated from six species of African murines. PCR amplification followed by direct sequencing revealed from two to four copies
of Sry per species. All copies include a long open reading frame, with a stop codon that coincides closely with the stop codon of
the house mouse, Mus musculus, a species known to have a single copy of Sry. A phylogenetic analysis suggests that there are at least seven paralogous copies of Sry in this group of rodents. Putative orthologues are identical; sequence divergence among putative paralogues ranges from 1
to 8% (excluding the CAG repeat), with much lower levels of divergence in the high-mobility group (HMG-box) region than in
the C-terminal region. A high proportion of nucleotide substitutions in both regions result in amino-acid replacement. The
long open reading frame, conserved HMG-box, and pattern of evolution of the putative paralogues suggest that they are functional.
Received: 4 October 1996 / Accepted: 17 January 1997 相似文献
20.
The study of rates of nucleotide substitution in RNA viruses is central to our understanding of their evolution. Herein we
report a comprehensive analysis of substitution rates in 50 RNA viruses using a recently developed maximum likelihood phylogenetic
method. This analysis revealed a significant relationship between genetic divergence and isolation time for an extensive array
of RNA viruses, although more rate variation was usually present among lineages than would be expected under the constraints
of a molecular clock. Despite the lack of a molecular clock, the range of statistically significant variation in overall substitution
rates was surprisingly narrow for those viruses where a significant relationship between genetic divergence and time was found,
as was the case when synonymous sites were considered alone, where the molecular clock was rejected less frequently. An analysis
of the ecological and genetic factors that might explain this rate variation revealed some evidence of significantly lower
substitution rates in vector-borne viruses, as well as a weak correlation between rate and genome length. Finally, a simulation
study revealed that our maximum likelihood estimates of substitution rates are valid, even if the molecular clock is rejected,
provided that sufficiently large data sets are analyzed.
Received: 23 February 2001 / Accepted: 3 July 2001 相似文献