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1.
Tomoko Ohta 《Journal of molecular evolution》1998,46(6):633-638
The pattern of polymorphisms at major histocompatibility complex loci was studied by computer simulations and by DNA sequence
analysis. Two types of selection, overdominance plus short-term selection and maternal–fetal incompatibility, were simulated
for a gene family with intra- and interlocus gene conversion. Both types of selection were found to be consistent with the
observed patterns of polymorphisms. It was also found that the more interlocus conversion occurs, the higher the divergence
becomes at both nonsynonymous and synonymous sites. The ratio of nonsynonymous-to-synonymous divergence among alleles decreases
as the interlocus conversion rate increases. These results agree with the interpretation that the rate of interlocus conversion
is lower in human genes than in genes of other nonprimate mammals. This is because, in the latter, synonymous divergence at
the ARS (antigen recognition site) is often higher than that at the non-ARS, whereas in the former, this is not so. Also,
the ratio of nonsynonymous to synonymous substitutions at the ARS tends to be higher in human genes than in other mammalian
genes. The main difference between overdominance plus short-term selection and maternal–fetal interaction is that the number
of alleles and heterozygosity per locus are higher in the latter than in the former under the presumed selection intensities.
However, the average divergence among alleles tends to be lower in the latter than in the former under similar conditions.
Received: 30 September 1997 / Accepted: 15 December 1997 相似文献
2.
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
3.
Singhania NA Dyer KD Zhang J Deming MS Bonville CA Domachowske JB Rosenberg HF 《Journal of molecular evolution》1999,49(6):721-728
The two eosinophil ribonucleases, eosinophil-derived neurotoxin (EDN/RNase 2) and eosinophil cationic protein (ECP/RNase
3), are among the most rapidly evolving coding sequences known among primates. The eight mouse genes identified as orthologs
of EDN and ECP form a highly divergent, species-limited cluster. We present here the rat ribonuclease cluster, a group of
eight distinct ribonuclease A superfamily genes that are more closely related to one another than they are to their murine
counterparts. The existence of independent gene clusters suggests that numerous duplications and diversification events have
occurred at these loci recently, sometime after the divergence of these two rodent species (∼10–15 million years ago). Nonsynonymous
substitutions per site (d
N) calculated for the 64 mouse/rat gene pairs indicate that these ribonucleases are incorporating nonsilent mutations at accelerated
rates, and comparisons of nonsynonymous to synonymous substitution (d
N / d
S) suggest that diversity in the mouse ribonuclease cluster is promoted by positive (Darwinian) selection. Although the pressures
promoting similar but clearly independent styles of rapid diversification among these primate and rodent genes remain uncertain,
our recent findings regarding the function of human EDN suggest a role for these ribonucleases in antiviral host defense.
Received: 8 April 1999 / Accepted: 22 June 1999 相似文献
4.
Rates of Conservative and Radical Nonsynonymous Nucleotide Substitutions in Mammalian Nuclear Genes 总被引:28,自引:0,他引:28
Zhang J 《Journal of molecular evolution》2000,50(1):56-68
To understand the process and mechanism of protein evolution, it is important to know what types of amino acid substitutions
are more likely to be under selection and what types are mostly neutral. An amino acid substitution can be classified as either
conservative or radical, depending on whether it involves a change in a certain physicochemical property of the amino acid.
Assuming Kimura's two-parameter model of nucleotide substitution, I present a method for computing the numbers of conservative
and radical nonsynonymous (amino acid altering) nucleotide substitutions per site and estimate these rates for 47 nuclear
genes from mammals. The results are as follows. (1) The average radical/conservative rate ratio is 0.81 for charge changes,
0.85 for polarity changes, and 0.49 when both polarity and volume changes are considered. (2) The radical/conservative rate
ratio is positively correlated with the nonsynonymous/synonymous rate ratio for charge changes or when both polarity and volume
changes are considered. (3) Both the conservative/synonymous rate ratio and the radical/synonymous rate ratio are lower in
the rodent lineage than in the primate or artiodactyl lineage, suggesting more intense purifying selection in the rodent lineage,
for both conservative and radical nonsynonymous substitutions. (4) Neglecting transition/transversion bias would cause an
underestimation of both radical and conservative rates and the ratio thereof. (5) Transversions induce more dramatic genetic
alternations than transitions in that transversions produce more amino acid altering changes and among which, more radical
changes.
Received: 6 April 1999 / Accepted: 16 August 1999 相似文献
5.
6.
Maximum Likelihood Estimation on Large Phylogenies and Analysis of Adaptive Evolution in Human Influenza Virus A 总被引:1,自引:0,他引:1
Yang Z 《Journal of molecular evolution》2000,51(5):423-432
Algorithmic details to obtain maximum likelihood estimates of parameters on a large phylogeny are discussed. On a large tree,
an efficient approach is to optimize branch lengths one at a time while updating parameters in the substitution model simultaneously.
Codon substitution models that allow for variable nonsynonymous/synonymous rate ratios (ω=d
N/d
S) among sites are used to analyze a data set of human influenza virus type A hemagglutinin (HA) genes. The data set has 349
sequences. Methods for obtaining approximate estimates of branch lengths for codon models are explored, and the estimates
are used to test for positive selection and to identify sites under selection. Compared with results obtained from the exact
method estimating all parameters by maximum likelihood, the approximate methods produced reliable results. The analysis identified
a number of sites in the viral gene under diversifying Darwinian selection and demonstrated the importance of including many
sequences in the data in detecting positive selection at individual sites.
Received: 25 April 2000 / Accepted: 24 July 2000 相似文献
7.
In an effort to detect factors which may be under positive selection, a survey for such genes in two pathogenic strains of
Helicobacter pylori (J99 and 26695) was performed. Based on an analysis of synonymous and nonsynonymous substitutions, we identified 19 candidate
genes under positive selection. A search for homologues with known crystallographic structures revealed Escherichia coli carbomoyl phosphate synthetase as a homologue of H. pylori carbamoyl phosphate synthetase. Carbamoyl phosphate synthetase as isolated from E. coli is a heterodimeric enzyme that possesses two different but coupled functionalities and is involved in the first committed
step in the separate biosynthetic pathways for arginine and pyrimidine nucleotides. In this study, we provide evidence indicating
that one of these functionalities appears to be under selective pressure. Reports from previously published site-directed
mutagenesis studies point to a decoupling of amidotransferase and synthetase activities. Implications of these findings for
a metabolic enzyme under positive selection are discussed in terms of the mechanisms of H. pylori pathogenesis.
Received: 11 June 2001 / Accepted: 12 September 2001 相似文献
8.
Fernando Alvarez-Valin Kamel Jabbari Nicolas Carels Giorgio Bernardi 《Journal of molecular evolution》1999,49(3):330-342
In this work, we have investigated the relationships between synonymous and nonsynonymous rates and base composition in coding
sequences from Gramineae to analyze the factors underlying the variation in substitutional rates. We have shown that in these genes the rates of nucleotide
divergence, both synonymous and nonsynonymous, are, to some extent, dependent on each other and on the base composition. In
the first place, the variation in nonsynonymous rate is related to the GC level at the second codon position (the higher the
GC2 level, the higher the amino acid replacement rate). The correlation is especially strong with T2, the coefficients being significant in the three data sets analyzed. This correlation between nonsynonymous rate and base
composition at the second codon position is also detectable at the intragenic level, which implies that the factors that tend
to increase the intergenic variance in nonsynonymous rates also affect the intragenic variance. On the other hand, we have
shown that the synonymous rate is strongly correlated with the GC3 level. This correlation is observed both across genes and at the intragenic level. Similarly, the nonsynonymous rate is also
affected at the intragenic level by GC3 level, like the silent rate. In fact, synonymous and nonsynonymous rates exhibit a parallel behavior in relation to GC3 level, indicating that the intragenic patterns of both silent and amino acid divergence rates are influenced in a similar
way by the intragenic variation of GC3. This result, taken together with the fact that the number of genes displaying intragenic correlation coefficients between
synonymous and nonsynonymous rates is not very high, but higher than random expectation (in the three data sets analyzed),
strongly suggests that the processes of silent and amino acid replacement divergence are, at least in part, driven by common
evolutionary forces in genes from Gramineae.
Received: 2 July 1998 / Accepted: 18 April 1999 相似文献
9.
A fractal renewal point process (FRPP) is used to model molecular evolution in agreement with the relationship between the
variance and the mean numbers of nonsynonymous and synonymous substitutions in mammals. Like other episodic models such as
the doubly stochastic Poisson process, this model accounts for the large variances observed in amino acid substitution rates,
but unlike certain other episodic models, it also accounts for the increase in the index of dispersion with the mean number
of substitutions in Ohta's (1995) data. We find that this correlation is significant for nonsynonymous substitutions at the
1% level and for synonymous substitutions at the 10% level, even after removing lineage effects and when using Bulmer's (1989)
unbiased estimator of the index of dispersion. This model is simpler than most other overdispersed models of evolution in
the sense that it is fully specified by a single interevent probability distribution. Interpretations in terms of chaotic
dynamics and in terms of chance and selection are discussed.
Received: 12 January 1998 / Accepted: 19 May 1998 相似文献
10.
de Miranda AB Alvarez-Valin F Jabbari K Degrave WM Bernardi G 《Journal of molecular evolution》2000,50(1):45-55
Mycobacterium tuberculosis and Mycobacterium leprae are the ethiological agents of tuberculosis and leprosy, respectively. After performing extensive comparisons between genes
from these two GC-rich bacterial species, we were able to construct a set of 275 homologous genes. Since these two bacterial
species also have a very low growth rate, translational selection could not be so determinant in their codon preferences as
it is in other fast-growing bacteria. Indeed, principal-components analysis of codon usage from this set of homologous genes
revealed that the codon choices in M. tuberculosis and M. leprae are correlated not only with compositional constraints and translational selection, but also with the degree of amino acid
conservation and the hydrophobicity of the encoded proteins. Finally, significant correlations were found between GC3 and synonymous distances as well as between synonymous and nonsynonymous distances.
Received: 30 October 1998 / Accepted: 16 August 1999 相似文献
11.
Kazuhisa Tsunoyama Matthew I. Bellgard Takashi Gojobori 《Journal of molecular evolution》2001,53(4-5):456-464
It has been observed that synonymous substitution rates vary among genes in various organisms, although the cause of the
variation is unresolved. At the intragenic level, however, the variation of synonymous substitutions is somewhat controversial.
By developing a rigorous statistical test and applying the test to 418 homologous gene pairs between mouse and rat, we found
that more than 90% of gene pairs showed a statistical significance in intragenic variation of synonymous substitution rates.
Moreover, by examining all conceivable possibilities for the cause of the variation, we successfully found that intragenic
variation of synonymous substitutions in mammalian genes is caused mainly by a nonrandom mutation due to the methylation of
CpG dinucleotides rather than by functional constraints.
Received: 12 January 2001 / Accepted: 28 February 2001 相似文献
12.
A Survey of the Molecular Evolutionary Dynamics of Twenty-Five Multigene Families from Four Grass Taxa 总被引:10,自引:0,他引:10
We surveyed the molecular evolutionary characteristics of 25 plant gene families, with the goal of better understanding general
processes in plant gene family evolution. The survey was based on 247 GenBank sequences representing four grass species (maize,
rice, wheat, and barley). For each gene family, orthology and paralogy relationships were uncertain. Recognizing this uncertainty,
we characterized the molecular evolution of each gene family in four ways. First, we calculated the ratio of nonsynonymous
to synonymous substitutions (d
N/d
S) both on branches of gene phylogenies and across codons. Our results indicated that the d
N/d
S ratio was statistically heterogeneous across branches in 17 of 25 (68%) gene families. The vast majority of d
N/d
S estimates were <<1.0, suggestive of selective constraint on amino acid replacements, and no estimates were >1.0, either across
phylogenetic lineages or across codons. Second, we tested separately for nonsynonymous and synonymous molecular clocks. Sixty-eight
percent of gene families rejected a nonsynonymous molecular clock, and 52% of gene families rejected a synonymous molecular
clock. Thus, most gene families in this study deviated from clock-like evolution at either synonymous or nonsynonymous sites.
Third, we calculated the effective number of codons and the proportion of G+C synonymous sites for each sequence in each gene
family. One or both quantities vary significantly within 18 of 25 gene families. Finally, we tested for gene conversion, and
only six gene families provided evidence of gene conversion events. Altogether, evolution for these 25 gene families is marked
by selective constraint that varies among gene family members, a lack of molecular clock at both synonymous and nonsynonymous
sites, and substantial variation in codon usage.
Received: 25 May 2000 / Accepted: 16 October 2000 相似文献
13.
Positive Darwinian Selection Promotes Heterogeneity Among Members of the Antifreeze Protein Multigene Family 总被引:9,自引:0,他引:9
A variety of organisms have independently evolved proteins exhibiting antifreeze activity that allows survival at subfreezing
temperatures. The antifreeze proteins (AFPs) bind ice nuclei and depress the freezing point by a noncolligative absorption–inhibition
mechanism. Many organisms have a heterogeneous suite of AFPs with variation in primary sequence between paralogous loci. Here,
we demonstrate that the diversification of the AFP paralogues is promoted by positive Darwinian selection in two independently
evolved AFPs from fish and beetle. First, we demonstrate an elevated rate of nonsynonymous substitutions compared to synonymous
substitutions in the mature protein coding region. Second, we perform phylogeny-based tests of selection to demonstrate a
subset of codons is subjected to positive selection. When mapped onto the three-dimensional structure of the fish antifreeze
type III antifreeze structure, these codons correspond to amino acid positions that surround but do not interrupt the putative
ice-binding surface. The selective agent may be related to efficient binding to diverse ice surfaces or some other aspect
of AFP function.
Received: 27 February 2001 / Accepted: 12 September 2001 相似文献
14.
Weinreich DM 《Journal of molecular evolution》2001,52(1):40-50
A higher rate of molecular evolution in rodents than in primates at synonymous sites and, to a lesser extent, at amino acid
replacement sites has been reported previously for most nuclear genes examined. Thus in these genes the average ratio of amino
acid replacement to synonymous substitution rates in rodents is lower than in primates, an observation at odds with the neutral
model of molecular evolution. Under Ohta's mildly deleterious model of molecular evolution, these observations are seen as
the consequence of the combined effects of a shorter generation time (driving a higher mutation rate) and a larger effective
population size (resulting in more effective selection against mildly deleterious mutations) in rodents. The present study
reports the results of a maximum-likelihood analysis of the ratio of amino acid replacements to synonymous substitutions for
genes encoded in mitochondrial DNA (mtDNA) in these two lineages. A similar pattern is observed: in rodents this ratio is
significantly lower than in primates, again consistent only with the mildly deleterious model. Interestingly the lineage-specific
difference is much more pronounced in mtDNA-encoded than in nuclear-encoded proteins, an observation which is shown to run
counter to expectation under Ohta's model. Finally, accepting certain fossil divergence dates, the lineage-specific difference
in amino acid replacement-to-synonymous substitution ratio in mtDNA can be partitioned and is found to be entirely the consequence
of a higher mutation rate in rodents. This conclusion is consistent with a replication-dependent model of mutation in mtDNA.
Received: 24 September 1999 / Accepted: 18 September 2000 相似文献
15.
Fimbriae or pili are essential adherence factors usually found in pathogenic bacteria to aid colonization of host cells.
Three major structural pilin genes, fimA, sfaA, and papA, from Escherichia coli natural isolates were examined and nucleotide sequence data revealed elevated levels of both synonymous and nonsynonymous
site variation at these loci. Examination of synonymous site variation shows a fivefold increase in fimA sites, relative to the housekeeping gene mdh; and similarly the sfaA and papA genes have increased synonymous sites variation relative to fimA. Nonsynonymous site variation is also elevated at all three loci but, in particular, at the papA locus (k
N= 0.44). The k
N/k
S ratio for the three genes are among the highest yet reported for E. coli genes. Regional variation in nucleotide polymorphism within each of the genes reveal hypervariable segments where nonsynonymous
substitutions exceed synonymous substitutions. We propose that at the fimA, papA, and sfaA genes, diversifying selection has brought about the increase levels of polymorphism.
Received: 7 August 1997 / Accepted: 8 March 1998 相似文献
16.
Rates of synonymous and nonsynonymous nucleotide substitutions and codon usage bias (ENC) were estimated for a number of
nuclear and chloroplast genes in a sample of centric and pennate diatoms. The results suggest that DNA evolution has taken
place, on an average, at a slower rate in the chloroplast genes than in the nuclear genes: a rate variation pattern similar
to that observed in land plants. Synonymous substitution rates in the chloroplast genes show a negative association with the
degree of codon usage bias, suggesting that genes with a higher degree of codon usage bias have evolved at a slower rate.
While this relationship has been shown in both prokaryotes and multicellular eukaryotes, it has not been demonstrated before
in diatoms.
Received: 3 June 1998 / Accepted: 11 August 1998 相似文献
17.
We surveyed the molecular evolutionary characteristics of 11 nuclear genes from 10 conifer trees belonging to the Taxodioideae, the Cupressoideae, and the Sequoioideae. Comparisons of substitution rates among the lineages indicated that the synonymous substitution rates of the Cupressoideae lineage were higher than those of the Taxodioideae. This result parallels the pattern previously found in plastid genes. Likelihood-ratio tests showed that the nonsynonymous-synonymous rate ratio did not change significantly among lineages. In addition, after adjustments for lineage effects, the dispersion indices of synonymous and nonsynonymous substitutions were considerably reduced, and the latter was close to 1. These results indicated that the acceleration of evolutionary rates in the Cupressoideae lineage occurred in both the nuclear and plastid genomes, and that generally, this lineage effect affected synonymous and nonsynonymous substitutions similarly. We also investigated the relationship of synonymous substitution rates with the nonsynonymous substitution rate, base composition, and codon bias in each lineage. Synonymous substitution rates were positively correlated with nonsynonymous substitution rates and GC content at third codon positions, but synonymous substitution rates were not correlated with codon bias. Finally, we tested the possibility of positive selection at the protein level, using maximum likelihood models, assuming heterogeneous nonsynonymous-synonymous rate ratios among codon (amino acid) sites. Although we did not detect strong evidence of positively selected codon sites, the analysis suggested that significant variation in nonsynonymous-synonymous rate ratio exists among the sites. The most likely sites for action of positive selection were found in the ferredoxin gene, which is an important component of the apparatus for photosynthesis. 相似文献
18.
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
19.
Yves Van de Peer John S. Taylor Ingo Braasch Axel Meyer 《Journal of molecular evolution》2001,53(4-5):436-446
The duplication of genes and even complete genomes may be a prerequisite for major evolutionary transitions and the origin
of evolutionary novelties. However, the evolutionary mechanisms of gene evolution and the origin of novel gene functions after
gene duplication have been a subject of many debates. Recently, we compiled 26 groups of orthologous genes, which included
one gene from human, mouse, and chicken, one or two genes from the tetraploid Xenopus and two genes from zebrafish. Comparative analysis and mapping data showed that these pairs of zebrafish genes were probably
produced during a fish-specific genome duplication that occurred between 300 and 450 Mya, before the teleost radiation (Taylor
et al. 2001). As discussed here, many of these retained duplicated genes code for DNA binding proteins. Different models have
been developed to explain the retention of duplicated genes and in particular the subfunctionalization model of Force et al.
(1999) could explain why so many developmental control genes have been retained. Other models are harder to reconcile with
this particular set of duplicated genes. Most genes seem to have been subjected to strong purifying selection, keeping properties
such as charge and polarity the same in both duplicates, although some evidence was found for positive Darwinian selection,
in particular for Hox genes. However, since only the cumulative pattern of nucleotide substitutions can be studied, clear indications of positive
Darwinian selection or neutrality may be hard to find for such anciently duplicated genes. Nevertheless, an increase in evolutionary
rate in about half of the duplicated genes seems to suggest that either positive Darwinian selection has occurred or that
functional constraints have been relaxed at one point in time during functional divergence.
Received: 4 January 2001 / Accepted: 29 March 2001 相似文献
20.
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