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1.
Codon bias and base composition in major histocompatibility complex (MHC) sequences have been studied for both class I and
II loci in Homo sapiens and Pan troglodytes. There is low to moderate codon bias for the MHC of humans and chimpanzees. In the class I loci, the same level of moderate
codon bias is seen for HLA-B, HLA-C, Patr-A, Patr-B, and Patr-C, while at HLA-A the level of codon bias is lower. There is a correlation between codon usage bias and G+C content in the A and B loci in humans and chimps, but not at the C locus. To examine the effect of diversifying selection on codon bias, we subdivided class I alleles into antigen recognition
site (ARS) and non-ARS codons. ARS codons had lower bias than non-ARS codons. This may indicate that the constraint of codon
bias on nucleotide substitution may be selected against in ARS codons. At the class II loci, there are distinct differences
between alpha and beta chain genes with respect to codon usage, with the beta chain genes being much more biased. Species-specific
differences in base composition were seen in exon 2 at the DRB1 locus, with lower GC content in chimpanzees. Considering the complex evolutionary history of MHC genes, the study of codon
usage patterns provides us with a better understanding of both the evolutionary history of these genes and the evolution of
synonymous codon usage in genes under natural selection.
Received: 2 April 1998 / Revised: 2 September 1998 相似文献
2.
3.
Patterns of nucleotide substitution in pseudogenes and functional genes 总被引:26,自引:0,他引:26
Summary The pattern of point mutations is inferred from nucleotide substitutions in pseudogenes. The pattern obtained suggests that transition mutations occur somewhat more frequently than transversion mutations and that mutations result more often in A or T than in G or C. Our results are discussed with respect to the predictions from Topal and Fresco's model for the molecular basis of point (substitution) mutations (Nature 263:285–289, 1976). The pattern of nucleotide substitution at the first and second positions of codons in functional genes is quite similar to that in pseudogenes, but the relative frequency of the transition CT in the sense strand is drastically reduced and those of the transversions CG and GC are doubled. The differences between the two patterns can be explained by the observation that in the protein evolution amino acid substitutions occur mainly between amino acids with similar biochemical properties (Grantham, Science 185:862–864, 1974). Our results for the patterns of nucleotide substitutions in pseudogenes and in functional genes lead to the prediction that both the coding and non-coding regions of protein coding genes should have high frequencies of A and T. Available data show that the non-coding regions are indeed high in A and T but the coding regions are low in T, though high in A. 相似文献
4.
The rate heterogeneity of nonsynonymous substitutions in mammalian mitochondrial genes 总被引:4,自引:3,他引:1
Substitution rates at the three codon positions (r1, r2, and r3) of
mammalian mitochondrial genes are in the order of r3 > r1 > r2, and
the rate heterogeneity at the three positions, as measured by the shape
parameter of the gamma distribution (alpha 1, alpha 2, and alpha 3), is in
the order of alpha 3 > alpha 1 > alpha 2. The causes for the rate
heterogeneity at the three codon positions remain unclear and, in
particular, there has been no satisfactory explanation for the observation
of alpha 1 > alpha 2. I attempted to dissect the causes of rate
heterogeneity by studying the pattern of nonsynonymous substitutions with
respect to codon positions in 10 mitochondrial genes from 19 mammalian
species. Nonsynonymous substitutions involve more different amino acid
replacements at the second than at the first codon position, which results
in r1 > r2. The difference between r1 and r2 increases with the
intensity of purifying selection, and so does the rate heterogeneity in
nonsynonymous substitutions among sites at the same codon position. All
mitochondrial genes appear to have functionally important and unimportant
codons, with the latter having all three codon positions prone to
nonsynonymous substitutions. Within the functionally important codons, the
second codon position is much more conservative than the codon position.
This explains why alpha 1 > alpha 2. The result suggests that
overweighting of the second codon position in phylogenetic analysis may be
a misguided practice.
相似文献
5.
Evidence from nuclear sequences that invariable sites should be considered when sequence divergence is calculated 总被引:3,自引:1,他引:2
It has long been known, from the distribution of multiple amino acid
replacements, that not all amino acids of a sequence are replaceable. More
recently, the phenomenon was observed at the nucleotide level in
mitochondrial DNA even after allowing for different rates of transition and
transversion substitutions. We have extended the search to globin gene
sequences from various organisms, with the following results: (1) Nearly
every data set showed evidence of invariable nucleotide positions. (2) In
all data sets, substitution rates of transversions and transitions were
never in the ratio of 2/1, and rarely was the ratio even constant. (3) Only
rarely (e.g., the third codon position of beta hemoglobins) was it possible
to fit the data set solely by making allowance for the number of invariable
positions and for the relative rates of transversion and transition
substitutions. (4) For one data set (the second codon position of beta
hemoglobins) we were able to simulate the observed data by making the
allowance in (3) and having the set of covariotides (concomitantly variable
nucleotides) be small in number and be turned over in a stochastic manner
with a probability that was appreciable. (5) The fit in the latter case
suggests, if the assumptions are correct and at all common, that current
procedures for estimating the total number of nucleotide substitutions in
two genes since their divergence from their common ancestor could be low by
as much as an order of magnitude. (6) The fact that only a small fraction
of the nucleotide positions differ is no guarantee that one is not
seriously underestimating the total amount of divergence (substitutions).
(7) Most data sets are so heterogeneous in their number of transition and
transversion differences that none of the current models of nucleotide
substitution seem to fit them even after (a) segregation of coding from
noncoding sequences and (b) splitting of the codon into three subsets by
codon position. (8) These frequently occurring problems cannot be seen
unless several reasonably divergent orthologous genes are examined
together.
相似文献
6.
Twelve of 30 species examined in the ant genus Polyrhachis carry single nucleotide insertions at one or two positions within the mitochondrial cytochrome b (cytb) gene. Two of the sites are present in more than one species. Nucleotide substitutions in taxa carrying insertions show the strong codon position bias expected of functional protein coding genes, with substitutions concentrated in the third positions of the original reading frame. This pattern of evolution of the sequences strongly suggests that they are functional cytb sequences. This result is not the first report of +1 frameshift insertions in animal mitochondrial genes. A similar site was discovered in vertebrates, where single nucleotide frameshift insertions in many birds and a turtle were reported by Mindell et al. (Mol Biol Evol 15:1568, 1998). They hypothesized that the genes are correctly decoded by a programmed frameshift during translation. The discovery of four additional sites gives us the opportunity to look for common features that may explain how programmed frameshifts can arise. The common feature appears to be the presence of two consecutive rare codons at the insertion site. We hypothesize that the second of these codons is not efficiently translated, causing a pause in the translation process. During the stall the weak wobble pairing of the tRNA bound in the peptidyl site of the ribosome, together with an exact Watson–Crick codon–anticodon pairing in the +1 position, allows translation to continue in the +1 reading frame. The result of these events is an adequate level of translation of a full-length and fully functional protein. A model is presented for decoding of these mitochondrial genes, consistent with known features of programmed translational frameshifting in the yeast TY1 and TY3 retrotransposons.Reviewing Editor: Dr. W. Ford Doolittle 相似文献
7.
Mitochondrial DNA polymorphisms as risk factors for Parkinson’s disease and Parkinson’s disease dementia 总被引:8,自引:0,他引:8
Autere J Moilanen JS Finnilä S Soininen H Mannermaa A Hartikainen P Hallikainen M Majamaa K 《Human genetics》2004,115(1):29-35
The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinsons disease (PD), but no mutations have been identified in genes encoding complex I subunits. Recent studies have suggested that polymorphisms in mitochondrial DNA (mtDNA)-encoded complex I genes (MTND) modify susceptibility to PD. We hypothesize that the risk of PD is conveyed by the total number of nonsynonymous substitutions in the MTND genes in various mtDNA lineages rather than by single mutations. To test this possibility, we determined the number of nonsynonymous substitutions of the seven MTND genes from 183 Finns. The differences in the total number of nonsynonymous substitutions and the nonsynonymous to synonymous substitution rate ratio (Ka/Ks) of MTND genes between the European mtDNA haplogroup clusters (HV, JT, KU, IWX) were analysed by using a statistical approach. Patients with PD (n=238) underwent clinical examination together with mtDNA haplogroup analysis and the clinical features between patient groups defined by the number of nonsynonymous substitutions were compared. Our analysis revealed that the haplogroup clusters HV and KU had a lower average number of amino acid replacements and a lower Ka/Ks ratio in the MTND genes than clusters JT and IWX. Supercluster JTIWX with the highest number of amino acid replacements was more frequent among PD patients and even more frequent among patients with PD who developed dementia. Our results suggest that a relative excess of nonsynonymous mutations in MTND genes in supercluster JTWIX is associated with an increased risk of PD and the disease progression to dementia. 相似文献
8.
Protein-coding sequences of 337 human genes were compared with those of homologous genes from rodent (mouse or rat). A composite alignment containing 477,189 nucleotide positions was constructed, and 21,570 amino acid replacements were inferred. The rates of transitional and transversional silent substitutions in fourfold degenerate sites are estimated as 1.71 × 10-9 and 1.22 × 10-9 site-1 year-1, respectively. Rates of substitutions in replacement sites, subject to selective constraints mediated by the genetic code, are lower, but also reflect a transitional bias. The amino acid exchange rejected least often during evolution is Asp/Glu, which is fixed at 30% the rate of transversions in silent sites. The most mutable amino acids in this survey are threonine and serine; serine coded by AGY is more mutable than serine coded by TCN. A scoring matrix for evaluating amino acid similarity was derived from this study. 相似文献
9.
Stephania A. Cormier Kirsten A. Larson Shubing Yuan Trella L. Mitchell Kari Lindenberger Patricia Carrigan Nancy A. Lee James J. Lee 《Mammalian genome》2001,12(5):352-361
A unique family of ribonucleases was identified by exhaustive screening of genomic and cDNA libraries using a probe derived
from a gene encoding a ribonuclease stored in the mouse eosinophil secondary granule. This family contains at least 13 genes,
which encode ribonucleases, and two potential pseudogenes. The conserved sequence identity among these genes (∼70%), as well
as the isolation/purification of these ribonucleases from eosinophil secondary granules, has led us to conclude that these
genes form a unique clade in the mouse that we have identified as the Ear (Eosinophil-associated ribonuclease) gene family. Analyses of the nucleotide substitutions that have occurred among these ribonuclease genes reveal
that duplication events within this family have been episodic, occurring within three unique periods during the past 18 ×
106 years. Moreover, comparisons of non-synonymous (Ka) vs. synonymous (Ks) rates of nucleotide substitution show that although these genes conserve residues necessary for RNase activity, selective
evolutionary pressure(s) exist such that acquired amino acid changes appear to be advantageous. The selective advantage of
these amino acid changes is currently unclear, but the occurrence of this phenomenon in both the mouse and the human highlights
the importance of these changes for Ear and, therefore, eosinophil effector function(s).
Received: 25 October 2000 / Accepted: 18 December 2000 相似文献
10.
Cecilia Lanave Giuliano Preparata Cecilia Saccone 《Journal of molecular evolution》1985,21(4):346-350
Summary In analyzing the silent nucleotide substitutions in some mammalian mitochondrial mRNA coding genes, we had found that the frequency of each of the four nucleotides in rat, mouse, and cow, but not in humans, is the same in the silent third codon position (Lanave C, Preparata G, Saccone C, Serio G (1984) J Mol Evol 20:86-93). Because our findings for these three species were compatible with a stationary Markov process for the evolution of nucleotide sequences, we applied such a model to calculate the effective evolutionary silent substitution rate (vs) and the divergence times among the species. In this paper we have analyzed the first and second codon positions in the same mammalian mitochondrial genes. We found that in the first and second codon positions the human mitochondrial genes satisfy the stationarity conditions. This has allowed us to use the stochastic model mentioned above to calculate the divergence times among mouse, rat, cow, and human. Furthermore, we have analyzed the silent substitution rate in one nuclear gene for these four mammals. We found that in this gene the effective silent substitution rate is about 3 times lower than in mitochondrial genes, and that humans are in this case stationary with respect to the other three mammals in the third codon position as well. Application of our Markov model to this latter gene yields divergence times consistent with our previous determinations. 相似文献
11.
Preferential use of A- and U-rich codons for Mycoplasma capricolum ribosomal proteins S8 and L6. 总被引:17,自引:4,他引:13 下载免费PDF全文
The nucleotide sequence of the 1.3 kilobase-pair DNA segment, which contains the genes for ribosomal proteins S8 and L6, and a part of L18 of Mycoplasma capricolum, has been determined and compared with the corresponding sequence in Escherichia coli (Cerretti et al., Nucl. Acids Res. 11, 2599, 1983). Identities of the predicted amino acid sequences of S8 and L6 between the two organisms are 54% and 42%, respectively. The A + T content of the M. capricolum genes is 71%, which is much higher than that of E. coli (49%). Comparisons of codon usage between the two organisms have revealed that M. capricolum preferentially uses A- and U-rich codons. More than 90% of the codon third positions and 57% of the first positions in M. capricolum is either A or U, whereas E. coli uses A or U for the third and the first positions at a frequency of 51% and 36%, respectively. The biased choice of the A- and U-rich codons in this organism has been also observed in the codon replacements for conservative amino acid substitutions between M. capricolum and E. coli. These facts suggest that the codon usage of M. capricolum is strongly influenced by the high A + T content of the genome. 相似文献
12.
Molecular Nature of Spontaneous Mutations in Mouse Lactate Dehydrogenase-a Processed Pseudogenes 下载免费PDF全文
Kayoko M. Fukasawa Masako Tanimura Ikuya Sakai Farida S. Sharief Fu-Zon Chung Steven S.-L. Li 《Genetics》1987,115(1):177-184
The presence of at least ten mouse LDH-A pseudogenes was demonstrated in the genomic blot analysis, and four different processed pseudogenes have thus far been isolated and characterized. In this report, the nucleotide sequences to two different mouse lactate dehydrogenase-A processed pseudogenes, M11 and M14, were determined and compared with the protein-coding sequences of the mouse and rat LDH-A functional genes. In the pseudogene M11, the sequence of 64 nucleotides from codon no. 257 to 278 was tandemly duplicated. In the pseudogene M14, the sequence of 22 nucleotides from codon no. 68 to 75 was replaced by an inserted repetitive sequence of 242 nucleotides homologous to a mouse truncated R element. The pattern of nucleotide substitutions accumulated in mouse LDH-A pseudogenes M11 and M14, as well as that of pseudogene M10 identified previously, was analyzed, and the substitution frequencies of the C or G at the CG dinucleotide were found to be high. 相似文献
13.
Rates of Synonymous Substitution and Base Composition of Nuclear Genes in Drosophila 总被引:2,自引:0,他引:2
We compared the rates of synonymous (silent) substitution among various genes in a number of species of Drosophila. First, we found that even for a particular gene, the rate of synonymous substitution varied considerably with Drosophila lineages. Second, we showed a large variation in synonymous substitution rates among nuclear genes in Drosophila. These rates of synonymous substitution were correlated negatively with C content and positively with A content at the third codon positions. Nucleotide sequences were also compared between pseudogenes and their functional homologs. The C content of the pseudogenes was lower than that of the functional genes and the A content of the former was higher than that of the latter. Because the synonymous substitution for functional genes and the nucleotide substitution for pseudogenes are exempted from any selective constraint at the protein level, these observations could be explained by a biased pattern of mutation in the Drosophila nuclear genome. Such a bias in the mutation pattern may affect the molecular clock (local clock) of each nuclear gene of each species. Finally, we obtained the average rates of synonymous substitution for three gene groups in Drosophila; 11.0 x 10(-9), 17.5 x 10(-9) and 27.1 x 10(-9)/site/year. 相似文献
14.
We have amplified and characterized partial regions of exons 2 and 3 of the bovine BCL2L1 gene, one of the anti-apoptotic members of the B-cell lymphoma 2 gene family. Cloning and sequencing of the amplified products revealed the existence of several BCL2L1-related sequences, including the bovine BCL2L1 gene and various processed pseudogenes. The bovine BCL2L1 gene revealed two polymorphic nucleotide sequences that resulted in two protein variants, with amino acid replacements at positions 60 and 69. In addition, we report three bovine BCL2L1-related sequences (BCL2L1psi) that probably correspond to intronless processed pseudogenes. These BCL2L1psi pseudogene sequences have accumulated multiple substitutions, deletions and insertions that translated into stop codons or changed the open reading frame of the functional gene. We provide evidence suggesting that the retro-transposition event that originated these processed pseudogenes took place before the divergence of the Cervidae and Bovidae families. 相似文献
15.
Wild brook charr populations (Salvelinus fontinalis) completely introgressed with the mitochondrial genome (mtDNA) of arctic charr (Salvelinus alpinus) are found in several lakes of northeastern Québec, Canada. Mitochondrial respiratory enzymes of these populations are thus encoded by their own nuclear DNA and by arctic charr mtDNA. In the present study we performed a comparative sequence analysis of the whole mitochondrial genome of both brook and arctic charr to identify the distribution of mutational differences across these two genomes. This analysis revealed 47 amino acid replacements, 45 of which were confined to subunits of the NADH dehydrogenase complex (Complex I), one in the cox3 gene (Complex IV), and one in the atp8 gene (Complex V). A cladistic approach performed with brook charr, arctic charr, and two other salmonid fishes (rainbow trout [Oncorhynchus mykiss] and Atlantic salmon [Salmo salar]) revealed that only five amino acid replacements were specific to the charr comparison and not shared with the other two salmonids. In addition, five amino acid substitutions localized in the nad2 and nad5 genes denoted negative scores according to the functional properties of amino acids and, therefore, could possibly have an impact on the structure and functional properties of these mitochondrial peptides. The comparison of both brook and arctic charr mtDNA with that of rainbow trout also revealed a relatively constant mutation rate for each specific gene among species, whereas the rate was quite different among genes. This pattern held for both synonymous and nonsynonymous nucleotide positions. These results, therefore, support the hypothesis of selective constraints acting on synonymous codon usage. 相似文献
16.
The hepatitis B virus (HBV) has a circular DNA genome of about 3,200 base pairs. Economical use of the genome with overlapping reading frames may have led to severe constraints on nucleotide substitutions along the genome and to highly variable rates of substitution among nucleotide sites. Nucleotide sequences from 13 complete HBV genomes were compared to examine such variability of substitution rates among sites and to examine the phylogenetic relationships among the HBV variants. The maximum likelihood method was employed to fit models of DNA sequence evolution that can account for the complexity of the pattern of nucleotide substitution. Comparison of the models suggests that the rates of substitution are different in different genes and codon positions; for example, the third codon position changes at a rate over ten times higher than the second position. Furthermore, substantial variation of substitution rates was detected even after the effects of genes and codon positions were corrected; that is, rates are different at different sites of the same gene or at the same codon position. Such rates after the correction were also found to be positively correlated at adjacent sites, which indicated the existence of conserved and variable domains in the proteins encoded by the viral genome. A multiparameter model validates the earlier finding that the variation in nucleotide conservation is not random around the HBV genome. The test for the existence of a molecular clock suggests that substitution rates are more or less constant among lineages. The phylogenetic relationships among the viral variants were examined. Although the data do not seem to contain sufficient information to resolve the details of the phylogeny, it appears quite certain that the serotypes of the viral variants do not reflect their genetic relatedness.
Correspondence to: Z. Yang 相似文献
17.
Cytochrome b DNA sequence data (ca. 1,140 bp) of 44 Alouatta caraya, including 42 specimens from three localities of Brazil and two from Bolivia, were used for phylogenetic reconstructions and population studies. Seventeen haplotypes were identified, eight of which were present in more than one individual. Seven of these eight haplotypes were shared by individuals from a same locality and one by individuals from two localities. We found 26 variable sites along the entire gene, consisting of 18 transitions and eight transversions; most replacements occurring at the third codon position (65.39%) in contrast to first and second positions (26.92 and 7.69%, respectively). In the sample collected at Chapada dos Guimarães (Brazil), nucleotide and haplotype diversity estimates were π=0.002325 and h=0.8772, respectively. Maximum parsimony analysis grouped all haplotypes in two clades, separating Bolivian haplotypes from Brazilian haplotypes, the grouping of which did not show a straightforward correspondence with geographic distribution. Median‐joining and TCS network pointed to haplotypes 11 or 12 as the most likely ancestral ones. Mismatch distribution and the goodness‐of‐fit test (SSD estimate=0.0027; P=0.6999) indicated that the population from Chapada dos Guimarães experienced a demographic expansion, in agreement with the median‐joining star‐like pattern, although this finding could not be confirmed by Fu's Fs test. Am. J. Primatol. 69:1093–1104, 2007. © 2007 Wiley‐Liss, Inc. 相似文献
18.
Mitochondrial fragments containing the cytochrome b gene (1020 bp in size) of four bird species belonging to four genera of the family Tetraonidae (Tetrao parvirostris, Bonasa umbellus, Lagopus lagopus scoticus, and Falcipennis falcipennis) were directly sequenced. Of the 1020 nucleotide positions, 186 were variable and uniformly distributed over the gene and only 46 were parsimony informative. Most substitutions were synonymous. Replacement substitutions were detected for 15 out of 340 amino acid sites; only four replacements were parsimony informative. The greatest codon bias was found for leucine and serine. The C-T transitions and the G-C transversions were, respectively, the most common (60.7%) and the most rare (5.9%). The mutation frequencies were high at the third codon position (85.2%) and relatively low at the first and the second position. At the third codon position of the species examined, the guanine content was the lowest (3.3%) and the cytosine content was the highest (44.5%). Based on the cytochrome b gene sequences, phylogenetic relationships in the order Galliformes are inferred. 相似文献
19.
The Mitochondrial Genome of the Honeybee Apis Mellifera: Complete Sequence and Genome Organization 总被引:27,自引:4,他引:23
The complete sequence of honeybee (Apis mellifera) mitochondrial DNA is reported being 16,343 bp long in the strain sequenced. Relative to their positions in the Drosophila map, 11 of the tRNA genes are in altered positions, but the other genes and regions are in the same relative positions. Comparisons of the predicted protein sequences indicate that the honeybee mitochondrial genetic code is the same as that for Drosophila; but the anticodons of two tRNAs differ between these two insects. The base composition shows extreme bias, being 84.9% AT (cf. 78.6% in Drosophila yakuba). In protein-encoding genes, the AT bias is strongest at the third codon positions (which in some cases lack guanines altogether), and least in second codon positions. Multiple stepwise regression analysis of the predicted products of the protein-encoding genes shows a significant association between the numbers of occurrences of amino acids and %T in codon family, but not with the number of codons per codon family or other parameters associated with codon family base composition. Differences in amino acid abundances are apparent between the predicted Apis and Drosophila proteins, with a relative abundance in the Apis proteins of lysine and a relative deficiency of alanine. Drosophila alanine residues are as often replaced by serine as conserved in Apis. The differences in abundances between Drosophila and Apis are associated with %AT in the codon families, and the degree of divergence in amino acid composition between proteins correlates with the divergence in %AT at the second codon positions. Overall, transversions are about twice as abundant as transitions when comparing Drosophila and Apis protein-encoding genes, but this ratio varies between codon positions. Marked excesses of transitions over chance expectation are seen for the third positions of protein-coding genes and for the gene for the small subunit of ribosomal RNA. For the third codon positions the excess of transitions is adequately explained as due to the restriction of observable substitutions to transitions for conserved amino acids with two-codon families; the excess of transitions over expectation for the small ribosomal subunit suggests that the conservation of nucleotide size is favored by selection. 相似文献
20.
Hironao Hozumi Noriyuki Enomoto Masato Kono Tomoyuki Fujisawa Naoki Inui Yutaro Nakamura Hiromitsu Sumikawa Takeshi Johkoh Ran Nakashima Yoshitaka Imura Tsuneyo Mimori Takafumi Suda 《PloS one》2015,10(3)