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Horizontal gene transfer among genomes: the complexity hypothesis.

Increasingly, studies of genes and genomes are indicating that considerable horizontal transfer has occurred between prokaryotes. Extensive horizontal transfer has occurred for operational genes (those involved in housekeeping), whereas informational genes (those involved in transcription, translation, and related processes) are seldomly horizontally transferred. Through phylogenetic analysis of six complete prokaryotic genomes and the identification of 312 sets of orthologous genes present in all six genomes, we tested two theories describing the temporal flow of horizontal transfer. We show that operational genes have been horizontally transferred continuously since the divergence of the prokaryotes, rather than having been exchanged in one, or a few, massive events that occurred early in the evolution of prokaryotes. In agreement with earlier studies, we found that differences in rates of evolution between operational and informational genes are minimal, suggesting that factors other than rate of evolution are responsible for the observed differences in horizontal transfer. We propose that a major factor in the more frequent horizontal transfer of operational genes is that informational genes are typically members of large, complex systems, whereas operational genes are not, thereby making horizontal transfer of informational gene products less probable (the complexity hypothesis).

Biological Evolution↗

Molecular evolution of sex-biased genes in Drosophila.

Studies of morphology, interspecific hybridization, protein/DNA sequences, and levels of gene expression have suggested that sex-related characters (particularly those involved in male reproduction) evolve rapidly relative to non-sex-related characters. Here we report a general comparison of evolutionary rates of sex-biased genes using data from cDNA microarray experiments and comparative genomic studies of Drosophila. Comparisons of nonsynonymous/synonymous substitution rates (d(N)/d(S)) between species of the D. melanogaster subgroup revealed that genes with male-biased expression had significantly faster rates of evolution than genes with female-biased or unbiased expression. The difference was caused primarily by a higher d(N) in the male-biased genes. The same pattern was observed for comparisons among more distantly related species. In comparisons between D. melanogaster and D. pseudoobscura, genes with highly biased male expression were significantly more divergent than genes with highly biased female expression. In many cases, orthologs of D. melanogaster male-biased genes could not be identified in D. pseudoobscura through a Blast search. In contrast to the male-biased genes, there was no clear evidence for accelerated rates of evolution in female-biased genes, and most comparisons indicated a reduced rate of evolution in female-biased genes relative to unbiased genes. Male-biased genes did not show an increased ratio of nonsynonymous/synonymous polymorphism within D. melanogaster, and comparisons of polymorphism/divergence ratios suggest that the rapid evolution of male-biased genes is caused by positive selection.

Animals↗

A molecular approach to estimating the human deleterious mutation rate.

We propose a method of measuring the human genomic deleterious mutation rate based on comparison of the rate of evolution per nucleotide per generation of neutral sequences, microN, with the overall rate of evolution of unique sequence DNA, microO. Data on microN, which are based on pseudogenes, permit an estimate of the total zygotic (twice the genomic) mutation rate, UT = 2 microNn = 2(2 x 10(-8)(3 x 10(9)) approximately 10(2), where n is the number of nucleotides per genome. Data on microO can be obtained by comparison of representative samples of relatively short homologous sequences from the genomes of Homo and a related species. The fraction of the genome that is controlled by negative selection is fS = (microN - microO)/microN and the deleterious zygotic mutation rate, the expected number of new deleterious alleles carried by a zygote, is US = UTfS. If fS > 0.01, US > 1, which would have important implications for human genetics and evolutionary biology.

Biological Evolution↗

Mitochondrial DNA rates and biogeography in European newts (genus Euproctus).

Sequence divergence for segments of three mitochondrial DNA (mtDNA) genes encoding the 12S and 16S ribosomal RNA and cytochrome b was examined in newts belonging to the genus Euproctus (E. asper, E. montanus, E. platycephalus) and in three other species belonging to the same family (Salamandridae), Triturus carnifex, T. vulgaris, and Pleurodeles waltl. The three Euproctus species occur (one species each) in Corsica, Sardinia, and the Pyrenees. This vicariant distribution is believed to have been determined by the disjunction and rotation of the Sardinia-Corsica microplate from the Pyreneean region. Because time estimates are available for the tectonic events that led to the separation of the three landmasses, we used sequence data to estimate rates of evolution for the three gene fragments and investigated whether they conform to the rate-constancy hypothesis. By the Tajima (1993, Genetics 135:599-607) test, we could not detect rate heterogeneities for the ribosomal genes and for transversions in the cytochrome b gene. Assuming that these sites are evolving linearly over time and that cessation of gene flow occurred simultaneously with vicariant events, we compared the time of divergence estimated by molecular distances with the divergence times based on the geological estimates. Because we have two estimates of divergence time from the geological record, the split of Corsica/Sardinia from the Pyrenees and the split of Corsica from Sardinia, we could compare ratios of molecular divergence with the ratio of geological time divergence. The ratios are very similar, indicating that the molecular clock hypothesis cannot be rejected. These geological events also allowed us to calculate absolute rates of evolution for ribosomal and cytochrome b genes and compare them to rates for the same regions in other salamandrids and other vertebrates. Ribosomal mtDNA rates are comparable to those reported for other vertebrates, but cytochrome b rates are 3-7 times lower in salamanders than in other ectotherms. From a phylogenetic perspective, our data suggest that the cladogenic events leading to species formation in Euproctus and Triturus occurred very closely in time, indicating that the two genera may not be monophyletic. A duplication of the cytochrome b gene in T. carnifex was found, and the implications of this finding for mtDNA phylogenetic studies are discussed.

Animals↗

Likelihood, parsimony, and heterogeneous evolution.

Evolutionary rates vary among sites and across the phylogenetic tree (heterotachy). A recent analysis suggested that parsimony can be better than standard likelihood at recovering the true tree given heterotachy. The authors recommended that results from parsimony, which they consider to be nonparametric, be reported alongside likelihood results. They also proposed a mixture model, which was inconsistent but better than either parsimony or standard likelihood under heterotachy. We show that their main conclusion is limited to a special case for the type of model they study. Their mixture model was inconsistent because it was incorrectly implemented. A useful nonparametric model should perform well over a wide range of possible evolutionary models, but parsimony does not have this property. Likelihood-based methods are therefore the best way to deal with heterotachy.

Animals↗

Genetic stability of Ross River virus during epidemic spread in nonimmune humans.

We have examined the rate of evolution of Ross River virus, a mosquito-borne RNA virus, during epidemic spread through tens of thousands of nonimmune humans over a period of 10 months. Two regions of the Ross River virus genome were sequenced: the E2 gene (1.2 kb in length), which encodes the major neutralization determinant of the virus, and 0.4 kb of the 3'-untranslated region. In the E2 gene, a single nucleotide change was selected which led to a predicted amino acid change at residue 219. No changes were selected in the 3'-untranslated region. By comparison with rates of evolution reported for non-arthropod-borne RNA viruses, the rate for Ross River virus is surprisingly low. We identify three features of the Ross River virus replication and transmission cycle which may limit the rate of evolution of arthropod-borne viruses in the field.

Alphavirus↗

Neuropeptide families and their receptors: evolutionary perspectives.

Examination of families of neuropeptides and their receptors can provide information about phyletic relationships and evolutionary processes. Within an individual a given signal molecule may serve many diverse functions, mediated via subtypes of the receptor which may be coupled to their transduction mechanisms in different ways. The rate of evolution of a peptide may reflect or be reflected in the rate of evolution of its receptor. For example, in the neuropeptide Y (NPY) family, pancreatic polypeptide (PP) shows significant structural diversity, while NPY is highly conserved. Molecular forms of a given subtype of NPY receptor that is selectively activated by NPY (Y1 or Y2 or Y5) are also highly conserved, but the subtype that is primarily activated by PP (Y4), shows remarkable diversity. Also, between receptor subtypes there can be remarkable diversity. This is evident in several neuropeptide families, where a neuropeptide sequence is highly conserved across a wide range of species but where the receptor homology of subtypes with species tends to be much lower than homology between species. For example, human and rat vasopressin are identical, but the human V(1)- or V(2)-vasopressin receptors are approximately 80% homologous with rat V(1)- or V(2)-receptors, but within humans or rats the V(1)-receptor is less than 50% homologous with the V(2)-receptor. Furthermore, duplication of an ancestral gene is thought to have led to the co-presence in eutherian mammals of oxytocin and vasopressin, which have maintained a close structural similarity, yet in many species the oxytocin receptor is only 30 to 50% homologous with vasopressin receptors. Thus it appears that there has been greater evolutionary pressure to conserve the signal molecule, than to conserve the structure of the receptor. Evaluation of the evolution of neuropeptides and their receptors may be useful in determining phyletic relationships. Traditional classification places the guinea pig as a hystricomorph rodent within the same order (Rodentia) as the muriform or myomorph rat and mouse. However, molecular analyses of polypeptides have led to the suggestion that guinea pigs belong to a distinct order. Analysis of several neuropeptide sequences and the Y4 receptor supports this view. In general terms for both neuropeptides and receptors, sequence homology reflects phylogeny and taxonomy as based on morphological features. Within the oxytocin/vasopressin family in which peptides and receptors have been characterised in invertebrate representatives as well as fish and amphibia in addition to mammals, the molecular diversity correlates well with evolutionary diversity.

Animals↗

Calibrating rates of early Cambrian evolution.

An explosive episode of biological diversification occurred near the beginning of the Cambrian period. Evolutionary rates in the Cambrian have been difficult to quantify accurately because of a lack of high-precision ages. Currently, uranium-lead zircon geochronology is the most powerful method for dating rocks of Cambrian age. Uranium-lead zircon data from lower Cambrian rocks located in northeast Siberia indicate that the Cambrian period began at approximately 544 million years ago and that its oldest (Manykaian) stage lasted no less than 10 million years. Other data indicate that the Tommotian and Atdabanian stages together lasted only 5 to 10 million years. The resulting compression of Early Cambrian time accentuates the rapidity of both the faunal diversification and subsequent Cambrian turnover.

Biological Evolution↗

Rapid evolution of the family of CONSTANS LIKE genes in plants.

A family of CONSTANS LIKE genes (COLs) has recently been identified in Arabidopsis thaliana and other plant species. CONSTANS, the first isolated member, is a putative zinc finger transcription factor that promotes the induction of flowering in A. thaliana in long photoperiods. Phylogenetic analysis of the COL family demonstrated that it is organized into a few distinct groups, some of which evolved before the divergence of gymnosperms and angiosperms. Molecular evolutionary analyses showed that COL genes within the Brassicaceae family evolve rapidly. The number of nonsynonymous substitutions was larger, and the ratio of nonsynonymous to synonymous substitutions was higher. The analysis also indicated that the rate of evolution is heterogeneous between different domains in the COL genes. The results support previous data indicating that plant regulatory genes evolve relatively fast and that the rate of evolution varies significantly between different regions of those genes. The rate of evolution of COL genes seems to have accelerated during later stages of evolution, possibly as an effect of frequent gene duplications.

Amino Acid Sequence↗

Genome-wide acceleration of protein evolution in flies (Diptera).

BACKGROUND: The rate of molecular evolution varies widely between proteins, both within and among lineages. To what extent is this variation influenced by genome-wide, lineage-specific effects? To answer this question, we assess the rate variation between insect lineages for a large number of orthologous genes. RESULTS: When compared to the beetle Tribolium castaneum, we find that the stem lineage of flies and mosquitoes (Diptera) has experienced on average a 3-fold increase in the rate of evolution. Pairwise gene comparisons between Drosophila and Tribolium show a high correlation between evolutionary rates of orthologous proteins. CONCLUSION: Gene specific divergence rates remain roughly constant over long evolutionary times, modulated by genome-wide, lineage-specific effects. Among the insects analysed so far, it appears that the Tribolium genes show the lowest rates of divergence. This has the practical consequence that homology searches for human genes yield significantly better matches in Tribolium than in Drosophila. We therefore suggest that Tribolium is better suited for comparisons between phyla than the widely employed dipterans.

Animals↗

Structure, evolution, and tissue-specific synthesis of human apolipoprotein AIV.

Apolipoprotein AIV (apoAIV) is a protein of the lipid transport system found associated with chylomicrons, high-density lipoprotein (HDL), and the lipoprotein-free fraction of the plasma. The gene coding for the human apoAIV is closely linked with the genes coding for apolipoproteins AI (apoAI) and CIII (apoCIII). In this paper a nearly full-length apoAIV cDNA clone has been isolated by screening an adult human liver DNA library using a human apoAIV gene probe. In-frame translation of the cDNA sequence in this clone indicated that the human apoAIV consists of 396 amino acid residues including a 20 residue long signal peptide. The coding region of this cDNA sequence contains 15 nucleotide repeats, 11 of which code for amino acid repeats with potentials of forming amphipathic helices. Alignment and comparison of the human and rat apoAIV amino acid sequences indicated a five-residue deletion near the carboxy terminus of the rat protein. This comparison also indicated that these proteins are 61.8% homologous, suggesting that the rate of evolution of apoAIV is 65 accepted point mutations (PAMs) per 100 residues per 100 million years. The rates of evolution of certain amino acid repeats in apoAIV are higher than the rate of evolution of the entire protein. However, the corresponding, computer-generated, secondary structures and hydropathy profiles of these repeats are very similar between the human and rat apoAIV. The relative steady-state levels of apoAIV mRNA in various human and monkey tissues were determined by hybridization blotting analysis of total RNA from these tissues using a human apoAIV cDNA probe.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Evolution of the dystrophin muscular promoter and 5' flanking region in primates.

About 1.6 kb of the noncoding region upstream of the muscular dystrophin gene was sequenced in human and other primates. The alignment showed the existence of many stretches of conserved sequences among the compared species distributed all along the investigated fragment, including the 5' end. In correspondence to these conserved boxes, we identified several new putative cis-acting elements that have similarity to known control regions of other muscle-specific genes. In some cases, however, the conserved sequences did not correspond to any known transcription factor binding sites. The rate of evolution estimated site by site all along the investigated region revealed a nonhomogeneous distribution of the substitution rate, several sequences exhibited a very slow rate of evolution suggesting that evolutionary forces of different nature may be at work. On the basis of the sequence alignment, we reconstructed the phylogenetic relationships within the hominoid lineage. In addition, we estimated the relative rate of evolution between hominoid and Old World monkeys, confirming the existence of an evolutionary slowdown in the hominoid lineage.

Animals↗

Cloning and sequence analysis of a pituitary prolactin cDNA from the brushtail possum (Trichosurus vulpecula).

Overlapping cDNA partial clones of pituitary prolactin from the marsupial brushtail possum (Trichosurus vulpecula) were isolated and sequenced. The nucleotide and deduced amino acid sequences showed high sequence identity with pig prolactin (84.3 and 92.5%, respectively) and all of the expected structural features of a quadruped prolactin. A prolactin gene tree was constructed and rates of evolution calculated for possum along with several mammalian and nonmammalian prolactins. Possum prolactin was most closely linked to the prolactins of eutherian mammals but branched from the main mammalian line well before the eutherian prolactins. The prolactin/GH family shows variable rates of evolution ranging from 0.3 substitutions/amino acid site/year x 10(9) for pig prolactin to 7.0 substitutions/ amino acid site/year x 10(9) for the mouse. Since divergence from the eutherian mammals, possum prolactin has shown a slow rate of evolution (0.2 substitutions/ amino acid site/year x 10(9)). As expected, the prolactin gene was expressed in the possum pituitary gland but not in the liver, lung, kidney, heart, or mammary gland.

Amino Acid Sequence↗

Predicting functional divergence in protein evolution by site-specific rate shifts.

Most modern tools that analyze protein evolution allow individual sites to mutate at constant rates over the history of the protein family. However, Walter Fitch observed in the 1970s that, if a protein changes its function, the mutability of individual sites might also change. This observation is captured in the "non-homogeneous gamma model", which extracts functional information from gene families by examining the different rates at which individual sites evolve. This model has recently been coupled with structural and molecular biology to identify sites that are likely to be involved in changing function within the gene family. Applying this to multiple gene families highlights the widespread divergence of functional behavior among proteins to generate paralogs and orthologs.

Amino Acid Sequence↗

Primary structure of rat lysozyme.

For evolutionary reasons, we determined the primary structure of rat lysozyme. The chymotryptic peptides from the reduced and carboxymethylated protein were sequenced and aligned by homology with the sequence of human lysozyme. Overlaps were confirmed by partial structures of tryptic peptides and an automatic sequencer run on the whole protein. By comparing this lysozyme sequence with those of human and baboon and taking into account paleontological estimates of the times of divergence of these species from one another, an approximate estimate of the average rate of lysozyme evolution was made. This rate is not significantly different from the average rate of lactalbumin evolution in mammals--a finding which is at variance with Dickerson's [Dickerson, R.E. (1971), J. Mol. Evol. 1, 26] and Dayhoff's [Dayhoff, m.o., ed. (1972), Atlas of Protein Structure and Sequence, Vol. 5, Silver Spring, Md., The National Biomedical Research Foundation] conclusion that lactalbumin evolution has been faster than lysozyme evolution. Our finding raises the possibility that the gene duplication event responsible for the origin of lactalbumin from lysozyme was more ancient than is generally supposed. Furthermore, from comparison of the rates of lysozyme evolution in rodents and primates, it is suggested that generation time is not a key factor in lysozyme evolution.

Amino Acid Sequence↗

Evolution of self-rated health status in the elderly: cross-sectional vs. longitudinal estimates.

We assessed the perceived health status evolution among elderly subjects and examined the age-related differences in perceived health when comparing estimates obtained from cross-sectional and longitudinal approaches. Data come from a cohort of non-institutionalized individuals aged 65 years or older, living in Barcelona, Spain. One thousand three hundred fifteen (1315) elderly were successfully interviewed at baseline in 1986 and 754 (84.6% of the eligible) at the re-assessment (1993-1994). Estimates of change in perceived health status were calculated based on cross-sectional and longitudinal approaches. Cross-sectionally, no significant differences in the proportion of individuals with poor self-rated health were found (40.5 vs. 42.5%, P = 0.90). Among survivors, the proportion of individuals with poor health increased from 37.8% to 55.1% (P < 0.01), an 8.7-fold decline of perceived health when compared with the cross-sectional estimates. Comorbidity (aOR 2.1; 95%CI: 1.4-3.3) and no education (aOR 1.9; 95%CI: 1.1-3.2) were associated with a decline in health status after adjusting by baseline health status. We recommend the use of longitudinal studies to understand the evolution of perceived health in the elderly.

Aged↗

Evolution of glomerular filtration rate in proteinuric NIDDM patients.

OBJECTIVE: To evaluate, by means of a precise method, the rate of decline of glomerular filtration rate in proteinuric non-insulin-dependent diabetic (NIDDM) patients. RESEARCH DESIGN AND METHODS: The study was comprised of seven NIDDM patients who visited an outpatient clinic and had a 24-h urinary protein excretion rate greater than or equal to 500 mg in the absence of heart failure, urinary tract infection, or other nephropathies. RESULTS: Glomerular filtration rate (51Cr-labeled EDTA, single-injection protocol) and 24-h proteinuria (turbidimetric method) were assessed at periodic intervals (2-6 mo). Correlation of the measurements with time (Pearson's r, with Student's t test used to assess the significance, alpha = 0.05) was used to evaluate the trend of evolution of glomerular filtration rate. Renal biopsies were performed in four patients. In three of four patients, renal histopathology was consistent with the diagnosis of diabetic nephropathy (in the 4th patient measurements were not satisfactory). Neither glomerular filtration rate nor proteinuria correlated significantly with time, except in one patient who had multiple myeloma. CONCLUSIONS: The decline of glomerular filtration rate in proteinuric NIDDM patients is different from that observed in insulin-dependent diabetic patients, which is probably much slower.

Aged↗

Trends and rates of microevolution in plants.

Evidence for rapid evolutionary change in plants in response to changing environmental conditions is widespread in the literature. However, evolutionary change in plant populations has not been quantified using a rate metric that allows for comparisons between and within studies. One objective of this paper is to estimate rates of evolution using data from previously published studies to begin a foundation for comparison and to examine trends and rates of microevolution in plants. We use data gathered from studies of plant adaptations in response to heavy metals, herbicide, pathogens, changes in pH, global change, and novel environments. Rates of evolution are estimated in the form of two metrics, darwins and haldanes. A second objective is to demonstrate how estimated rates could be used to address specific microevolutionary questions. For example, we examine how evolutionary rate changes with time, life history correlates of evolutionary rates, and whether some types of traits evolve faster than others. We also approach the question of how rates can be used to predict patterns of evolution under novel selection pressures using two contemporary examples: introductions of non-native species to alien environments and global

Adaptation, Biological↗