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PubMed2000

The role of genetic factors in the etiology of seasonality and seasonal affective disorder: an evolutionary approach.

The degree to which seasonal changes affect mood, energy, sleep, appetite, food preference, or the wish to socialize with other people has been called seasonality. Seasonal affective disorder (SAD), a condition where depressions in fall and winter alternate with non-depressed periods in spring and summer, is the most marked form of seasonality. Several lines of evidence suggest that genetic factors play an important role in the etiology of seasonality and SAD. Millions of years of evolution and adaptation have optimized human biochemical and physiological systems for function and survival under equatorial environmental conditions. Modern humans began their migration out of Africa only about 150 000 years ago. Little change in our 'equatorial' systems might have been expected over this relatively short evolutionary time-span. The author suggests that a genetic susceptibility to seasonal changes in mood and behavior is a genetic predisposition to an insufficient adaptation to temperate and high latitudes.

Biological Evolution↗
PubMed2005

Could obsessive-compulsive disorder have originated as a group-selected adaptive trait in traditional societies?

Obsessive-compulsive disorder (OCD) possesses distinctive characteristics inviting evolutionary and anthropological explanations. A genetically based condition with low fecundity persisting through generations is paradoxical. The concept of group selection is an evolutionary principle capable of clarifying the perplexing epidemiology of OCD. Using a group-selection paradigm, the authors propose that OCD reflects an ancient form of behavioural specialization. The majority of compulsions such as checking, washing, counting, needing to confess, hoarding and requiring precision, all carry the potential to benefit society. Focussing primarily on hunting and gathering cultures, the potential evolutionary advantages of OCD are explored.

Adaptation, Biological↗
PubMed1989

Some aspects of the organization and evolution of the genetic code.

In this paper, I define a measure of the relative position of each amino acid in the genetic code by means of a 21-dimensional vector describing its potential for mutation, in a single step, to each of the other amino acids, or to a chain termination codon. This measure allows us to make a systematic investigation of the type and number of the physicochemical properties of the amino acids that were involved in evolution. The polar character and size of amino acids are identified in this analysis as properties that played a leading role in the evolutionary history of the genetic code. The application of cluster analysis and discriminant analysis reveals the characteristics of the structural organization of the genetic code. Finally, I suggest the existence of a relationship between the molecular weight of the amino acids and the number of synonymous codons.

Amino Acids↗
PubMed1982

Esterase D in Cebus apella from the Amazonian region.

Research programs involving the study of genetic variation of proteins have been carried out both in humans and catarrhine primates but rarely in New World species. Considering the great possibilities offered by protein variations as genetic markers in systematic and evolutionary studies in this group of organisms, the authors are specially interested in the investigation of genetic polymorphisms of blood proteins in Amazonian primates. In this paper we describe the electrophoretic patterns of erythrocyte esterases obtained from blood samples of 57 Cebus apella specimens. Blood hemolysates from Cebus display four main set of bands in azo-coupled stained gels. These bands are identified as esterases P, A1, A2 and B by their electrophoretic migration, substrate specificity and eserine reaction. The use of the fluorogenic reagent 4-methylumbelliferyl acetate revealed the presence of a fifth set of enzymes not detected by the azo-coupled staining method. This set of enzymes, probably a polymorphic genetic system, was named ESD as in humans.

Animals↗
PubMed2004

A Bayesian statistical analysis of human T-cell lymphotropic virus evolutionary rates.

HTLV is a genetically-stable retrovirus that is considered to have evolved partly in concert with human migrations. Its rate of evolution is low and therefore, difficult to estimate reliably. In the first part of this study, we provide an improved estimate of HTLV evolutionary rate using anthropological calibration of phylogenetic nodes. We investigate two different anthropological calibrations using a Bayesian method that implements a relaxed molecular clock model and can combine data from multiple genes. The analysis shows that the two calibrations are compatible. In the second part, we develop a Bayesian statistical model to combine and compare the anthropology-based estimates of evolutionary rate with a rate recently calculated using pedigree data from vertically HTLV-infected families. We compare the statistical power of the two estimates and show that the current pedigree estimate, although resulting in considerably higher evolutionary rates, is too statistically weak to warrant a re-examination of the commonly used anthropology-based estimates. Statistical uncertainty burdens HTLV rate estimates based on both anthropological calibrations and on pedigree data; the former method rests on an untested assumption, whilst that latter is affected by small sample sizes.

Bayes Theorem↗
PubMed1998

The deconvolution of pyrolysis mass spectra using genetic programming: application to the identification of some Eubacterium species.

Pyrolysis mass spectrometry was used to produce complex biochemical fingerprints of Eubacterium exiguum, E. infirmum, E. tardum and E. timidum. To examine the relationship between these organisms the spectra were clustered by canonical variates analysis, and four clusters, one for each species, were observed. In an earlier study we trained artificial neural networks to identify these clinical isolates successfully; however, the information used by the neural network was not accessible from this so-called 'black box' technique. To allow the deconvolution of such complex spectra (in terms of which masses were important for discrimination) it was necessary to develop a system that itself produces 'rules' that are readily comprehensible. We here exploit the evolutionary computational technique of genetic programming; this rapidly and automatically produced simple mathematical functions that were also able to classify organisms to each of the four bacterial groups correctly and unambiguously. Since the rules used only a very limited set of masses, from a search space some 50 orders of magnitude greater than the dimensionality actually necessary, visual discrimination of the organisms on the basis of these spectral masses alone was also then possible.

Artificial Intelligence↗
PubMed1997

Major histocompatibility complex gene mapping in the amphibian Xenopus implies a primordial organization.

One of the most provocative recent discoveries in immunology was the description of a genetic linkage in the major histocompatibility complex (MHC) between structurally unrelated genes whose products are involved in processing and presentation of antigens for recognition by T lymphocytes. Genes encoding MHC class I molecules, which bind and present at the cell surface proteolytic fragments of cytosolic proteins, are linked to nonhomologous genes whose products are involved in the production and subsequent transfer of such fragments into the endoplasmic reticulum. In mammals, the class I presentation and processing genes are found in different regions of the MHC. To examine the evolutionary origins of this genetic association, linkage studies were carried out with Xenopus, an amphibian last sharing an ancestor with mammals over 350 million years ago. In contrast to mammals, the single copy Xenopus class I gene is located between the class II and III regions, speculated to be in close linkage with the processing and transport genes. In addition to suggesting a primordial organization of genes involved in class I antigen presentation, these linkage studies further provide insight into the origins of the MHC class III region and the phenomenon of class I gene instability in the mammalian MHC.

Alleles↗
PubMed2001

Genetic consequences of polygyny and social structure in an Indian fruit bat, Cynopterus sphinx. II. Variance in male mating success and effective population size.

Variance in reproductive success is a primary determinant of genetically effective population size (Ne), and thus has important implications for the role of genetic drift in the evolutionary dynamics of animal taxa characterized by polygynous mating systems. Here we report the results of a study designed to test the hypothesis that polygynous mating results in significantly reduced Ne in an age-structured population. This hypothesis was tested in a natural population of a harem-forming fruit bat, Cynopterus sphinx (Chiroptera: Pteropodidae), in western India. The influence of the mating system on the ratio of variance Ne to adult census number (N) was assessed using a mathematical model designed for age-structured populations that incorporated demographic and genetic data. Male mating success was assessed by means of direct and indirect paternity analysis using 10-locus microsatellite genotypes of adults and progeny from two consecutive breeding periods (n = 431 individually marked bats). Combined results from both analyses were used to infer the effective number of male parents in each breeding period. The relative proportion of successfully reproducing males and the size distribution of paternal sibships comprising each offspring cohort revealed an extremely high within-season variance in male mating success (up to 9.2 times higher than Poisson expectation). The resultant estimate of Ne/N for the C. sphinx study population was 0.42. As a result of polygynous mating, the predicted rate of drift (1/2Ne per generation) was 17.6% higher than expected from a Poisson distribution of male mating success. However, the estimated Ne/N was well within the 0.25-0.75 range expected for age-structured populations under normal demographic conditions. The life-history schedule of C. sphinx is characterized by a disproportionately short sexual maturation period scaled to adult life span. Consequently, the influence of polygynous mating on Ne/N is mitigated by the extensive overlap of generations. In C. sphinx, turnover of breeding males between seasons ensures a broader sampling of the adult male gamete pool than expected from the variance in mating success within a single breeding period.

Animals↗
PubMed2006

Source-sink dynamics of virulence evolution.

To understand the evolution of genetic diversity within species--bacterial and others--we must dissect the first steps of genetic adaptation to novel habitats, particularly habitats that are suboptimal for sustained growth where there is strong selection for adaptive changes. Here, we present the view that bacterial human pathogens represent an excellent model for understanding the molecular mechanisms of the adaptation of a species to alternative habitats. In particular, bacterial pathogens allow us to develop analytical methods to detect genetic adaptation using an evolutionary 'source-sink' model, with which the evolution of bacterial pathogens can be seen from the angle of continuous switching between permanent (source) and transient (sink) habitats. The source-sink model provides a conceptual framework for understanding the population dynamics and molecular mechanisms of virulence evolution.

Adaptation, Biological↗
PubMed2003

Phylogeography and conservation genetics of Eld's deer (Cervus eldi).

Eld's deer (Cervus eldi) is a highly endangered cervid, distributed historically throughout much of South Asia and Indochina. We analysed variation in the mitochondrial DNA (mtDNA) control region for representatives of all three Eld's deer subspecies to gain a better understanding of the genetic population structure and evolutionary history of this species. A phylogeny of mtDNA haplotypes indicates that the critically endangered and ecologically divergent C. eldi eldi is related more closely to C. e. thamin than to C. e. siamensis, a result that is consistent with biogeographic considerations. The results also suggest a strong degree of phylogeographic structure both between subspecies and among populations within subspecies, suggesting that dispersal of individuals between populations has been very limited historically. Haplotype diversity was relatively high for two of the three subspecies (thamin and siamensis), indicating that recent population declines have not yet substantially eroded genetic diversity. In contrast, we found no haplotype variation within C. eldi eldi or the Hainan Island population of C. eldi siamensis, two populations which are known to have suffered severe population bottlenecks. We also compared levels of haplotype and nucleotide diversity in an unmanaged captive population, a managed captive population and a relatively healthy wild population. Diversity indices were higher in the latter two, suggesting the efficacy of well-designed breeding programmes for maintaining genetic diversity in captivity. Based on significant genetic differentiation among Eld's deer subspecies, we recommend the continued management of this species in three distinct evolutionarily significant units (ESUs). Where possible, it may be advisable to translocate individuals between isolated populations within a subspecies to maintain levels of genetic variation in remaining Eld's deer populations.

Animal Population Groups↗
PubMed1975

Genetic change and rates of cladogenesis.

Models are introduced which predict ratios of mean levels of genetic divergence in species-rich versus species-poor phylads under two competing assumptions: (1) genetic differentiation is a function of time, unrelated to the number of cladogenetic events and (2) genetic differentiation is proportional to the number of speciation events in the group. The models are simple, general, and biologically real, but not precise. They lead to qualitatively distinct predictions about levels of genetic divergence depending upon the relationship between rates of speciation and amount of genetic change. When genetic distance between species is a function of time, mean genetic distances in speciose and depauperate phylads of equal evolutionary age are very similar. On the contrary, when genetic distance is a function of the number of speciations in the history of a phylad, the ratio of mean genetic distances separating species in speciose versus depauperate phylads is greater than one, and increases rapidly as the frequency of speciations in one group relative to the other increases. The models may be tested with data from natural populations to assess (1) possible correlations between rates of anagenesis and cladogenesis and (2) the amount of genetic differentiation accompanying the speciation process. The data collected in electrophoretic surveys and other kinds of studies can be used to test the predictions of the models. For this purpose genetic distances need to be measured in speciose and depauperate phylads of equal evolutionary age. The limited information presently available agrees better with the model predicting that genetic change is primarily a function of time, and is not correlated with rates of speciation. Further testing of the models is, however, required before firm conclusions can be drawn.

Biological Evolution↗
PubMed1999

CRASSULACEAN ACID METABOLISM: Molecular Genetics.

Crassulacean acid metabolism (CAM) is an adaptation of photosynthesis to limited availability of water or CO2. CAM is characterized by nocturnal CO2 fixation via the cytosolic enzyme PEP carboxylase (PEPC), formation of PEP by glycolysis, malic acid accumulation in the vacuole, daytime decarboxylation of malate and CO2 re-assimilation via ribulose-1,5-bisphosphate carboxylase (RUBISCO), and regeneration of storage carbohydrates from pyruvate and/or PEP by gluconeogenesis. Within this basic framework, the pathway exhibits an extraordinary range of metabolic plasticity governed by environmental, developmental, tissue-specific, hormonal, and circadian cues. Characterization of genes encoding key CAM enzymes has shown that a combination of transcriptional, posttranscriptional, translational, and posttranslational regulatory events govern the expression of the pathway. Recently, this information has improved our ability to dissect the regulatory and signaling events that mediate the expression and operation of the pathway. Molecular analysis and sequence information have also provided new ways of assessing the evolutionary origins of CAM. Genetic and physiological analysis of transgenic plants currently under development will improve our further understanding of the molecular genetics of CAM.

Journal Article↗
PubMed1994

Effective population sizes with multiple paternity.

While the concept of effective population size is of obvious applicability to many questions in population genetics and conservation biology, its utility has suffered due to a lack of agreement among its various formulations. Often, mathematical formulations for effective sizes apply restrictive assumptions that limit their applicability. Herein, expressions for effective sizes of populations that account for mating tactics, biases in sex ratios, and differential dispersal rates (among other parameters) are developed. Of primary interest is the influence of multiple paternity on the maintenance of genetic variation in a population. In addition to the standard inbreeding and variance effective sizes, intragroup (coancestral) and intergroup effective sizes also are developed. Expressions for effective sizes are developed for the beginning of nonrandom gene exchanges (initial effective sizes), the transition of gene correlations (instantaneous effective sizes), and the steady-state (asymptotic effective size). Results indicate that systems of mating that incorporate more than one male mate per female increase all effective sizes above those expected from polygyny and monogamy. Instantaneous and asymptotic sizes can be expressed relative to the fixation indices. The parameters presented herein can be utilized in models of effective sizes for the study of evolutionary biology and conservation genetics.

Algorithms↗
PubMed2005

Variation of the Mycobacterium tuberculosis PE_PGRS 33 gene among clinical isolates.

PE_PGRS 33, one of about 60 PE_PGRS genes in the Mycobacterium tuberculosis genome, encodes a surface-expressed protein that may be involved in the antigenic variation of M. tuberculosis strains and evasion of the host immune system. While genetic differences between the PE_PGRS 33 genes of H37Rv and CDC 1551 have been noted, genetic variation in this gene among clinical isolates has not been evaluated. In order to gain a better understanding of the genetic basis for the role of PE_PGRS in antigenic variation and evasion of the host immune system, we investigated the genetic diversity of the PE_PGRS 33 gene among 123 clinical M. tuberculosis isolates from a population-based study, using PCR and DNA sequencing. The 123 isolates belonged to principal genetic groups 1, 2, and 3 and had IS 6110 copy numbers ranging from 1 to 22. Eighty-four (68.3%) of the 123 isolates were found to have at least one sequence variation in the PE_PGRS 33 gene, relative to that of H37Rv. Twenty-five different sequence variations were observed and included three insertions (ranging from 9 to 87 bp), nine deletions (ranging from 1 to 273 bp), one insertion-and-deletion event, and 12 single-nucleotide polymorphisms (six synonymous and six nonsynonymous). Analysis of the relationships among the different PE_PGRS 33 gene sequence variations suggests that polymorphisms in the gene are shifting along evolutionary lineages. The observed genetic diversity of the PE_PGRS 33 gene supports its role in antigenic variation and can serve as a basis for future investigations of the function of the PE_PGRS 33 gene among clinical isolates.

Antigens, Bacterial↗
PubMed1983

Genetic exchanges between partially homologous nucleotide sequences: possible implications for multigene families.

Many sequences, particularly in the genome of the higher eukaryotes, are reiterated several or many times, but are only partially homologous. It is commonly accepted that such sequences (for example, genes of a multigene family) may, on occasions, undergo reciprocal and non-reciprocal genetic exchanges by crossing-over or gene conversion. This relies on the implicit assumption that partially homologous sequences may pair to form heteroduplex structures. We discuss the possibility that correction of such heteroduplexes into homoduplexes may be a common genetic mechanism with significant evolutionary importance, particularly in the higher eukaryotes: it provides a basis for a novel source of point and non point mutation and a means of generating many variations in a gene sequence in a single step. We also emphasize the possible role of non coding nucleotides, particularly introns, in permitting (when conserved) or blocking (when divergent) such exchanges between members of a multigene family.

Animals↗
PubMed2006

Long-term stability and effective population size in North Sea and Baltic Sea cod (Gadus morhua).

DNA from archived otoliths was used to explore the temporal stability of the genetic composition of two cod populations, the Moray Firth (North Sea) sampled in 1965 and 2002, and the Bornholm Basin (Baltic Sea) sampled in 1928 and 1997. We found no significant changes in the allele frequencies for the Moray Firth population, while subtle but significant genetic changes over time were detected for the Bornholm Basin population. Estimates of the effective population size (Ne) generally exceeded 500 for both populations when employing a number of varieties of the temporal genetic method. However, confidence intervals were very wide and Ne's most likely range in the thousands. There was no apparent loss of genetic variability and no evidence of a genetic bottleneck for either of the populations. Calculations of the expected levels of genetic variability under different scenarios of Ne showed that the number of alleles commonly reported at microsatellite loci in Atlantic cod is best explained by Ne's exceeding thousand. Recent fishery-induced bottlenecks can, however, not be ruled out as an explanation for the apparent discrepancy between high levels of variability and recently reported estimates of Ne << 1000. From life history traits and estimates of survival rates in the wild, we evaluate the compatibility of the species' biology and extremely low Ne/N ratios. Our data suggest that very small Ne's are not likely to be of general concern for cod populations and, accordingly, most populations do not face any severe threat of losing evolutionary potential due to genetic drift.

Animals↗
PubMed2004

Distribution and characterization of staphylococcal interspersed repeat units (SIRUs) and potential use for strain differentiation.

Variable-number tandem repeats (VNTRs) have been shown to be a powerful tool in the determination of evolutionary relationships and population genetics of bacteria. The sequencing of a number of Staphylococcus aureus genomes has allowed the identification of novel VNTR sequences in S. aureus, which are similar to those used in the study of the evolution of Mycobacterium tuberculosis clades. Seven VNTRs, termed staphylococcal interspersed repeat units (SIRUs), distributed around the genome are described, occurring in both unique and multiple sites, and varying in length from 48 to 159 bp. Variations in copy numbers were observed in all loci, within both the sequenced genomes and the UK epidemic methicillin-resistant S. aureus (EMRSA) isolates. Clonally related UK EMRSA isolates were clustered using SIRUs, which provided a greater degree of discrimination than multi-locus sequence typing, indicating that VNTRs may be a more appropriate evolutionary marker for studying transmission events and the geographical spread of S. aureus clades.

Bacterial Typing Techniques↗