[The sceno-test of G.V. Staabs used in syndromes caused by adaptation disorders in the evolutive age].
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Theoretical models suggest that population structure can interact with frequency dependent selection to affect fitness in such a way that adaptation is dependent not only on the genotype of an individual and the genotypes with which it co-occurs within populations (demes), but also the distribution of genotypes among populations. A canonical example is the evolution of altruistic behavior, where the costs and benefits of cooperation depend on the local frequency of other altruists, and can vary from one population to another. Here we review research on sex ratio evolution that we have conducted over the past several years on the gynodioecious herb Silene vulgaris in which we combine studies of negative frequency dependent fitness on female phenotypes with studies of the population structure of cytoplasmic genes affecting sex expression. This is presented as a contrast to a hypothetical example of selection on similar genotypes and phenotypes, but in the absence of population structure. Sex ratio evolution in Silene vulgaris provides one of the clearest examples of how selection occurs at multiple levels and how population structure, per se, can influence adaptive evolution.
Molecular evolution is moving from statistical descriptions of adaptive molecular changes toward predicting the fitness effects of mutations. Here, we characterize the fitness landscape of the six amino acids controlling coenzyme use in isopropylmalate dehydrogenase (IMDH). Although all natural IMDHs use nicotinamide adenine dinucleotide (NAD) as a coenzyme, they can be engineered to use nicotinamide adenine dinucleotide phosphate (NADP) instead. Intermediates between these two phenotypic extremes show that each amino acid contributes additively to enzyme function, with epistatic contributions confined to fitness. The genotype-phenotype-fitness map shows that NAD use is a global optimum.
The evolution of pesticide resistance provides some of the most striking examples of darwinian evolution occurring over a human life span. Identification of resistance alleles opens an outstanding framework in which to study the evolution of adaptive mutations from the beginning of pesticide application, the evolution of interactions between alleles (dominance) or between loci (epistasis). Here we show that resistance alleles can also be used as markers to dissect population processes at a microevolutionary scale. We have focused on the antagonistic roles of selection and migration involved in the dynamics of local adaptation with reference to allelic frequencies at two resistance loci in the mosquito Culex pipiens. We find that their frequencies follow an annual cycle of large amplitude (25%), and we precisely unravel the seasonal variation of migration and selection underlying this cycle. Our results provide a firm basis on which to devise an insecticide treatment strategy that will better control the evolution of resistance genes and the growth of mosquito populations.
AIMS: The aims of the study was to evaluate if environmental factors can influence the effectiveness of therapeutic intervention of subjects with intellectual disabilities. METHODS: 46 adolescents and adults with mental retardation, in semi-residential rehabilitative treatment, have been assessed over a 2-years period. The evolution of adaptive functioning over time has been assessed through the AAMD-ABS. The development of the adaptive skills at follow-up has been correlated with socio-economic and cultural factors. RESULTS: Linear regression showed that age of both parents, mother's health status, lack of one parent, SES, and housing conditions, represent significant covariates to predicting evolution of the adaptive functioning; these factors independently influence effectiveness of the therapy from the kind of treatment. CONCLUSION: The results demonstrate that effectiveness of the therapy can be conditioned from ability to fulfil the needs of the families, through social and supporting programs.
Small leaves and low specific leaf area (SLA) have long been viewed as adaptations to Mediterranean-type climates in many species of evergreen woody plants. However, paleobotanical and floristic evidence suggests that in many cases these traits originated prior to the advent of the summer-drought climate regime. In this study, molecular phylogenies and ancestral state reconstructions were used to test the hypothesis of adaptive leaf evolution in 12 lineages of evergreen shrubs in the California chaparral. Across all lineages there was a small but significant shift toward lower SLA, but there were no trends in leaf size evolution. For individual lineages, adaptive changes were detected in only three cases for SLA and in one case for leaf size. Three of these cases of evolutionary change were observed in taxa derived from cool temperate ancestors (e.g., Heteromeles). In contrast, most lineages originating from subtropical ancestors exhibited relative stasis in leaf trait evolution (e.g., Ceanothus). The absence of change suggests that ancestors of chaparral taxa had already acquired appropriate traits that contributed to their success under Mediterranean-type climates. These results illustrate how biogeographic history may influence patterns of trait evolution and adaptation and highlight the contribution of ecological sorting processes to the assembly and functional ecology of regional biotas.
The olfactory receptor (OR) genes constitute the molecular basis of fish olfaction, mediating survival behaviors and environmental adaptation while coevolving with habitat-driven evolution. Schizothorax, a cyprinid genus endemic to the Qinghai-Tibetan Plateau, exhibits remarkable dietary divergence and ploidy variation in response to plateau environmental changes, which presumably facilitates the adaptive evolution of OR genes. However, the evolutionary patterns of OR genes associated with trophic divergence and ploidy variation in this genus remain unclear. In this study, three species were selected: the herbivorous diploid S. macropogon, the carnivorous diploid S. lantsangensis, and the herbivorous tetraploid S. curvilabiatus. S. macropogon possessed 142 OR genes (92.25% functional), primarily located on chromosomes 14 and 24, with the fewest sequence clusters. Such compact gene repertoire and highly overlapping chromosomal clusters indicated specialization for a herbivorous olfactory niche. S. lantsangensis contained 127 OR genes (93.70% functional), concentrated on chromosomes 4 and 5, with fewer sequence clusters and a scattered distribution, reflecting evolution of OR genes under carnivorous feeding habits. The herbivorous tetraploid S. curvilabiatus exhibited striking features: 316 OR genes (94.30% functional), the most subfamilies, unique ε and κ OR subfamilies, and species-specific motifs. These characteristics revealed that ploidy, rather than herbivory, dominated OR gene evolution. In conclusion, dietary differentiation and ploidy variation together drove olfactory adaptive evolution in Schizothorax, providing new insights into vertebrate OR gene ecological adaptation.
Recombination generates new combinations of existing genetic variation and therefore may be important in adaptation and evolution. We investigated whether there was natural genetic variation for recombination frequencies and whether any such variation was environment related and possibly adaptive. Crossing over and gene conversion frequencies often differed significantly in a consistent direction between wild strains of the fungus Sordaria fimicola isolated from a harsher or a milder microscale environment in "Evolution Canyon," Israel. First- and second-generation descendants from selfing the original strains from the harsher, more variable, south-facing slope had higher frequencies of crossing over in locus-centromere intervals and of gene conversion than those from the lusher north-facing slopes. There were some significant differences between strains within slopes, but these were less marked than between slopes. Such inherited variation could provide a basis for natural selection for optimum recombination frequencies in each environment. There were no significant differences in meiotic hybrid DNA correction frequencies between strains from the different slopes. The conversion analysis was made using only conversions to wild type, because estimations of conversion to mutant were affected by a high frequency of spontaneous mutation. There was no polarized segregation of chromosomes at meiosis I or of chromatids at meiosis II.
Butterflies in the South American genus Heliconius have undergone a spectacular adaptive radiation (with convergent evolution between some lines) in their color patterns; this has been produced by natural selection for muellerian mimicry. The genetic basis of this radiation, shown by crossing highly differentiated races within two of the species, is homozygosity for alternative alleles at some half dozen loci. In complete contrast, allozyme loci in these butterflies are strongly heterozygous and show only frequency differences (never amounting to homozygosity of alternative alleles) between races; the amount of allozyme divergence is the same between races of H. erato and H. sara, although in color pattern the first forms marked races and the other does not. For the allozymes, there is a strong correlation over loci for rate of divergence between species and average heterozygosity. This is not true of the genes controlling color pattern. Heterozygosity of the enzymes is correlated with subunit molecular weight. Thus, different parts of the genome can evolve in different ways simultaneously; genes controlling color pattern in the "classical" mode, and allozymes in a different mode in which the rate of evolution is related to their heterozygosity (a "balance" or "neutral" mode).
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Cryptic genes are phenotypically silent DNA sequences, not normally expressed during the life cycle of an individual. They may, however, be activated in a few individuals of a large population by mutation, recombination, insertion elements, or other genetic mechanisms. A consideration of the microbial literature concerning biochemical evolution, physiology, and taxonomy provides the basis for a hypothesis of microbial adaptation and evolution by mutational activation of cryptic genes. Evidence is presented, and a mathematical model is derived, indicating that powerful and biologically important mechanisms exist to prevent the loss of cryptic genes. We propose that cryptic genes persist as a vital element of the genetic repertoire, ready for recall by mutational activation in future generations. Cryptic genes provide a versatile endogenous genetic reservoir that enhances the adaptive potential of a species by a mechanism that is independent of genetic exchange.
The Qinghai-Tibet Plateau, characterized by its extreme environmental conditions, presents significant challenges to life, making it an ideal region for studying adaptation and evolution. Tibetan pigs, known for their high genetic diversity and exceptional adaptability to high altitudes, serve as excellent models for investigating high-altitude adaptation. While previous studies have extensively identified genetic determinants associated with high-altitude adaptation, the molecular mechanisms, particularly cis-regulatory patterns, remain poorly understood. Here, we conducted a selective sweep analysis using 484 genomes from Chinese and Western pig breeds across various altitudes, revealing 38.56 Mb of genomic regions under selection in Tibetan pigs. Enrichment analysis identified the lung as the primary functional tissue involved in high-altitude adaptation, supported by tissue-specific transcriptional and regulatory patterns observed between Tibetan and Meishan pigs (low altitude). By integrating genomic, RNA-seq, ATAC-seq, and H3K27ac HiChIP data, we constructed comprehensive enhancer-promoter regulatory maps of candidate genes and pinpointed promising genetic determinants associated with high-altitude adaptation, including SNPs in EPAS1, KLF13, SPRED1, and CFD. These loci were predicted to influence chromatin accessibility and the interactions of regulatory elements, with altered binding strength of relevant transcription factors. Further in vitro experiments confirmed that these loci function as allele-specific enhancers, modulating the expression of target genes. Our findings elucidate the regulatory basis of high-altitude adaptation in Tibetan pigs and provide valuable insights for exploring hypoxia-related diseases in livestock and humans.
The wealth of information on the genetics of pigmentation and the clear fitness consequences of many pigmentation phenotypes provide an opportunity to study the molecular basis of an ecologically important trait. The melanocortin-1 receptor (Mc1r) is responsible for intraspecific color variation in mammals and birds. Here, we study the molecular evolution of Mc1r and investigate its role in adaptive intraspecific color differences in reptiles. We sequenced the complete Mc1r locus in seven phylogenetically diverse squamate species with melanic or blanched forms associated with different colored substrates or thermal environments. We found that patterns of amino acid substitution across different regions of the receptor are similar to the patterns seen in mammals, suggesting comparable levels of constraint and probably a conserved function for Mc1r in mammals and reptiles. We also found high levels of silent-site heterozygosity in all species, consistent with a high mutation rate or large long-term effective population size. Mc1r polymorphisms were strongly associated with color differences in Holbrookia maculata and Aspidoscelis inornata. In A. inornata, several observations suggest that Mc1r mutations may contribute to differences in color: (1) a strong association is observed between one Mc1r amino acid substitution and dorsal color; (2) no significant population structure was detected among individuals from these populations at the mitochondrial ND4 gene; (3) the distribution of allele frequencies at Mc1r deviates from neutral expectations; and (4) patterns of linkage disequilibrium at Mc1r are consistent with recent selection. This study provides comparative data on a nuclear gene in reptiles and highlights the utility of a candidate-gene approach for understanding the evolution of genes involved in vertebrate adaptation.
Plants shaded by neighbors or overhead foliage experience both a reduction in the ratio of red to far red light (R:FR), a specific cue perceived by phytochrome, and reduced photosynthetically active radiation (PAR), an essential resource. We tested the adaptive value of plasticity to crowding and to the cue and resource components of foliage shade in the annual plant Arabidopsis thaliana by exposing 36 inbred families from four natural populations to four experimental treatments: (1) high density, full sun; (2) low density, full sun; (3) low density, neutral shade; and (4) low density, low R:FR-simulated foliage shade. Genotypic selection analysis within each treatment revealed strong environmental differences in selection on plastic life-history traits. We used specific contrasts to measure plasticity to density and foliage shade, to partition responses to foliage shade into phytochrome-mediated responses to the R:FR cue and responses to PAR, and to test whether plasticity was adaptive (i.e., in the same direction as selection in each environment). Contrary to expectation, we found no evidence for adaptive plasticity to density. However, we observed both adaptive and maladaptive responses to foliage shade. In general, phytochrome-mediated plasticity to the R:FR cue of foliage shade was adaptive and counteracted maladaptive growth responses to reduced PAR. These results support the prediction that active developmental responses to environmental cues are more likely to be adaptive than are passive resource-mediated responses. Multiple regression analysis detected a few costs of adaptive plasticity and adaptive homeostasis, but such costs were infrequent and their expression depended on the environment. Thus, costs of plasticity may occasionally constrain the evolution of adaptive responses to foliage shade in Arabidopsis, but this constraint may differ among environments and is far from ubiquitous.
We have taken advantage of parallel instances of natural selection on body size in Drosophila melanogaster to investigate constraints and adaptation affecting wing shape. Using recently developed techniques for statistical shape analysis, we have examined variation in wing shape in similar body size clines on three continents. Gender-related shape differences were constant among all populations, suggesting that gender differences represent a developmental constraint on wing shape. In contrast, the underlying shape varied significantly between continents and shape change within each cline (i.e., between small and large body size populations) also varied between continents. Therefore, variation at these two levels presumably results from either drift or natural selection. Functional considerations suggest that shape variation between the continents is unlikely to be adaptive. However, cline-related shape change, which we show has a significant allometric component, may be adaptive. The overall range of wing shape variation, across a large range of wing size, is extremely small, and the possibility that wing shape is subject to stabilizing selection (or canalization) is discussed.
The population genetic basis for adaptation has remained obscure despite a longstanding body of theory. Microbial selection experiments are beginning to provide some answers.
Species in ecologically similar habitats often display patterns of divergence that are strikingly comparable, suggesting that natural selection can lead to predictable evolutionary change in communities. However, the relative importance of selection as an agent mediating in situ diversification, versus dispersal between habitats, cannot be addressed without knowledge of phylogenetic history. We used an adaptive radiation of spiders within the Hawaiian Islands to test the prediction that species of spiders on different islands would independently evolve webs with similar architectures. Tetragnatha spiders are the only nocturnal orb-weaving spiders endemic to the Hawaiian archipelago, and multiple species of orb-weaving Tetragnatha co-occur within mesic and wet forest habitats on each of the main islands. Therefore, comparison of web architectures spun by spiders on different islands allowed study of replicated evolutionary events of past behavioral diversification. We found that species within each island construct webs with architectures that differ from one another. However, pairs of species on different islands, "ethotypes," share remarkable similarities in web architectures. Phylogenetic analysis demonstrated that the species comprising these ethotypes evolved independent of one another. Our study illustrates the high degree of predictability that can be exhibited by the evolutionary diversification of complex behaviors. However, not all web architectures were shared between islands, demonstrating that unique effects also have played an important role in the historical diversification of behavior.