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Concept: Polymorphism


Genetic polymorphism is suggested to be associated with human physical performance. The angiotensin I-converting enzyme insertion/deletion (ACE I/D) polymorphism and the α-actinin-3 gene (ACTN3) R577X polymorphism have been most widely studied for such association analysis. However, the findings are frequently heterogeneous. We aim to summarize the associations of ACE I/D and ACTN3 R577X with sport performance by means of meta-analysis.

Concepts: Genetics, Allele, Chromosome, The Association, Polymorphism, Adaptation, Genetic polymorphism, Julian Huxley


The great majority of plant species in the tropics require animals to achieve pollination, but the exact role of floral signals in attraction of animal pollinators is often debated. Many plants provide a floral reward to attract a guild of pollinators, and it has been proposed that floral signals of non-rewarding species may converge on those of rewarding species to exploit the relationship of the latter with their pollinators. In the orchid family (Orchidaceae), pollination is almost universally animal-mediated, but a third of species provide no floral reward, which suggests that deceptive pollination mechanisms are prevalent. Here, we examine floral colour and shape convergence in Neotropical plant communities, focusing on certain food-deceptive Oncidiinae orchids (e.g. Trichocentrum ascendens and Oncidium nebulosum) and rewarding species of Malpighiaceae. We show that the species from these two distantly related families are often more similar in floral colour and shape than expected by chance and propose that a system of multifarious floral mimicry-a form of Batesian mimicry that involves multiple models and is more complex than a simple one model-one mimic system-operates in these orchids. The same mimetic pollination system has evolved at least 14 times within the species-rich Oncidiinae throughout the Neotropics. These results help explain the extraordinary diversification of Neotropical orchids and highlight the complexity of plant-animal interactions.

Concepts: Evolution, Insect, Tropics, Mimicry, Polymorphism, Batesian mimicry, Orchidaceae, Oncidium


Aim: To investigate physiological adaptation with two endurance training periods differing in intensity distribution. Methods: In a randomised cross-over fashion, separated by 4-weeks of detraining, 12 male cyclists completed two 6-week training periods: (1) a polarised model (6.4(±1.4)hrs.week(-1); 80%, 0%, 20% of training time in low, moderate and high intensity zones); and (2) a threshold model (7.5(±2.0)hrs.week(-1); 57%, 43%, 0% training intensity distribution). Before and after each training period, following 2 days of diet and exercise control, fasted skeletal muscle biopsies were obtained for mitochondrial enzyme activity and monocarboxylate transporter (MCT1/4) expression, and morning first void urine samples collected for NMR spectroscopy based metabolomics analysis. Endurance performance (40km time trial), incremental exercise, peak power output, and high-intensity exercise capacity (95% Wmax to exhaustion) were also assessed. Results: Endurance performance, peak power output, lactate threshold, MCT4, and high-intensity exercise capacity all increased over both training periods. Improvements were greater following polarised than threshold for peak power output (Mean (±SEM) change of 8(±2)% vs. 3(±1)%, P<0.05), lactate threshold (9(±3)% vs. 2(±4)%, P<0.05), and high-intensity exercise capacity (85(±14)% vs. 37(±14)%, P<0.05). No changes in mitochondrial enzyme activities or MCT1 were observed following training. A significant multi-level partial least squares-discriminant analysis model was obtained for the threshold model but not the polarised model in the metabolomics analysis. Conclusion: A polarised training distribution results in greater systemic adaptation over 6 weeks in already well-trained cyclists. Markers of muscle metabolic adaptation are largely unchanged but metabolomics markers suggest different cellular metabolic stress that requires further investigation.

Concepts: Metabolism, Enzyme, Exercise, Training, Population genetics, Polymorphism, Adaptation, High intensity training


The NAT2 genetic polymorphism determines the individual acetylator status and, consequently, the capacity to metabolize, or not, drugs and xenobiotics which are substrates of NAT2. As the nature and frequency of the NAT2 polymorphisms vary remarkably between populations of different ethnic origins, genotyping strategies used to predict the acetylation phenotype need to be adapted for each particular population regarding their genetic backgrounds at this locus. As few data on the genetic polymorphism of NAT2 are available in the Senegalese population, we performed an extensive identification of NAT2 variants in 105 healthy non-smoker Senegalese subjects by direct PCR sequencing of the coding region. Eleven previously described SNPs were identified in this Senegalese population. Upon allele analysis, the four most frequent alleles were of the NAT2*5- (35.7 %), NAT2*6- (21.0 %), NAT2*12- (16.7 %) and NAT2*14- (10.0 %) type, the remaining alleles, including the wild-type NAT2*4, having each a frequency lower than 10 %. According to the observed genotypes, 51 and 50 subjects were predicted to be of the rapid (48.6 %) and slow (47.6 %) acetylator phenotype, respectively, while four individuals (3.8 %) were considered of unknown phenotype as they carry at least one allele with a yet unknown functional effect. These baseline data would be of particular interest to set up an efficient genotyping strategy to predict the acetylation status of Senegalese patients with tuberculosis and, thus, to optimize their isoniazid treatment.

Concepts: Gene, Genetics, Genotype, Allele, Evolution, Polymorphism, Adaptation, Locus


Living in seasonally changing environments requires adaptation to seasonal cycles. Many insects use the change in day length as a reliable cue for upcoming winter and respond to shortened photoperiod through diapause. In this study, we report the clinal variation in photoperiodic diapause induction in populations of the parasitoid wasp Nasonia vitripennis collected along a latitudinal gradient in Europe. In this species, diapause occurs in the larval stage and is maternally induced. Adult Nasonia females were exposed to different photoperiodic cycles and lifetime production of diapausing offspring was scored. Females switched to the production of diapausing offspring after exposure to a threshold number of photoperiodic cycles. A latitudinal cline was found in the proportion of diapausing offspring, the switch point for diapause induction measured as the maternal age at which the female starts to produce diapausing larvae, and the critical photoperiod for diapause induction. Populations at northern latitudes show an earlier switch point, higher proportions of diapausing individuals and longer critical photoperiods. Since the photoperiodic response was measured under the same laboratory conditions, the observed differences between populations most likely reflect genetic differences in sensitivity to photoperiodic cues, resulting from local adaptation to environmental cycles. The observed variability in diapause response combined with the availability of genomic tools for N. vitripennis represent a good opportunity to further investigate the genetic basis of this adaptive trait.

Concepts: Genetics, Insect, Developmental biology, Larva, Lepidoptera, Polymorphism, Wasp, Photoperiodism


OBJECTIVE: Disordered metabolism of estrogen is believed to play a significant role in endometrial carcinogenesis. Recently, a number of studies have been conducted to identify the role of estrogen-related gene polymorphism in endometrial cancer risk, generating conflicting conclusions. This meta-analysis aimed to assess the association between genetic polymorphisms involving estrogen metabolic enzymes and endometrial cancer risk. METHODS: A systematic search of 6 databases was conducted. Fourteen studies on the association of COMT (catechol-O-methyltransferase) Val158Met, CYP1B1 Leu432Val, and CYP1B1 Asn453Ser polymorphisms with endometrial cancer risk were identified, enrolling a total of 4283 cancer cases and 7094 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the relationship. RESULTS: In CYP1B1 Leu432Val( rs1056836) analysis, the heterozygous genotype (CG) demonstrated an increased risk for endometrial cancer (Val/Leu vs Leu/Leu: pooled OR, 1.11; 95% CI, 1.01-1.23; P = 0.039; I = 10.5%; (Val/Val +Val/Leu) vs Leu/Leu: pooled OR, 1.19; 95% CI, 1.03-1.38; P = 0.017; I = 54.7%). As for CYP1B1 Asn453Ser(rs1800440) polymorphism, a decreased risk was observed in G allele compared with A allele (Ser vs Asn: pooled OR, 0.82; 95% CI, 0.72-0.94; P = 0.005; I = 0.0%), and heterozygous genotype also showed a decreased risk compared with normal genotype (Ser/Asn vs Asn/Asn: pooled OR, 0.81; 95% CI, 0.69-0.95; P = 0.011; I = 0.0%). As for COMT Val158Met (rs4680) polymorphism, the heterogeneous genotype showed a decreased risk for endometrial cancer compared with the common homogenous genotype in a fixed-effect model in Asian population (Met/Val vs Val/Val: pooled OR, 0.83; 95% CI, 0.70-0.98; P = 0.033; I = 29.2%), whereas no positive results are found in other subgroups or models. CONCLUSIONS: COMT Val158Met was seen to show a decreased risk for endometrial cancer in Asian population. CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endometrial cancer, respectively. Further large and comprehensive studies in various populations with more detailed individual data are needed to confirm our findings.

Concepts: Genetics, Genotype, Allele, Estrogen, Cytochrome P450, Endometrial cancer, Polymorphism, Genetic polymorphism


A novel surface-attached, spray-dried solid dispersion containing poorly water-soluble carvedilol (CV) without any change in the crystallinity was prepared using water, polyvinylpyrrolidone (PVP K30) and Tween 80. The solid dispersion was optimized by investigating the effects of the weight ratios of Tween 80/PVP K30 and carrier/drug on the aqueous solubility of CV. The optimum solid dispersion consisted of a relatively low carrier to drug weight ratio: the weight ratio of CV/PVP K30/Tween 80 was 12/4/2. Unlike conventional methods of solid dispersion preparation, this method yielded CV-loaded solid dispersion with no change in the crystallinity of the drug as was evident from SEM, DSC and XRD. It was demonstrated that the solid dispersions prepared had hydrophilic carriers attached to the surface of the drug, thus changing it from a hydrophobic to a hydrophilic form without changing the crystalline form. The optimized solid dispersion improved the drug solubility and dissolution rate by about 11,500-fold and twofold, respectively. It was further suggested that this method of solid dispersion preparation is better than conventional methods in terms of environmental and industrial standpoints. Thus, it was concluded that CV-loaded solid dispersion prepared using this method would be of use for delivering poorly water-soluble CV with enhanced solubility and dissolution, but without crystalline changes.

Concepts: Crystal, Chemistry, Solubility, Solid, Change, Hydrophile, Solvation, Polymorphism


Red Queen host-parasite co-evolution can drive adaptations of immune genes by positive selection that erodes genetic variation (Red Queen arms race) or results in a balanced polymorphism (Red Queen dynamics) and long-term preservation of genetic variation (trans-species polymorphism). These two Red Queen processes are opposite extremes of the co-evolutionary spectrum. Here we show that both Red Queen processes can operate simultaneously by analysing the major histocompatibility complex (MHC) in guppies (Poecilia reticulata and P. obscura) and swamp guppies (Micropoecilia picta). Sub-functionalisation of MHC alleles into ‘supertypes’ explains how polymorphisms persist during rapid host-parasite co-evolution. Simulations show the maintenance of supertypes as balanced polymorphisms, consistent with Red Queen dynamics, whereas alleles within supertypes are subject to positive selection in a Red Queen arms race. Building on the divergent allele advantage hypothesis, we show that functional aspects of allelic diversity help to elucidate the evolution of polymorphic genes involved in Red Queen co-evolution.

Concepts: Immune system, Gene, Genetics, Natural selection, Allele, Evolution, Major histocompatibility complex, Polymorphism


Precise replacement of an existing allele in commercial cultivars with an elite allele is a major goal in crop breeding. A single nucleotide polymorphism in NRT1.1B gene between japonica and indica rice is responsible for the improved nitrogen use efficiency in indica rice. Herein, we precisely replaced the japonica NRT1.1B allele with the indica allele in just one generation using CRISPR/Cas9 gene editing technology. No additional selective pressure was needed to enrich the precise replacement events. This work demonstrates the feasibility of replacing any genes with elite alleles within one generation, greatly expanding our ability to improve agriculturally important traits.

Concepts: DNA, Gene, Genetics, Genotype, Allele, Molecular biology, Genetic genealogy, Polymorphism


Supergene mimicry is a striking phenomenon but we know little about the evolution of this trait in any species. Here, by studying genomes of butterflies from a recent radiation in which supergene mimicry has been isolated to the gene doublesex, we show that sexually dimorphic mimicry and female-limited polymorphism are evolutionarily related as a result of ancient balancing selection combined with independent origins of similar morphs in different lineages and secondary loss of polymorphism in other lineages. Evolutionary loss of polymorphism appears to have resulted from an interaction between natural selection and genetic drift. Furthermore, molecular evolution of the supergene is dominated not by adaptive protein evolution or balancing selection, but by extensive hitchhiking of linked variants on the mimetic dsx haplotype that occurred at the origin of mimicry. Our results suggest that chance events have played important and possibly opposing roles throughout the history of this classic example of adaptation.

Concepts: Genetics, Natural selection, Evolution, Population genetics, Polymorphism, Adaptation, Balancing selection, Neutral theory of molecular evolution