Multigenic polymorphism as a source of adaptively restricted population variability

Among 400 Drosophila melanogaster flies individually analysed for nine gene–enzyme systems, a total of 160 different genotypes were found: 78 were repeatedly observed in two to 22 individuals, and 82 appeared only once. An increase in the frequency of rare alleles could be observed in such groups of genotypes that were less frequent. Among 24 most frequent genotypes (in 189 individuals) only four different combinations of five third-chromosomal genes are present, and 12 different combinations of three second-chromosomal genes. Among 82 unique genotypes these combinations were much more versatile: 29 at the third, 22 at the second, and three at the first chromosomes. The proportion of heterozygotes was increasing from most frequent toward unique genotypes (1.5–2.1 ± 0.1), primarily due to heterozygosity in five third-chromosomal loci (0.4–1.1 ± 0.06). When the number of genotypes in 100, 200, 300 and 400 sampled flies was extrapolated to larger samples, it became clear that this increase has an asymptotic character. It must be assumed that for our nine-loci model a total of approximately 200–220 different genotypes may exist in a population of a few thousands individuals, which means that adaptive variation for such a complex gene–enzyme system must be very much limited.     

Cytoplasmic incompatibilities in the mosquito Culex pipiens: How to explain a cytotype polymorphism?*

Although cytoplasmic incompatibilities have been used as a means of eradicating the mosquito Culex pipiens, the population dynamics of these sterilities in relation to the coexistence of multiple incompatible cytotypes in a single area has not been investigated, except in the case of two unidirectionally incompatible cytotypes. An analytical model of the evolution of n cytotypes in an infinite panmictic population has been developed in order to investigate polymorphic equilibrium. A necessary criterion for the stability of such an equilibrium is established; it is shown that a stable polymorphism cannot exist between incompatible cytotypes. This result is discussed in the light of population dynamics and genetics of Culex pipiens, and of our present knowledge on incompatibilities. The consequences of a geographic structuring and of homogamy are considered. A careful reconsideration of previous experimental results disclosed probable nuclear effects and a serious experimental weakness: with the common procedure of backcrossing hybrid females to males of constant genotype it is not possible to rule out probable nuclear effects with paternal expression. It is concluded that incompatibilities in Culex pipiens may have a nuclear-cytoplasmic determinism.     

应用液滴数字PCR技术检测rs6983267三种多态性位点

核苷酸的多态性检测在临床以及基础生命科学研究中占据着重要地位.目前基于PCR的探针法应用最为广泛.由于在核苷酸上微小差异,探针的设计往往带有交叉活性反应,这阻碍了qPCR方法的推广.数字PCR(dPCR)是近年来已成功实现商业化的基于单分子分析的核酸检测技术.通过对条件的优化,dPCR可以消除探针的交叉活性,不过目前商业化的dPCR一般只有2个通道,对于同时检测3个多态性需要更加细致的优化.本研究以rs6983267位点的CCAT2基因3种多态性检测为例,利用探针的交叉活性反应检测其3个多态性位点.检测涉及到3个探针:2个针对多态性位点,另1个位于多态性位点外侧作为参照探针.结果表明,成功地区分了3个包含多态性位点基因片段的簇.在本研究中交叉活性反应可以为dPCR留出白空间,利于多样品的检测.     

Assessing SSU rDNA Barcodes in Foraminifera: A Case Study using Bolivina quadrata

The Small Subunit Ribosomal RNA gene (SSU rDNA) is a widely used tool to reconstruct phylogenetic relationships among foraminiferal species. Recently, the highly variable regions of this gene have been proposed as DNA barcodes to identify foraminiferal species. However, the resolution of these barcodes has not been well established, yet. In this study, we evaluate four SSU rDNA hypervariable regions (37/f, 41/f, 43/e, and 45/e) as DNA barcodes to distinguish among species of the genus Bolivina, with particular emphasis on Bolivina quadrata for which ten new sequences ( KY468817 – KY468826 ) were obtained during this study. Our analyses show that a single SSU rDNA hypervariable sequence is insufficient to resolve all Bolivina species and that some regions (37/f and 41/f) are more useful than others (43/e and 45/e) to distinguish among closely related species. In addition, polymorphism analyses reveal a high degree of variability. In the context of barcoding studies, these results emphasize the need to assess the range of intraspecific variability of DNA barcodes prior to their application to identify foraminiferal species in environmental samples; our results also highlight the possibility that a longer SSU rDNA region might be required to distinguish among species belonging to the same taxonomic group (i.e. genus).     

COMT Val158Met moderates the link between rank and aggression in a non‐human primate

The COMT Val¹⁵⁸Met polymorphism is one of the most widely studied genetic polymorphisms in humans implicated in aggression and the moderation of stressful life event effects. We screened a wild primate population for polymorphisms at the COMT Val¹⁵⁸Met site and phenotyped them for aggression to test whether the human polymorphism exists and is associated with variation in aggressive behavior. Subjects were all adults from 4 study groups (37 males, 40 females) of Assamese macaques (Macaca assamensis) in their natural habitat (Phu Khieo Wildlife Sanctuary, Thailand). We collected focal animal behavioral data (27 males, 36 females, 5964 focal hours) and fecal samples for non‐invasive DNA analysis. We identified the human COMT Val¹⁵⁸Met polymorphism (14 Met/Met, 41 Val/Met and 22 Val/Val). Preliminary results suggest that COMT genotype and dominance rank interact to influence aggression rates. Aggression rates increased with rank in Val/Val, but decreased in Met/Met and Val/Met individuals, with no significant main effect of COMT genotype on aggression. Further support for the interaction effect comes from time series analyses revealing that when changing from lower to higher rank position Val/Val individuals decreased, whereas Met/Met individuals increased their aggression rate. Contradicting the interpretation of earlier studies, we show that the widely studied Val¹⁵⁸Met polymorphism in COMT is not unique to humans and yields similar behavioral phenotypes in a non‐human primate. This study represents an important step towards understanding individual variation in aggression in a wild primate population and may inform human behavioral geneticists about the evolutionary roots of inter‐individual variation in aggression.     

Genetic contributions to precocity traits in racing Thoroughbreds

Adaptation to early training and racing (i.e. precocity), which is highly variable in racing Thoroughbreds, has implications for the selection and training of horses. We hypothesised that precocity in Thoroughbred racehorses is heritable. Age at first sprint training session (work day), age at first race and age at best race were used as phenotypes to quantify precocity. Using high‐density SNP array data, additive SNP heritability () was estimated to be 0.17, 0.14 and 0.17 for the three traits respectively. In genome‐wide association studies (GWAS) for age at first race and age at best race, a 1.98‐Mb region on equine chromosome 18 (ECA18) was identified. The most significant association was with the myostatin (MSTN) g.66493737C>T SNP (P = 5.46 × 10^?12 and P = 1.89 × 10^?14 respectively). In addition, two SNPs on ECA1 (g.37770220G>A and g.37770305T>C) within the first intron of the serotonin receptor gene HTR7 were significantly associated with age at first race and age at best race. Although no significant associations were identified for age at first work day, the MSTN:g.66493737C>T SNP was among the top 20 SNPs in the GWAS (P = 3.98 × 10^?5). Here we have identified variants with potential roles in early adaptation to training. Although there was an overlap in genes associated with precocity and distance aptitude (i.e. MSTN), the HTR7 variants were more strongly associated with precocity than with distance. Because HTR7 is closely related to the HTR1A gene, previously implicated in tractability in young Thoroughbreds, this suggests that behavioural traits may influence precocity.     

Salamander morph frequencies do not evolve as predicted in response to 40 years of climate change

The global climate is changing rapidly, yet biotic responses remain uncertain. Most studies focus on changes in species ranges or plastic responses like phenology, but adaptive evolution could be equally important. Studying evolutionary responses is challenging given limited historical data and a poor understanding of genetically variable traits under selection. We take advantage of a historical dataset to test for an adaptive response to climate change in a widespread, polymorphic amphibian, the eastern red‐backed salamander Plethodon cinereus. We resurveyed color morph frequencies across New England to test for an adaptive shift in response to climate change. We modeled historical and present‐day morph proportions as a function of climate and tested the accuracy of predictions both within and across different time periods. Our models showed moderate accuracy when predicting morph frequencies within time periods, but poor accuracy across time periods. Despite substantial changes in climate and significant relationships between morph frequency and climate variables within periods, we found no evidence for the predicted shift in morph frequencies across New England. The relationship between climate and color morph frequencies is likely more complex than originally suggested, potentially involving the interplay of additional factors such as microclimate variation, land use changes, and frequency‐dependent selection. Model extrapolation and changes in the correlation structure of climate variables also likely contributed to poor predictive ability. Evolution could provide a means to moderate the effects of climate change on many species. However, we often do not understand the direct links between climate variation, traits, and fitness. Therefore, forecasting climate‐mediated evolution remains an ongoing and important challenge for understanding climate change threats to species.