Levels of genetic polymorphism: marker loci versus quantitative traits.

Species are the units used to measure ecological diversity and alleles are the units of genetic diversity. Genetic variation within and among species has been documented most extensively using allozyme electrophoresis. This reveals wide differences in genetic variability within, and genetic distances among, species, demonstrating that species are not equivalent units of diversity. The extent to which the pattern observed for allozymes can be used to infer patterns of genetic variation in quantitative traits depends on the forces generating and maintaining variability. Allozyme variation is probably not strictly neutral but, nevertheless, heterozygosity is expected to be influenced by population size and genetic distance will be affected by time since divergence. The same is true for quantitative traits influenced by many genes and under weak stabilizing selection. However, the limited data available suggest that allozyme variability is a poor predictor of genetic variation in quantitative traits within populations. It is a better predictor of general phenotypic divergence and of postzygotic isolation between populations or species, but is only weakly correlated with prezygotic isolation. Studies of grasshopper and planthopper mating signal variation and assortative mating illustrate how these characters evolve independently of general genetic and morphological variation. The role of such traits in prezygotic isolation, and hence speciation, means that they will contribute significantly to the diversity of levels of genetic variation within and among species.     

2. Exploration: methods and problems of exploration and field collecting

There has been a concerted world effort to explore, collect and conserve the genetic diversity of our crops and their wild relatives. To attain these objectives carefully planned expeditions are needed. The collecting team, the route and the timing of an expedition are discussed here. In particular, the collecting strategy, based on population sampling, the nature of the material, whether seeds (orthodox or recalcitrant) or vegetative material, and methods of storage during the expedition, arc of exceptional importance. Documentation of samples is also of particular importance as part of the overall strategy in germplasm exploration.     

遗传多样性的取样策略

合理取样是生物多样性有效保护、利用和研究所面临的最基本问题 ,它在很大程度上受到植物自身的生物学特性、环境条件和取样目的的影响。遗传多样性的取样策略是指对一定地理分布范围内的生物个体取样时 ,使样本具有代表性和包含尽可能多的遗传变异的最佳取样方法 ,包括了取样数目 (一个给定区域的居群数和一个居群的个体数 )以及取样方式。包括“哈迪 温伯格平衡 (Hardy WeinbergEquilibrium)”定律在内的居群遗传学基本原理是研究取样策略的理论基础 ,在此基础上可以对居群内的取样个体数及应获取的居群数进行理论计算 ,同时还可以根据物种居群的遗传结构特点和环境条件的异质性来决定取样的方式。因此 ,应该依据研究对象本身的特点和取样的目的来确定某一特定区域的居群取样数 ,以及某一居群内的样本数及取样方式。     

中国芒(Miscanthus sinensis)初级核心种质的构建

以555份芒(Miscanthus sinensis)种质资源为研究对象,根据26个表型性状数据,按地理来源、植物区系和单一性状进行分组,分别采用简单比例法、平方根法和多样性指数法确定组内取样数,再根据聚类和随机2种方法进行组内个体选择。依照上述方案共构建出19个具有代表性的芒初选核心种质样本库。通过平均相似系数、性状符合度、数量性状变异系数和遗传多样性指数等4项检测指标对上述19种构建方案进行比较,最终确定了按"植物区划分组+多样性指数确定取样数+聚类选择个体"为芒初级核心种质构建的最佳方案。通过此方法建立起的芒初级核心种质资源共83份,占总资源的14.95%,且新构建的初级种质资源与总资源性状符合度达到100%。     

Inbreeding depression and genetic load of sexually selected traits: how the guppy lost its spots

To date, few studies have investigated the effects of inbreeding on sexually selected traits, although inbreeding depression on such traits can play an important role in the evolution and ecology of wild populations. Sexually selected traits such as ornamentation and courtship behaviour may not be primary fitness characters, but selection and dominance coefficients of their mutations will resemble those of traits under natural selection. Strong directional selection, for instance, through female mate-choice, purges all but the most recessive deleterious mutations, and the remaining dominance variation will result in inbreeding depression once populations undergo bottlenecks. We analysed the effects of inbreeding on sexually selected traits (colour pattern and courtship behaviour) in the male guppy, Poecilia reticulata, from Trinidad, and found a significant decline in the frequency of mating behaviour and colour spots. Such effects occurred although the genetic basis of these traits, many of which are Y-linked and hemizygous, would be expected to leave relatively little scope for inbreeding depression. Findings suggest that these sexually selected traits could reflect the genetic condition or health of males, and thus may be informative mate-cue characters for female choice as suggested by the 'good genes' model.     

小麦族中间鹅观草不同居群的形态多样性分析

小麦族（Triticeae）植物的野外调查、收集通常是以形态学为依据的。为了探讨小麦族植物在野外调查、收集的科学取样策略,本项研究以小麦族具有自花授粉习性的3个中间鹅观草（Roegneria sinica．vat．media Keng）居群、每个居群30个单株为材料,对11个形态学性状的多样性进行了分析。结果表明,3个居群的总遗传多样性指数为1．991,遗传多样性主要集中于居群内（91．76％）,而居群间的遗传变异（8．24％）相对较小;不同取样梯度下的遗传多样性指数随单株取样数目的增加呈现增大趋势,但当取样数目达到18株时,遗传多样性指数达到最高值。上述结果说明,对于小麦族自花授粉植物野外调查、收集时,应以居群为单位,而且每一居群至少应调查、收集18个单株,才能代表居群的遗传多样性。以形态学为依据的取样策略的建立,对于指导野外调查、收集具有现实意义。     

Effects of cytoplasmic genes on sperm viability and sperm morphology in a seed beetle: implications for sperm competition theory?

Sperm competition theory predicts that sperm traits influencing male fertilizing ability will evolve adaptively. However, it has been suggested that some sperm traits may be at least partly encoded by mitochondrial genes. If true, this may constrain the adaptive evolution of such traits because mitochondrial DNA (mtDNA) is maternally inherited and there is thus no selection on mtDNA in males. Phenotypic variation in such traits may nevertheless be high because mutations in mtDNA that have deleterious effects on male traits, but neutral or beneficial effects in females, may be maintained by random processes or selection in females. We used backcrossing to create introgression lines of seed beetles (Callosobruchus maculatus), carrying orthogonal combinations of distinct lineages of cytoplasmic and nuclear genes, and then assayed sperm viability and sperm length in all lines. We found sizeable cytoplasmic effects on both sperm traits and our analyses also suggested that the cytoplasmic effects varied across nuclear genetic backgrounds. We discuss some potential implications of these findings for sperm competition theory.     

Converging phenomics and genomics to study natural variation in plant photosynthetic efficiency

In recent years developments in plant phenomic approaches and facilities have gradually caught up with genomic approaches. An opportunity lies ahead to dissect complex, quantitative traits when both genotype and phenotype can be assessed at a high level of detail. This is especially true for the study of natural variation in photosynthetic efficiency, for which forward genetics studies have yielded only a little progress in our understanding of the genetic layout of the trait. High‐throughput phenotyping, primarily from chlorophyll fluorescence imaging, should help to dissect the genetics of photosynthesis at the different levels of both plant physiology and development. Specific emphasis should be directed towards understanding the acclimation of the photosynthetic machinery in fluctuating environments, which may be crucial for the identification of genetic variation for relevant traits in food crops. Facilities should preferably be designed to accommodate phenotyping of photosynthesis‐related traits in such environments. The use of forward genetics to study the genetic architecture of photosynthesis is likely to lead to the discovery of novel traits and/or genes that may be targeted in breeding or bio‐engineering approaches to improve crop photosynthetic efficiency. In the near future, big data approaches will play a pivotal role in data processing and streamlining the phenotype‐to‐gene identification pipeline.     

非损伤性取样研究进展

非损伤性取样即在不捕获、触及,甚至是未亲眼见到动物的情况下,收集不同形式的样品获取样品中的DNA。通过介绍各种类型非损伤性取样的研究进展,就该取样存在的问题及现有解决方法进行讨论,并在此基础上对非损伤性取样的研究和应用前景进行了分析,以期对进一步研究提供有价值的参考。     

GENOTYPE-ENVIRONMENT INTERACTION AND THE EVOLUTION OF PHENOTYPIC PLASTICITY

Studies of spatial variation in the environment have primarily focused on how genetic variation can be maintained. Many one-locus genetic models have addressed this issue, but, for several reasons, these models are not directly applicable to quantitative (polygenic) traits. One reason is that for continuously varying characters, the evolution of the mean phenotype expressed in different environments (the norm of reaction) is also of interest. Our quantitative genetic models describe the evolution of phenotypic response to the environment, also known as phenotypic plasticity (Gause, 1947), and illustrate how the norm of reaction (Schmalhausen, 1949) can be shaped by selection. These models utilize the statistical relationship which exists between genotype-environment interaction and genetic correlation to describe evolution of the mean phenotype under soft and hard selection in coarse-grained environments. Just as genetic correlations among characters within a single environment can constrain the response to simultaneous selection, so can a genetic correlation between states of a character which are expressed in two environments. Unless the genetic correlation across environments is ± 1, polygenic variation is exhausted, or there is a cost to plasticity, panmictic populations under a bivariate fitness function will eventually attain the optimum mean phenotype for a given character in each environment. However, very high positive or negative correlations can substantially slow the rate of evolution and may produce temporary maladaptation in one environment before the optimum joint phenotype is finally attained. Evolutionary trajectories under hard and soft selection can differ: in hard selection, the environments with the highest initial mean fitness contribute most individuals to the mating pool. In both hard and soft selection, evolution toward the optimum in a rare environment is much slower than it is in a common one. A subdivided population model reveals that migration restriction can facilitate local adaptation. However, unless there is no migration or one of the special cases discussed for panmictic populations holds, no geographical variation in the norm of reaction will be maintained at equilibrium. Implications of these results for the interpretation of spatial patterns of phenotypic variation in natural populations are discussed.     

THE COADAPTATION OF PARENTAL AND OFFSPRING CHARACTERS

Parents often have important influences on their offspring's traits and/or fitness (i.e., maternal or paternal effects). When offspring fitness is determined by the joint influences of offspring and parental traits, selection may favor particular combinations that generate high offspring fitness. We show that this epistasis for fitness between the parental and offspring genotypes can result in the evolution of their joint distribution, generating genetic correlations between the parental and offspring characters. This phenomenon can be viewed as a coadaptive process in which offspring genotypes evolve to function with the parentally provided environment and, in turn, the genes for this environment become associated with specific offspring genes adapted to it. To illustrate this point, we present two scenarios in which selection on offspring alone alters the correlation between a maternal and an offspring character. We use a quantitative genetic maternal effect model combined with a simple quadratic model of fitness to examine changes in the linkage disequilibrium between the maternal and offspring genotypes. In the first scenario, stabilizing selection on a maternally affected offspring character results in a genetic correlation that is opposite in sign to the maternal effect. In the second scenario, directional selection on an offspring trait that shows a nonadditive maternal effect can result in selection for positive covariances between the traits. This form of selection also results in increased genetic variation in maternal and offspring characters, and may, in the extreme case, promote host-race formation or speciation. This model provides a possible evolutionary explanation for the ubiquity of large genetic correlations between maternal and offspring traits, and suggests that this pattern of coinheritance may reflect functional relationships between these characters (i.e., functional integration).     

月季F1代群体表型性状变异分析

以月季（Rosa spp.）品种‘云蒸霞蔚’和‘太阳城’正交获得的184株F₁代群体为研究对象,采用方差分析、变异系数、遗传分析、相关性分析对花部形态性状以及叶片形态性状进行测定分析。结果表明：该杂交群体表型变异丰富,变异系数在7.33%~68.08%,其中花瓣数量在群体中的变异程度最高;杂交后代各个性状上均发生分离变异,出现不同于亲本的表现型,且离散程度较高。表型性状的遗传特点与关联分析,为挖掘控制表型性状的优良基因及辅助选择育种提供参考。     

A bivariate quantitative genetic model for a threshold trait and a survival trait

Many of the functional traits considered in animal breeding can be analyzed as threshold traits or survival traits with examples including disease traits, conformation scores, calving difficulty and longevity. In this paper we derive and implement a bivariate quantitative genetic model for a threshold character and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted in which model parameters were augmented with unobserved liabilities associated with the threshold trait. The fully conditional posterior distributions associated with parameters of the threshold trait reduced to well known distributions. For the survival trait the two baseline Weibull parameters were updated jointly by a Metropolis-Hastings step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. The Gibbs sampler was tested in a simulation study and illustrated in a joint analysis of calving difficulty and longevity of dairy cattle. The simulation study showed that the estimated marginal posterior distributions covered well and placed high density to the true values used in the simulation of data. The data analysis of calving difficulty and longevity showed that genetic variation exists for both traits. The additive genetic correlation was moderately favorable with marginal posterior mean equal to 0.37 and 95% central posterior credibility interval ranging between 0.11 and 0.61. Therefore, this study suggests that selection for improving one of the two traits will be beneficial for the other trait as well.     

The evolution of indicator traits for parental quality: the role of maternal and paternal effects

In systems where individuals provide material resources to their mates or offspring, mate choice based on traits that are phenotypically correlated with the quality of resources provided is expected to be adaptive. Several models have explored the evolution of mating preference where there are direct benefits to choice, but few have addressed how a phenotypic correlation can be established between a male indicator trait and the degree of parental investment. We present a model with three quantitative traits: male and female parental investment and a potential male indicator trait. In our model, the expression of the "indicator" trait in offspring is affected by parental investment. These effects are referred to as maternal or paternal effects, or as "indirect genetic effects" when parental investment is heritable. With genetic variation for degree of parental investment, offspring harbor genes for parental investment that are unexpressed before mating but will affect the investment that they provide when expressed. Because the investment received from the parents affects the expression of the indicator trait, there will be a correlation between the genes for parental investment inherited and the degree of expression of the indicator trait in the offspring. The indicator trait is thus an "honest" signal for the degree of paternal investment.     

Optimizing sampling design and sequencing strategy for the genomic analysis of quantitative traits in natural populations

Mapping the genes underlying ecologically relevant traits in natural populations is fundamental to develop a molecular understanding of species adaptation. Current sequencing technologies enable the characterization of a species’ genetic diversity across the landscape or even over its whole range. The relevant capture of the genetic diversity across the landscape is critical for a successful genetic mapping of traits and there are no clear guidelines on how to achieve an optimal sampling and which sequencing strategy to implement. Here we determine, through simulation, the sampling scheme that maximizes the power to map the genetic basis of a complex trait in an outbreeding species across an idealized landscape and draw genomic predictions for the trait, comparing individual and pool sequencing strategies. Our results show that quantitative trait locus detection power and prediction accuracy are higher when more populations over the landscape are sampled and this is more cost-effectively done with pool sequencing than with individual sequencing. Additionally, we recommend sampling populations from areas of high genetic diversity. As progress in sequencing enables the integration of trait-based functional ecology into landscape genomics studies, these findings will guide study designs allowing direct measures of genetic effects in natural populations across the environment.     

Moose body mass variation revisited: disentangling effects of environmental conditions and genetics

Large-scale geographical variation in phenotypic traits within species is often correlated to local environmental conditions and population density. Such phenotypic variation has recently been shown to also be influenced by genetic structuring of populations. In ungulates, large-scale geographical variation in phenotypic traits, such as body mass, has been related to environmental conditions and population density, but little is known about the genetic influences. Research on the genetic structure of moose suggests two distinct genetic lineages in Norway, structured along a north-south gradient. This corresponds with many environmental gradients, thus genetic structuring provides an additional factor affecting geographical phenotypic variation in Norwegian moose. We investigated if genetic structure explained geographical variation in body mass in Norwegian moose while accounting for environmental conditions, age and sex, and if it captured some of the variance in body mass that previously was attributed to environmental factors. Genetic structuring of moose was the most important variable in explaining the geographic variation in body mass within age and sex classes. Several environmental variables also had strong explanatory power, related to habitat diversity, environmental seasonality and winter harshness. The results suggest that environmental conditions, landscape characteristics, and genetic structure should be evaluated together when explaining large-scale patterns in phenotypic characters or life history traits. However, to better understand the role of genetic and environmental effects on phenotypic traits in moose, an extended individual-based study of variation in fitness-related characters is needed, preferably in an area of convergence between different genetic lineages.     

Quantitative genetic variation in a population of Crepis tectorum subsp. pumila (Asteraceae)

Quantitative genetic variation was assessed in a population of Crepis tectorum subsp. pumila , a winter annual confined to calcareous grassland on the Baltic island of öland (SE Sweden). Plants from 40 maternal sibships were grown in a greenhouse and scored for a large number of traits representing all stages of the life cycle. The study included several characters that have been subject to ecotypic differentiation as well as traits known to be under current selection. Highly significant family differences were found for all but one character, suggesting that past selection was too weak to eliminate the genetic variability of characters presumed to be adaptive and there is a potential for further adaptive change in most traits. Two additional traits treated as qualitative were also found to differ significantly among families. A parallel cultivation experiment showed that the extent of population divergence in a quantitative trait was positively correlated with the amount of inter- family variation, implying stability of the relative variability for substantial periods of time, a possible reflection of phenotypic constraints being expressed both within and between populations. Additional data indicated that genetic trade-offs among traits under simultaneous selection, year-to- year variation in selection in combination with a long-lived seed bank, and genotype × environment interactions, could prevent the erosion of genetic variability in some characters connected with fitness.     

Mendelian breeding units versus standard sampling strategies: Mitochondrial DNA variation in southwest Sardinia

We report a sampling strategy based on Mendelian Breeding Units (MBUs), representing an interbreeding group of individuals sharing a common gene pool. The identification of MBUs is crucial for case-control experimental design in association studies. The aim of this work was to evaluate the possible existence of bias in terms of genetic variability and haplogroup frequencies in the MBU sample, due to severe sample selection. In order to reach this goal, the MBU sampling strategy was compared to a standard selection of individuals according to their surname and place of birth. We analysed mitochondrial DNA variation (first hypervariable segment and coding region) in unrelated healthy subjects from two different areas of Sardinia: the area around the town of Cabras and the western Campidano area. No statistically significant differences were observed when the two sampling methods were compared, indicating that the stringent sample selection needed to establish a MBU does not alter original genetic variability and haplogroup distribution. Therefore, the MBU sampling strategy can be considered a useful tool in association studies of complex traits.     

芦苇生态型研究进展

芦苇生态幅极广,适生于多种生境类型。不同的环境选择压力如水深、盐度、养分、气候等交互影响致使芦苇个体及种群间发生不同程度的分化和变异,形成了形态、生理或遗传上互有差异、异地性的不同生态型。尽管基于芦苇表型变异以及遗传变异进行生态型划分的研究已开展很多,但针对芦苇生态型变异规律及其可能的形成机制的认知仍存在较多分歧。在总结近年来有关芦苇生态型研究文献的基础上,通过对影响芦苇生态型变异的主要因素——环境因素和遗传因素的分析,以期为芦苇生态型的划分及其可能的形成机制提供新的研究思路。(1)空间尺度的选择应成为研究者分析、划分芦苇生态型的首要定位。在较大的地理空间尺度上,高度异质性的生境导致某些性状的变异式样具有相对的不连续性,可作为不同芦苇生态型鉴别与描述的主要依据;(2)在合理的尺度定位、取样设计和统计分析的基础上开展的表型变异研究,及进一步基于种群水平的分子标记研究(分子指纹特征或特有等位基因),可为芦苇生态型的鉴定、划分提供更为可靠的参考数据,并且可以甄别生境差异(环境响应)和遗传变异对芦苇不同生态型分化的贡献;(3)应同时进行不同生态型的特定性状与功能(株高、茎粗、生物量、生理抗逆性、水体污染物净化能力等)的定位,推动优良基因型的选育与扩繁。     

Genome-wide Introgression Lines and their Use in Genetic and Molecular Dissection of Complex Phenotypes in Rice (Oryza sativa L.)

Tremendous efforts have been taken worldwide to develop genome-wide genetic stocks for rice functional genomic (FG) research since the rice genome was completely sequenced. To facilitate FG research of complex polygenic phenotypes in rice, we report the development of over 20 000 introgression lines (ILs) in three elite rice genetic backgrounds for a wide range of complex traits, including resistances/tolerances to many biotic and abiotic stresses, morpho-agronomic traits, physiological traits, etc., by selective introgression. ILs within each genetic background are phenotypically similar to their recurrent parent but each carries one or a few traits introgressed from a known donor. Together, these ILs contain a significant portion of loci affecting the selected complex phenotypes at which allelic diversity exists in the primary gene pool of rice. A forward genetics strategy was proposed and demonstrated with examples on how to use these ILs for large-scale FG research. Complementary to the genome-wide insertional mutants, these ILs opens a new way for highly efficient discovery, candidate gene identification and cloning of important QTLs for specific phenotypes based on convergent evidence from QTL position, expression profiling, functional and molecular diversity analyses of candidate genes, highlights the importance of genetic networks underlying complex phenotypes in rice that may ultimately lead to more complete understanding of the genetic and molecular bases of quantitative trait variation in rice. Supplementary material to this paper is available in electronic form at http://dx.doi.org/10.1007/s11103-005-8519-3