Genetic and fine structure analysis of unc-26(IV) and adjacent regions in Caenorhabditis elegans

Summary The genetic organization of unc-26(IV) and adjacent regions was studied in Caenorhabditis elegans. We constructed a fine structure genetic map of unc-26(IV), a gene that affects locomotion and pharyngeal muscle movement but not muscle structure. Eleven alleles were positioned relative to each other recombinationally and were classified according to phenotypic severity. The unc-26 gene spans at least 0.026 map units, which is exceptionally large for a C. elegans gene. All but one allele, e205, are amorphic alleles. Interestingly, e205 is hypomorphic but also suppressible by the amber suppressor sup-7. Nineteen lethal mutations in the unc-26 region were isolated and characterized. The unc-26 region is subdivided into four zones by five deficiency breakpoints. These mutations fall into 15 complementation groups. The stages of development affected by these mutations were determined.     

Cloning and mapping of the genetic determinants for microcin C51 production and immunity

Microcin C51 is a small peptide antibiotic produced by Escherichia coli cells harbouring the 38 kb low copy number plasmid pC51, which codes for microcin production and immunity. The genetic determinants for microcin synthesis and immunity were cloned into the vectors pBR325, pUC19 and pACYC184. Physical and phenotypic analysis of deletion derivatives and mutant plasmids bearing insertions of transposon Tn5 showed that a DNA fragment of about 5 kb is required for microcin C51 synthesis and expression of complete immunity to microcin. Partial immunity can be provided by a 2 kb DNA fragment. Mutant plasmids were tested for their ability to complement Mic^– mutations. Results of these experiments indicate that at least three plasmid genes are required for microcin production. The host OmpR function is also necessary for microcin C51 synthesis.     

贵州省野生皂荚种实表型性状多样性分析

为深入了解贵州省野生皂荚(Gleditsia sinensis)荚果表型性状的遗传多样性及其变异类型,为皂荚的遗传改良、种质鉴定、亲本选择以及品种培育奠定理论基础。该研究以贵州省7个野生皂荚群体70个个体为研究对象,采用方差分析、主成分分析、相关性分析及多性状综合评价等方法对皂荚群体的10个种实表型性状进行系统分析和综合评价。结果显示：(1)所测皂荚的表型性状差异在群体内均达到极显著水平(P＜0.01);在群体间,除每荚粒数、种子宽、种子长宽积以及种子长宽比之外,其余表型性状的差异均达极显著水平(P＜0.01)。(2)7个居群野生皂荚各性状平均变异系数为21.16%,其中凯里市(P4)居群的变异系数最高(24.44%);居群间荚果的变异(29.22%)高于种子的变异(11.04%),且变异主要来自于群体内。(3)相关分析显示,皂荚种实各性状之间存在不同程度的关联性;主成分分析显示,前4个主成分(皂荚种子大小、单个荚果出籽数量、种子形态指数因子、与荚果长和种子厚相关的因子)的累积贡献率达69.783%,可基本反映皂荚表型性状的大部分信息;以10个种实性状对皂荚野生群体进行综合评价发现,来自于惠水县(P7)群体的皂荚种实性状综合评价最高。研究表明,贵州省野生皂荚在群体间及群体内具有丰富的表型变异,且群体内的变异大于群体间的变异,变异主要来自于群体内。     

Linkage analysis of the myosin heavy chain gene in Dictyostelium discoideum using a mutation generated by homologous recombination

Summary A mutation (mhcA1 in strain HMM) created by insertional gene inactivation was used to map the Dictyostelium discoideum myosin heavy chain gene (mhcA) to linkage group IV. Three phenotypic traits associated with this mutation (slow colony growth, inability of the mutant to develop past aggregation, and the presence of five to ten integrated vector copies) cosegregated as expected for the consequences of a single insertional event. This linkage was confirmed using a restriction fragment length polymorphism. The mhcA1 mutation was recessive to wild type and was nonallelic with mutations at the following loci on linkage group IV: aggJ, aggL, couH, minA, phgB and tsgB. This work demonstrates the ability to apply standard techniques developed for D. discoideum parasexual genetic analyses to mutants generated by transformation, which is of particular relevance to analysis of genes for which no classical mutations or restriction fragment length polymorphisms are available.     

Stability of deletion,insertion and point mutations at the bronze locus in maize

Summary Phenotypic revertants from several kinds of mutations, including deletions, have been detected by pollen analysis at the wx and Adh loci in maize. Mutations in these genes give phenotypic revertants with median frequencies of 0.7 and 0.5×10^–5, respectively. However, the nature of such revertants can only be analyzed following their recovery from conventional matings. In the current study large seed populations derived from crosses involving several bz (bronze) locus mutations in maize were examined for reversion to a Bz (purple) expression. Deletion, insertion and point mutations were included in the study. Principally, over 2 million gametes of the bz-R mutation, which is shown here to be associated with a 340 base pair deletion within the transcribed region of the gene, have been screened for reversion. No revertants from it or any of the other bz mutations have been recovered, even though a total of almost 5 million gametes from homoallelic crosses have been examined to date. Results from seed analysis are discussed in reference to those from pollen analysis in maize.     

火龙果种质资源果实特性的遗传多样性分析

为筛选火龙果(Hylocereus undatus)优良种质资源,对22份种质资源果实的表型性状、农艺性状、品质性状进行遗传多样性分析。结果表明,火龙果种质资源果实的表型性状、农艺性状和品质性状具有丰富的遗传多样性和较高的变异性,表型性状的多样性指数(H′)为0～1.04,品质性状为0.40～2.01;农艺性状的变异系数(CV)为0.06～0.38,品质性状为0.01～0.62。聚类分析表明,在遗传距离为15时,火龙果22份种质资源可分为5类,说明不同资源间亲缘关系较远。这为发掘火龙果的育种潜力,筛选优异基因资源,改良种质奠定了基础。     

茶条槭自然种群种子和果实表型多样性研究

为探析茶条槭(Acer ginnala)种子和果实表型差异程度及变异规律,该研究采用巢式方差分析、主成分分析、聚类分析等方法,对茶条槭主要分布区内7个种群种子和果实的12个表型性状进行比较研究,分析茶条槭种群间和种群内的表型多样性以及与地理生态因子的关系。结果表明:除种子长/宽(SLW)外,其它11个表型性状在茶条槭种群间和种群内均具有显著差异;各性状平均变异系数(CV)为13.90%,变异幅度为8.14%～32.08%;种群间翅果性状的平均变异系数(15.63%)高于种子性状的平均变异系数(8.71%),表明种子性状的稳定性高于果实性状。主成份分析中,果实形态特征对茶条槭种群表型的贡献率大于种子贡献率。种群间表型分化系数为35.47%,说明种群内变异(64.53%)大于种群间变异(35.47%),暗示变异主要来源于种群内变异。茶条槭种子和果实表型性状受地理生态因子影响较小,主要受自身遗传因素的影响。基于种群间欧式距离的聚类分析将茶条槭7个种群分为2大支,没有严格按照地理距离而聚类,表明茶条槭种群表型性状变异的不连续性。茶条槭不同种群种子和果实具有较高的表型多样性,与其分布范围和生物学特性有关。     

THE LOCI OF EVOLUTION: HOW PREDICTABLE IS GENETIC EVOLUTION?

Is genetic evolution predictable? Evolutionary developmental biologists have argued that, at least for morphological traits, the answer is a resounding yes. Most mutations causing morphological variation are expected to reside in the cis‐regulatory, rather than the coding, regions of developmental genes. This “cis‐regulatory hypothesis” has recently come under attack. In this review, we first describe and critique the arguments that have been proposed in support of the cis‐regulatory hypothesis. We then test the empirical support for the cis‐regulatory hypothesis with a comprehensive survey of mutations responsible for phenotypic evolution in multicellular organisms. Cis‐regulatory mutations currently represent approximately 22% of 331 identified genetic changes although the number of cis‐regulatory changes published annually is rapidly increasing. Above the species level, cis‐regulatory mutations altering morphology are more common than coding changes. Also, above the species level cis‐regulatory mutations predominate for genes not involved in terminal differentiation. These patterns imply that the simple question “Do coding or cis‐regulatory mutations cause more phenotypic evolution?” hides more interesting phenomena. Evolution in different kinds of populations and over different durations may result in selection of different kinds of mutations. Predicting the genetic basis of evolution requires a comprehensive synthesis of molecular developmental biology and population genetics.     

Phenotypic plasticity and character differentiation in a subdivided population ofIris pumila (Iridaceae)

Variation patterns in phenotypic plasticity and broad sense heritability of 26 characters were examined within and among closely adjacent habitats of the bearded iris,Iris pumila. It was found thatI. pumila has considerable differentiation for phenotypic plasticity and genetic variation over short distances. An analysis of relationships between character differentiation and phenotypic plasticity suggests that they could have evolved independently. Possible mechanisms for maintaining local differentiation of the observed plastic and genetic variation are also discussed.     

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome

Objective: We analyzed the clinical features and family-related gene mutations for the first two Chinese cases of type IV Waardenburg syndrome (WS4). Methods: Two families were analyzed in this study. The analysis included a medical history, clinical analysis, a hearing test and a physical examination. In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients. Results: The two WS4 cases presented with high phenotypic variability. Two novel heterozygous mutations (c.254G>A and c.698-2A>T) in the SOX10 gene were detected. The mutations identified in the patients were not found in unaffected family members or in 200 unrelated control subjects. Conclusions: This is the first report of WS4 in Chinese patients. In addition, two novel mutations in SOX10 gene have been identified.     

Univariate and multivariate analysis on phenotypic divergence in Phleum

Summary An analysis of phenotypic and genetic variability was performed on Phleum ambiguum populations obtained by vegetative propagation and grown in different environments. The investigation on a single character and the canonical analysis on several plant traits indicate that, while genetic variability (h²) is essentially constant, phenotypic variance and covariance are affected by different environments and successive clonations. The observed changes seem not to be reversible when plants, transferred to a different environment, are returned to the original one. Within-clones variability seems to be affected by environmental conditions without being directly related to them. The results reported seem to be in good agreement with the phenotypic divergence hypothesis.     

Somaclonal variation in a maize inbred line is not associated with changes in the number or location of Ac-homologous sequences

Summary Somaclonal variation (tissue culture-induced mutations) may result, in some instances, from the activation of transposable elements. This study was conducted to determine whether somaclonal variants in the Zea maize L. inbred line FR27rhm were associated with movement of the transposable element Activator (Ac). Ten variants, seven of which from genetic analyses fit a single recessive gene model and three which did not due to a low number of mutant plants, were selected for analysis. Total DNA from these and from uncultured FR27rhm seedlings were examined by Southern blot analysis using the internal 1.6-kb Hind III fragment derived from the cloned Ac7 element as a probe. By using a restriction endonuclease which does not cut within the element, the number and distribution of the copies of Acrelated sequences in the FR27rhm genome could be determined. From the number of bands seen in the blots, we conclude that the FR27rhm inbred contains large numbers of Ac -related sequences. However, the pattern of bands seen in the ten variants and in the uncultured seedlings were identical, indicating that there had been no movement of any of the Acrelated sequences to cause the tissue culture-induced mutations.Contribution from Department of Agronomy, University of Illinois, Urbana, IL 61801, supported by funds from the Illinois Agricultural Experiment Station and Illinois Foundation Seeds     

Genetic analysis of leaf form mutants from the Arabidopsis Information Service collection.

Although a vast inventory of morphological mutants of Arabidopsis thaliana is available, only some have been used for genetic studies of leaf development. Such is the case with the Arabidopsis Information Service (AIS) Form Mutants collection, assembled by A. R. Kranz and currently stored at the Nottingham Arabidopsis Stock Centre, which includes a large number of mutant lines, most of which have been little studied. With the aim of contributing to the genetic dissection of leaf ontogeny, we have subjected 57 mutant lines isolated by others to genetic analysis; 47 of which were from the AIS collection. These are characterized by vegetative leaves of abnormal shape or size, and were chosen as candidates for mutations in genes required for leaf morphogenesis. The mutant phenotypes studied were shown to be inherited as single recessive Mendelian traits and were classified into 10 phenotypic classes. These mutant strains were found to fall into 37 complementation groups, 7 of which corresponded to known genes. Results of the phenotypic analysis and data on the genetic interactions of these mutants are presented, and their possible developmental defects discussed. Received: 28 October 1998 / Accepted: 21 February 1999     

A POPULATION GENETIC THEORY OF CANALIZATION

Canalization is the suppression of phenotypic variation. Depending on the causes of phenotypic variation, one speaks either of genetic or environmental canalization. Genetic canalization describes insensitivity of a character to mutations, and the insensitivity to environmental factors is called environmental canalization. Genetic canalization is of interest because it influences the availability of heritable phenotypic variation to natural selection, and is thus potentially important in determining the pattern of phenotypic evolution. In this paper a number of population genetic models are considered of a quantitative character under stabilizing selection. The main purpose of this study is to define the population genetic conditions and constraints for the evolution of canalization. Environmental canalization is modeled as genotype specific environmental variance. It is shown that stabilizing selection favors genes that decrease environmental variance of quantitative characters. However, the theoretical limit of zero environmental variance has never been observed. Of the many ways to explain this fact, two are addressed by our model. It is shown that a “canalization limit” is reached if canalizing effects of mutations are correlated with direct effects on the same character. This canalization limit is predicted to be independent of the strength of stabilizing selection, which is inconsistent with recent experimental data (Sterns et al. 1995). The second model assumes that the canalizing genes have deleterious pleiotropic effects. If these deleterious effects are of the same magnitude as all the other mutations affecting fitness very strong stabilizing selection is required to allow the evolution of environmental canalization. Genetic canalization is modeled as an influence on the average effect of mutations at a locus of other genes. It is found that the selection for genetic canalization critically depends on the amount of genetic variation present in the population. The more genetic variation, the stronger the selection for canalizing effects. All factors that increase genetic variation favor the evolution of genetic canalization (large population size, high mutation rate, large number of genes). If genetic variation is maintained by mutation-selection balance, strong stabilizing selection can inhibit the evolution of genetic canalization. Strong stabilizing selection eliminates genetic variation to a level where selection for canalization does not work anymore. It is predicted that the most important characters (in terms of fitness) are not necessarily the most canalized ones, if they are under very strong stabilizing selection (k > 0.2V_e). The rate of decrease of mutational variance V_m is found to be less than 10% of the initial V_m. From this result it is concluded that characters with typical mutational variances of about 10^–3 V_e are in a metastable state where further evolution of genetic canalization is too slow to be of importance at a microevolutionary time scale. The implications for the explanation of macroevolutionary patterns are discussed.     

The significance of genetic erosion in the process of extinction

Summary The amount of genetic variation within a population is, among other things, related to population size. In small populations loss of genetic variation due to high levels of genetic drift and inbreeding may result in decline of individual fitness and increase the chance of population extinction. This chain of processes is known as genetic erosion. In this study we tested the genetic erosion hypothesis by investigating the relation between morphological variation and population size in two perennial, outbreeding plant species, Salvia pratensis and Scabiosa columbaria. To relate phenotypic variation to genetic variation the experiments were performed under common environmental conditions. For both species a positive correlation was observed between the amount of phenotypic variation and population size (Salvia r=0.915; Scabiosa r=0.703). Part of this variation is likely to have a genetic base, although maternal effects were present in the seedling and juvenile life stages. Differences between populations could in both species be attributed to parameters related to fitness, i.e. growth rate in Salvia and reproductive effort in Scabiosa. Discriminant functions reflecting these parameters did not however discriminate between large and small populations.Results are discussed in relation to the common environment approach and to electrophoretic results obtained earlier (Van Treuren et al. 1991).     

优良单株家系辣木叶的表型性状分析

为挖掘辣木(Moranga oleifera)优良种质资源,对30个优良单株家系的叶片表型性状进行研究。结果表明,除叶形外,辣木不同家系间的叶柄和叶片颜色、复叶数、复叶柄长度和直径、复叶间距、叶长、叶宽均存在不同程度的差异。复叶数与复叶柄长度和直径、复叶间距、叶长、叶宽呈极显著正相关;主成分分析表明,叶长、叶宽、复叶柄长度和直径、复叶间距、叶柄和叶片颜色是区分辣木不同家系最主要的叶片性状指标。聚类分析结果表明,30个辣木家系可分为3大类,叶片表型性状存在显著差异的家系的遗传距离较远。因此,叶柄和叶片颜色、复叶数、复叶柄长度和直径、复叶间距、叶长、叶宽将为直观区分辣木家系提供参考。     

Morphogenetic Effects of the Interaction of Floral Mutations Petal-Sepal and Anther in Petal in Papaver somniferumL.

The morphogenetic effects of the interaction of the floral mutations petal-sepal and anther in petal in Papaver somniferumL. with a monocarpic shoot were studied. During analysis of the mutations controlled by the genes ptspand Ant, no plants of the double-mutant class were found in the second generation, in which microsporangia form on the corolla sepal structures. The ratio of phenotypic classes obtained in the experiment corresponds to that inheritance, when the genetic control of mutant characters is realized by nonallele nonlinked genes Antand ptspupon epistatic interaction of these genes. These data were confirmed by analysis of the genotypes of F₂plants from the phenotypic class petal-sepal, which include plants that carry both mutant genes Antand ptsp. The results obtained suggest that the gene Ant, which controls the formation of microsporangia in the corolla metameres, is not expressed in the presence of a mutation of the gene ptsp; i.e., microsporangia are not formed in tissues with photosynthesizing cells. It is evident that the development of microsporangia is determined by the level of a product of the gene Ptsp. The role of flavonols (quercetin), inhibitors of photosynthesis, as a mechanism of regulation of activity of the genes controlling morphogenesis of the corolla elements and differentiation of microsporangia, is discussed.     

基于表型性状和SSR标记的57份辣椒种质遗传多样性分析

为了解辣椒(Capsicum annuum)种质资源的遗传多样性,以57份辣椒种质资源为材料,对34个表型性状进行变异度、多样性及主成分分析,分别基于表型性状和SSR分子标记进行聚类分析。结果表明,种质间的34个表型性状存在差异,平均变异系数为40.67%,平均Shannon-Weiner多样性指数为1.20;提取的10个主成分可以代表辣椒种质表型性状75.972%的遗传信息,其中第1主成分占比22.317%,主要由果实横径、单果重、果肩形状和果顶性状所组成;19对SSR引物的平均Nei’s基因多样性指数及香农信息指数分别为0.48和0.80;基于表型性状和SSR标记均将57份辣椒分为4类,但2种聚类结果间的相关性不显著(r=-0.175 9)。这为辣椒育种的亲本选配及种质资源评价提供理论依据。     

On the relation between genetic and environmental variability in animals

Summary If a phenotypic character is under stabilizing selection, the selective disadvantage of a nonoptimal genotype will decrease exponentially to zero as the proportion of phenotypic variation that is environmental in origin -V _e /V _p - increases. Under the modified mutation-drift hypothesis of genetic polymorphism, the proportion of mutations that are effectively neutral and average heterozygosity should increase with this ratio. Invertebrates, because of their small size, fast development, and low degree of homeostasis (relative to vertebrates), are expected to show a larger environmental component of phenotypic variation than vertebrates. This may help explain why invertebrates are in general more genetically variable than vertebrates and why, when laboratory populations ofDrosophila are maintained in heterogeneous environments, genetic variability is lost less rapidly than when they are kept in constant conditions.