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Genetic architecture of Arabidopsis thaliana response to infection by Pseudomonas syringae.

Plant pathogens can severely reduce host yield and fitness. Thus, investigating the genetic basis of plant response to pathogens is important to further understand plant-pathogen coevolution and to improve crop production. The interaction between Arabidopsis thaliana and Pseudomonas syringae is an important model for studying the genetic basis of plant-pathogen interactions. Studies in this model have led to the discovery of many genes that differentiate a resistant from a susceptible plant. However, little is known about the genetic basis of quantitative variation in response to P. syringae. In this study, we investigate the genetic basis of three aspects of A. thaliana's response to P. syringae: symptom severity, bacterial population size and fruit production using a quantitative trait loci (QTL) analysis. We found two QTL for symptom severity and two for fruit production (possible candidate genes for observed QTL are discussed). We also found significant two-locus epistatic effect on symptom severity and fruit production. Although bacterial population size and symptom severity were strongly phenotypically correlated, we did not detect any QTL for bacterial population size. Despite the detected genetic variation observed for susceptibility, we found only a weak overall relationship between susceptibility traits and fitness, suggesting that these traits may not respond to selection.

Arabidopsis↗

Variation for neutral markers is correlated with variation for quantitative traits in the plant pathogenic fungus Mycosphaerella graminicola.

We compared genetic variation and population differentiation at RFLP marker loci with seven quantitative characters including fungicide resistance, temperature sensitivity, pycnidial size, pycnidial density, colony size, percentage of leaves covered by pycnidia (PLACP) and percentage of leaves covered by lesions (PLACL) in Mycosphaerella graminicola populations sampled from four regions. Wide variation in population differentiation was found across the quantitative traits assayed. Fungicide resistance, temperature sensitivity, and PLACP displayed a significantly higher Q(ST) than G(ST), consistent with selection for local adaptation, while pycnidial size, pycnidial density and colony size displayed a lower or significantly lower Q(ST) than G(ST), consistent with constraining selection. There was not a statistical difference between Q(ST) and G(ST) in PLACL. We also found a positive and significant correlation between genetic variation in molecular marker loci and quantitative traits at the multitrait scale, suggesting that estimates of overall genetic variation for quantitative traits in M. graminicola could be derived from analysis of the molecular genetic markers.

Ascomycota↗

Immunochemical characterization of murine H-2 controlled Ss (serum substance) protein through identification of its human homologue as the fourth component of complement.

The S region of the mouse H-2 complex is genetically defined by a series of alleles, or pseudoalleles, which control the level of a serum globulin, Ss, and of its allotypic vairatn, Slp. In contrast with the products of other genes in the complex, no homologue of the Ss protein has been found in other species, except the rat. In the present study, a component in human plasma was identified which cross-reacts with anti-mouse Ss, and which also displays electrophoretic and size similarities to the mouse Ss protein. This component was isolated and characterized immunochemically as the fourth component of human complement (C'4 or beta1E globulin). Several antisera monospecific for human C'4 cross-react with the mouse Ss protein and detect its genetically determined quantitative variations.

Animals↗

[Mapping and analysis QTL controlling some morphological traits in Chinese cabbage (Brassica campestris L. ssp. pekinensis)].

An AFLP and RAPD genetic map with 352 markers and a RIL (recombinant inbred lines) population from the cross of two cultivated Chinese cabbage lines were employed in mapping and analysis quantitative trait loci (QTL). The number, location, variation explained and additive effect of QTL underlying nine morphological traits were determined by using composite interval mapping method. Fifty putative QTL, including five for plant growth habit, six for plant height, five for plant diameter, seven for leaf length, four for leaf width, six for leaf length/leaf width ratio, seven for petiole length, four for petiole width and six for bolting character, were mapped on 14 linkage groups. There were unequal gene effects and unequal variation explained on the expression of many morphological traits. These results are fundamentals for molecular assisted selection of morphological traits in Chinese cabbage breeding.

Brassica↗

Genetic variation and exposure related risk estimation: will toxicology enter a new era? DNA repair and cancer as a paradigm.

With the vast technological and informational resources increasingly available from investments in "genomics," toxicology and much of biological science, is faced with previously undreamed of opportunities and equally daunting challenges. The ability to generate the large quantities of data becoming routinely available could not be imagined a decade ago. The complexities of data analysis are increasingly the rate-limiting element in scientific advances. The expectations that these large scientific investments will reduce the incidence of human disease and improve health are very high. An emphasis on genetic variation and Toxicogenetics is expected to yield risk estimates for specific rather than average individuals and individuals with varied lifestyles and complex patterns of exposure. Examples from studies of polymorphic variation in DNA repair genes in the healthy population and cancer risk highlight the complexity and challenges of incorporating genetic variation into quantitative estimates of risk associated with environmentally relevant exposures. Similar issues exist in selecting the animal models most appropriate for predicting human risk from environmental exposures to toxic agents.

Animals↗

Quantitative trait loci that determine lipoprotein cholesterol levels in DBA/2J and CAST/Ei inbred mice.

To investigate genetic contributions to individual variations of lipoprotein cholesterol concentrations, we performed quantitative trait locus/loci (QTL) analyses of an intercross of CAST/Ei and DBA/2J inbred mouse strains after feeding a high-cholesterol cholic acid diet for 10 weeks. In total, we identified four QTL for HDL cholesterol. Three of these were novel and were named Hdlq10 [20 centimorgans (cM), chromosome 4], Hdlq11 (48 cM, chromosome 6), and Hdlq12 (68 cM, chromosome 6). The fourth QTL, Hdl1 (48 cM, chromosome 2), confirmed a locus discovered previously using a breeding cross that employed different inbred mouse strains. In addition, we identified one novel QTL for total and non-HDL cholesterol (8 cM, chromosome 9) that we named Chol6. Hdlq10, colocalized with a mutagenesis-induced point mutation (Lch), also affecting HDL. We provide molecular evidence for Abca1 as the gene underlying Hdlq10 and Ldlr as the gene underlying Chol6 that, coupled with evidence generated by other researchers using knockout and transgenic models, causes us to postulate that polymorphisms of these genes, different from the mutations leading to Tangier's disease and familial hypercholesterolemia, respectively, are likely primary genetic determinants of quantitative variation of lipoprotein levels in mice and, by orthology, in the human population.

Animals↗

Spatial structure of two-locus genotypes under isolation by distance.

Extensive Monte Carlo simulations are conducted of spatial distributions of two-locus genotypes in large, continuous populations under isolation by distance models. The results show that substantial patches of double homozygotes are present in the spatial structures, even when loci are unlinked. The stochastic spread of identical two-locus genotypes largely outpowers the tendency for recombination to decouple patterns for separate loci. A spatial patch is a large area containing mostly one double homozygous genotype in a highly contiguous constellation. This patch structure is reflected in high positive spatial autocorrelations and large excesses of pairs, or joins, of identical double homozygotes at short-to-intermediate distances of spatial separation. Although spatial patches of double homozygotes are the dominant spatial feature, and the major contributors to overall high levels of autocorrelations among two-locus genotypes, other substantial features include areas of concentrations of identical genotypes heterozygous at only one locus. One implication of the patch structure is the presence of high levels of linkage disequilibrium, caused by isolation by distance even for unlinked loci, at some spatial scales; yet the disequilibrium in the large total populations is near 0. Thus linkage disequilibrium produced by isolation by distance is highly dependent on spatial scale. Another implication is that high degrees of spatial structuring and autocorrelations are produced for genetic variation controlling quantitative traits, at least when the number of loci is relatively small, under a wide range of situations, even if the trait is selectively neutral. The significance of the results to field studies is also examined.

Diploidy↗

Genetic variability under mutation selection balance.

A fundamental problem in evolutionary genetics is understanding how high levels of genetic variation in quantitative traits are maintained in natural populations. Variation is removed by the natural selection of individuals with optimal phenotypes and is recovered by mutation; however, previous analyses had indicated that a mutation-selection balance was insufficient to maintain observed levels of genetic variation in these traits. Using more general models, however, it has recently been shown that it is indeed a sufficient mechanism. These models can be used to explore other phenomena in evolutionary biology.

Journal Article↗

Back to the future: genetic correlations, adaptation and speciation.

Genetic correlations can affect the course of phenotypic evolution. Although genetic correlations among traits are a common feature of quantitative genetic analyses, they have played a very minor role in recent linkage-map based analyses of the genetic architecture of quantitative traits. Here, we use our work on host-associated races in pea aphids to illustrate how quantitative trait locus (QTL) mapping can be used to test specific hypotheses about how genetic correlations may facilitate ecological specialization and speciation.

Adaptation, Biological↗

[Identification of quantitative trait loci associated with fruit traits in watermelon [Citullus lanantus (Thanb) Mansf] and analysis of their genetic effects].

In this study, we mapped and characterized quantitative trait loci (QTL) affecting watermelon fruit traits. A total of 118 F2 progenies derived from the cross 97103 (which is a cultivar with higher total soluble solids concentration, thin rind, susceptible to Fusarium wilt disease) x PI296341(which is a wild germplasm with lower total soluble solids concentration, thick rind, resistant to Fusarium wilt disease) were used to construct a 96-markers map in watermelon. By using interval mapping 4 QTLs for total soluble solids concentration, 5 QTLs for hardness of rind, 2 QTLs for thickness of rind, 3 QTLs for weight of simple fruit, and 6 QTLs for weight of one thousand grain seeds were identified. In addition, the explained variations, additive effects and dominance effects for all detected QTLs were analyzed.

Chromosome Mapping↗

[Heavy heat shock induces genetic variation in a polygenic system of a quantitative trait in Drosophila].

Results of two experiments dealing with positive and negative selection on the quantitative trait radius incompletus in an isogenic line of Drosophila melanogaster after heavy heat shock (HHS) are presented. Selection was not effective in the control without HHS. In experiment 1, in which offspring of HHS-exposed males lacked transposition induction, selection also was ineffective. By contrast, selection was highly effective in offspring of males that responded to HHS exposure by transposition induction. Thus, HHS, which is not mutagenic, generates genetic variation in a polygenic system of a quantitative trait via transpositions and excisions of mobile genetic elements. In experiment 2, positive and negative selection was conducted in three replicates, which showed concerted dynamics of the selected trait. This means that the trait dynamics is mainly related to the nearly deterministic process of accumulation of active polygenic alleles rather than to genetic drift. The induced variation of polygenic systems promotes rapid selection of "champion" genotypes. This variation is probably associated with "soft" modification of polygene expression by adjacent MGE copies.

Animals↗

Mapping quantitative trait Loci interactions from the maternal and offspring genomes.

The expression of most developmental or behavioral traits involves complex interactions between quantitative trait loci (QTL) from the maternal and offspring genomes. The maternal-offspring interactions play a pivotal role in shaping the direction and rate of evolution in terms of their substantial contribution to quantitative genetic (co)variation. To study the genetics and evolution of maternal-offspring interactions, a unifying statistical framework that embraces both the direct and indirect genetic effects of maternal and offspring QTL on any complex trait is developed. This model is derived for a simple backcross design within the maximum-likelihood context, implemented with the EM algorithm. Results from extensive simulations suggest that this model can provide reasonable estimation of additive and dominant effects of the QTL at different generations and their interaction effects derived from the maternal and offspring genomes. Although our model is framed to characterize the actions and interactions of maternal and offspring QTL affecting offspring traits, the idea can be readily extended to decipher the genetic machinery of maternal traits, such as maternal care. Our model provides a powerful means for studying the evolutionary significance of indirect genetic effects in any sexually reproductive organisms.

Animals↗

The effect of using approximate gametic variance covariance matrices on marker assisted selection by BLUP.

Under additive inheritance, the Henderson mixed model equations (HMME) provide an efficient approach to obtaining genetic evaluations by marker assisted best linear unbiased prediction (MABLUP) given pedigree relationships, trait and marker data. For large pedigrees with many missing markers, however, it is not feasible to calculate the exact gametic variance covariance matrix required to construct HMME. The objective of this study was to investigate the consequences of using approximate gametic variance covariance matrices on response to selection by MABLUP. Two methods were used to generate approximate variance covariance matrices. The first method (Method A) completely discards the marker information for individuals with an unknown linkage phase between two flanking markers. The second method (Method B) makes use of the marker information at only the most polymorphic marker locus for individuals with an unknown linkage phase. Data sets were simulated with and without missing marker data for flanking markers with 2, 4, 6, 8 or 12 alleles. Several missing marker data patterns were considered. The genetic variability explained by marked quantitative trait loci (MQTL) was modeled with one or two MQTL of equal effect. Response to selection by MABLUP using Method A or Method B were compared with that obtained by MABLUP using the exact genetic variance covariance matrix, which was estimated using 15,000 samples from the conditional distribution of genotypic values given the observed marker data. For the simulated conditions, the superiority of MABLUP over BLUP based only on pedigree relationships and trait data varied between 0.1% and 13.5% for Method A, between 1.7% and 23.8% for Method B, and between 7.6% and 28.9% for the exact method. The relative performance of the methods under investigation was not affected by the number of MQTL in the model.

Chromosome Mapping↗

Quantitative trait loci for cuticular hydrocarbons associated with sexual isolation between Drosophila simulans and D. sechellia.

The identification of genes with large effects on sexual isolation and speciation is an important link between classic evolutionary genetics and molecular biology. Few genes that affect sexual isolation and speciation have been identified, perhaps because many traits influencing sexual isolation are complex behaviors. Cuticular hydrocarbons (CHs) of species of the Drosophila melanogaster group play a large role in sexual isolation by functioning as contact pheromones influencing mate recognition. Some of the genes that play key roles in determining species-specific CHs have been identified. We have performed separate quantitative trait locus (QTL) analyses of 7-tricosene (7-T) and 7,11-heptacosadiene (7,11-HD), the two major female CHs differing between D. simulans and D. sechellia. We find that approximately 40% of the phenotypic variance in each CH is associated with two to four chromosomal regions. A region on the right arm of chromosome 3 contains QTL that affect both traits, but other QTL are in distinct chromosomal regions. Epistatic interactions were detected between two pairs of QTL for 7,11-HD such that if either were homozygous for the D. simulans allele, the fly was similar to D. simulans in phenotype, with a low level of 7,11-HD. We discuss the location of these regions with regard to candidate genes for CH production, including those for desaturases.

Alkadienes↗

Parental effects in a partially self-incompatible herb Campanula rapunculoides L. (Campanulaceae): influence of variation in the strength of self-incompatibility on seed set and progeny performance.

We employ a full reciprocal diallel design between 10 parental plants that differed in their strength of self-incompatibility (SI; strong, intermediate, and weak) to examine parental effects on seed set and 10 components of fitness of progeny performance in Campanula rapunculoides. We perform ANOVAs to separate the influence of the strength of SI and the identity of the maternal and paternal parent on family performance. We calculate the phenotypic and genetic correlations between traits to determine potentially evolutionary constraints. Finally, we employ maximum likelihood methods to estimate the components of quantitative genetic variance, as defined by Cockerham and Weir in their BioModel c. Our most significant finding is that weak SI plants have high outcrossed seed set as maternal parents. We argue that direct or pleiotropic effects of modifiers of SI probably cause this. Second, we find that extranuclear interactions, as defined by the BioModel, have strong effects on seed set and several vegetative and flowering traits. These findings indicate that some maternal plants selectively provision seeds sired by specific paternal donors and that some of this variation appears to be associated with modifiers of the strength of SI. We find other sources of significant quantitative genetic variation for all of the traits we examine and discuss the possible role these play in the evolution of the reproductive system. Taken together, our findings show that variation in the strength of SI may influence levels of quantitative genetic variation that, in turn, can influence the reproductive success of individuals in C. rapunculoides

Biological Evolution↗

Spatially structured genetic variation in a broadcast spawning bivalve: quantitative vs. molecular traits.

Understanding the origin, maintenance and significance of phenotypic variation is one of the central issues in evolutionary biology. An ongoing discussion focuses on the relative roles of isolation and selection as being at the heart of genetically based spatial variation. We address this issue in a representative of a taxon group in which isolation is unlikely: a marine broadcast spawning invertebrate. During the free-swimming larval phase, dispersal is potentially very large. For such taxa, small-scale population genetic structuring in neutral molecular markers tends to be limited, conform expectations. Small-scale differentiation of selective traits is expected to be hindered by the putatively high gene flow. We determined the geographical distribution of molecular markers and of variation in a shell shape measure, globosity, for the bivalve Macoma balthica (L.) in the western Dutch Wadden Sea and adjacent North Sea in three subsequent years, and found that shells of this clam are more globose in the Wadden Sea. By rearing clams in a common garden in the laboratory starting from the gamete phase, we show that the ecotypes are genetically different; heritability is estimated at 23%. The proportion of total genetic variation that is between sites is much larger for the morphological additive genetic variation (QST = 0.416) than for allozyme (FST = 0.000-0.022) and mitochondrial DNA cytochrome-c-oxidase-1 sequence variation (phiST = 0.017). Divergent selection must be involved and intraspecific spatial genetic differentiation in marine broadcast spawners is apparently not constrained by low levels of isolation.

Analysis of Variance↗

The control of natural variation in cytosine methylation in Arabidopsis.

We explore the extent and sources of epigenetic variation in cytosine methylation in natural accessions of the flowering plant, Arabidopsis thaliana, by focusing on the methylation of the major rRNA gene repeats at the two nucleolus organizer regions (NOR). Our findings indicate that natural variation in NOR methylation results from a combination of genetic and epigenetic mechanisms. Genetic variation in rRNA gene copy number and trans-acting modifier loci account for some of the natural variation in NOR methylation. Our results also suggest that divergence and inheritance of epigenetic information, independent of changes in underlying nucleotide sequence, may play an important role in maintaining natural variation in cytosine methylation.

Arabidopsis↗

Heritable variation in a family-diagnostic trait.

Derived characters that have not changed during the diversification of a clade provide traits that are diagnostic at higher taxonomic levels. The tetradynamous stamen condition (four long and two short stamens) of the Brassicaceae is an example of a diagnostic trait that has not changed during the diversification of this large flowering plant family. We investigated one hypothesis that might explain the long-term stasis of this trait-that tetradynamous stamens have persisted because of an absence of genetic variation underlying the trait. Through a sib-analysis with Raphanus raphanistrum and an artificial selection experiment with Brassica rapa, we demonstrate that significant genetic variation is present for the tetradynamous condition in both species and that the trait is therefore not constrained from evolutionary change by a lack of heritable genetic variation.

Brassica↗