bluuebunny/crossref_metadata_2025_split huggingface dataset:
Natural Variation of ebony Gene Controlling Thoracic Pigmentation in Drosophila melanogaster
Authors: Takahashi Aya , Takahashi Kuniaki , Ueda Ryu , Takano-Shimizu Toshiyuki 
Published: July 2007

Abstract
We identified the causal genetic variation for the difference in the thoracic trident pigmentation intensity between two wild-derived strains of Drosophila melanogaster. It was found to be the difference in expression level of ebony, which codes for an enzyme in the melanin-synthesis pathway and has pleiotropic effects on vision and behavior.
Using Quantitative Trait Loci Results to Discriminate Among Crosses on the Basis of Their Progeny Mean and Variance
Authors: Zhong Shengqiang , Jannink Jean-Luc 
Published: July 2007

Abstract
To develop inbred lines, parents are crossed to generate segregating populations from which superior inbred progeny are selected. The value of a particular cross thus depends on the expected performance of its best progeny, which we call the superior progeny value. Superior progeny value is a linear combination of the mean of the cross's progeny and their standard deviation. In this study we specify theory to predict a cross's progeny standard deviation from QTL results and explore analytically and by simulation the variance of that standard deviation under different genetic models. We then study the impact of different QTL analysis methods on the prediction accuracy of a cross's superior progeny value. We show that including all markers, rather than only markers with significant effects, improves the prediction. Methods that account for the uncertainty of the QTL analysis by integrating over the posterior distributions of effect estimates also produce better predictions than methods that retain only point estimates from the QTL analysis. The utility of including estimates of a cross's among-progeny standard deviation in the prediction increases with increasing heritability and marker density but decreasing genome size and QTL number. This utility is also higher if crosses are envisioned only among the best parents rather than among all parents. Nevertheless, we show that among crosses the variance of progeny means is generally much greater than the variance of progeny standard deviations, restricting the utility of estimates of progeny standard deviations to a relatively small parameter space.
Molecular Genetic Analysis of Two Loci (Ity2andIty3) Involved in the Host Response to Infection With Salmonella Typhimurium Using Congenic Mice and Expression Profiling
Authors: Sancho-Shimizu Vanessa , Khan Rabia , Mostowy Serge , Larivière Line , Wilkinson Rosalie , Riendeau Noémie , Behr Marcel , Malo Danielle 
Published: July 2007

AbstractNumerous genes have been identified to date that contribute to the host response to systemic Salmonella Typhimurium infection in mice. We have previously identified two loci, Ity2 and Ity3, that control survival to Salmonella infection in the wild-derived inbred MOLF/Ei mouse using a (C57BL/6J × MOLF/Ei)F2cross. We validated the existence of these two loci by creating congenic mice carrying each quantitative trait locus (QTL) in isolation. Subcongenic mice generated for each locus allowed us to define the critical intervals underlying Ity2 and Ity3. Furthermore, expression profiling was carried out with the aim of identifying differentially expressed genes within the critical intervals as potential candidate genes. Genomewide expression arrays were used to interrogate expression differences in the Ity2 congenics, leading to the identification of a new candidate gene (Havcr2, hepatitis A virus cellular receptor 2). Interval-specific oligonucleotide arrays were created for Ity3, identifying one potential candidate gene (Chi3l1, chitinase 3-like 1) to be pursued further. The combination of the use of congenics in QTL confirmation and fine mapping and in the identification of candidate genes by expression profiling has been successful and represents a step toward quantitative gene(s) identification.
Genomewide Rapid Association Using Mixed Model and Regression: A Fast and Simple Method For Genomewide Pedigree-Based Quantitative Trait Loci Association Analysis
Authors: Aulchenko Yurii S , de Koning Dirk-Jan , Haley Chris 
Published: July 2007

Abstract
For pedigree-based quantitative trait loci (QTL) association analysis, a range of methods utilizing within-family variation such as transmission-disequilibrium test (TDT)-based methods have been developed. In scenarios where stratification is not a concern, methods exploiting between-family variation in addition to within-family variation, such as the measured genotype (MG) approach, have greater power. Application of MG methods can be computationally demanding (especially for large pedigrees), making genomewide scans practically infeasible. Here we suggest a novel approach for genomewide pedigree-based quantitative trait loci (QTL) association analysis: genomewide rapid association using mixed model and regression (GRAMMAR). The method first obtains residuals adjusted for family effects and subsequently analyzes the association between these residuals and genetic polymorphisms using rapid least-squares methods. At the final step, the selected polymorphisms may be followed up with the full measured genotype (MG) analysis. In a simulation study, we compared type 1 error, power, and operational characteristics of the proposed method with those of MG and TDT-based approaches. For moderately heritable (30%) traits in human pedigrees the power of the GRAMMAR and the MG approaches is similar and is much higher than that of TDT-based approaches. When using tabulated thresholds, the proposed method is less powerful than MG for very high heritabilities and pedigrees including large sibships like those observed in livestock pedigrees. However, there is little or no difference in empirical power of MG and the proposed method. In any scenario, GRAMMAR is much faster than MG and enables rapid analysis of hundreds of thousands of markers.
Multilevel Selection 3: Modeling the Effects of Interacting Individuals as a Function of Group Size
Authors: Hadfield Jarrod D , Wilson Alastair J 
Published: July 2007

Abstract
Bijma et al. (2007a,b) presented a quantitative genetic theory of multilevel selection and showed how to estimate the relevant parameters using standard restricted maximum-likelihood (REML) methodology. Extending their results we develop a wider class of models that provide a more realistic framework for capturing the effects of interacting individuals. These models also make use of standard REML techniques and include the original model as a special case.
Misregulation of the Kinesin-like Protein Subito Induces Meiotic Spindle Formation in the Absence of Chromosomes and Centrosomes
Authors: Jang Janet K , Rahman Taslima , Kober Vanessa S , Cesario Jeffry , McKim Kim S 
Published: July 2007

AbstractBipolar spindles assemble in the absence of centrosomes in the oocytes of many species. In Drosophila melanogaster oocytes, the chromosomes have been proposed to initiate spindle assembly by nucleating or capturing microtubules, although the mechanism is not understood. An important contributor to this process is Subito, which is a kinesin-6 protein that is required for bundling interpolar microtubules located within the central spindle at metaphase I. We have characterized the domains of Subito that regulate its activity and its specificity for antiparallel microtubules. This analysis has revealed that the C-terminal domain may interact independently with microtubules while the motor domain is required for maintaining the interaction with the antiparallel microtubules. Surprisingly, deletion of the N-terminal domain resulted in a Subito protein capable of promoting the assembly of bipolar spindles that do not include centrosomes or chromosomes. Bipolar acentrosomal spindle formation during meiosis in oocytes may be driven by the bundling of antiparallel microtubules. Furthermore, these experiments have revealed evidence of a nuclear- or chromosome-based signal that acts at a distance to activate Subito. Instead of the chromosomes directly capturing microtubules, signals released upon nuclear envelope breakdown may activate proteins like Subito, which in turn bundles together microtubules.
Triple Mutants Uncover Three New Genes Required for Social Motility inMyxococcus xanthus
Authors: Youderian Philip , Hartzell Patricia L 
Published: July 2007

AbstractThe bacterium Myxococcus xanthus glides over surfaces using two different locomotive mechanisms, called S (social) and A (adventurous) motility that enable cells to move both as groups and as individuals. Neither mechanism involves flagella. The functions of these two motors are coordinated by the activity of a small Ras-like protein, encoded by the mglA gene. The results of previous studies of a second-site suppressor of the mglA-8 missense mutation masK-815 indicate that MglA interacts with a protein tyrosine kinase, MasK, to control social motility. Sequence analysis of the sites of 12 independent insertions of the transposon magellan-4 that result in the loss of motility in an M. xanthus mglA-8 masK-815 double mutant shows that nine of these 12 insertions are in genes known to be required for S gliding motility. This result confirms that the masK-815 suppressor restores S but not A motility. Three of the 12 insertions define three new genes required for S motility and show that the attachment of heptose to the lipopolysaccharide inner core, an ortholog of the CheR methyltransferase, and a large protein with YD repeat motifs, are required for S motility. When these three insertions are backcrossed into an otherwise wild-type genetic background, their recombinants are found to have defects in S, but not, A motility. The spectrum of magellan-4 insertions that lead to the loss of S motility in the mglA-8 masK-815 double mutant background is different than that resulting from a previous mutant hunt starting with a different (A mutant) genetic background, suggesting that the number of genes required for S motility in M. xanthus is quite large.
Schizosaccharomyces pombe Switches Mating Type by the Synthesis-Dependent Strand-Annealing Mechanism
Authors: Yamada-Inagawa Tomoko , Klar Amar J S , Dalgaard Jacob Z 
Published: July 2007

Abstract
Schizosaccharomyces pombe cells can switch between two mating types, plus (P) and minus (M). The change in cell type occurs due to a replication-coupled recombination event that transfers genetic information from one of the silent-donor loci, mat2P or mat3M, into the expressed mating-type determining mat1 locus. The mat1 locus can as a consequence contain DNA encoding either P or M information. A molecular mechanism, known as synthesis-dependent strand annealing, has been proposed for the underlying recombination event. A key feature of this model is that only one DNA strand of the donor locus provides the information that is copied into the mat1. Here we test the model by constructing strains that switch using two different mutant P cassettes introduced at the donor loci, mat2 and mat3. We show that in such strains wild-type P-cassette DNA is efficiently generated at mat1 through heteroduplex DNA formation and repair. The present data provide an in vivo genetic test of the proposed molecular recombination mechanism.
Isolation and Characterization of Saccharomyces cerevisiae Mutants Defective in Chromosome Transmission in an Undergraduate Genetics Research Course
Authors: Sleister Heidi Major 
Published: July 2007

Abstract
An upper-level genetics research course was developed to expose undergraduates to investigative science. Students are immersed in a research project with the ultimate goal of identifying proteins important for chromosome transmission in mitosis. After mutagenizing yeast Saccharomyces cerevisiae cells, students implement a genetic screen that allows for visual detection of mutants with an increased loss of an ADE2-marked yeast artificial chromosome (YAC). Students then genetically characterize the mutants and begin efforts to identify the defective genes in these mutants. While engaged in this research project, students practice a variety of technical skills in both classical and molecular genetics. Furthermore, students learn to collaborate and gain experience in sharing scientific findings with others in the form of written papers, poster presentations, and oral presentations. Previous students indicated that, relative to a traditional laboratory course, this research course improved their understanding of scientific concepts and technical skills and helped them make connections between concepts. Moreover, this course allowed students to experience scientific inquiry and was influential for students as they considered future endeavors.
E(var)3-9ofDrosophila melanogasterEncodes a Zinc Finger Protein
Authors: Weiler Karen S 
Published: July 2007

AbstractThe importance of a gene's natural chromatin environment for its normal expression is poignantly illustrated when a change in chromosome position results in variable gene repression, such as is observed in position effect variegation (PEV) when the Drosophila melanogaster white (w) gene is juxtaposed with heterochromatin. The Enhancer of variegation 3-9 [E(var)3-9] gene was one of over a hundred loci identified in screens for mutations that dominantly modify PEV. Haploinsufficiency for E(var)3-9 enhances wm4 variegation, as would be expected from increased heterochromatin formation. To clarify the role of E(var)3-9 in chromosome structure, the gene has been cloned and its mutant alleles characterized. The involvement of E(var)3-9 in structure determination was supported by its reciprocal effects on euchromatic and heterochromatic PEV; E(var)3-9 mutations increased expression of a variegating heterochromatic gene in two tissue types. E(var)3-9 mutations also had a recessive phenotype, maternal effect lethality, which implicated E(var)3-9 function in an essential process during embryogenesis. Both phenotypes of E(var)3-9 mutations were consistent with its proposed function in promoting normal chromosome structure. The cloning of E(var)3-9 by classical genetic methods revealed that it encodes a protein with multiple zinc fingers, but otherwise novel sequence.
Caenorhabditis elegans SDF-9 Enhances Insulin/Insulin-Like Signaling Through Interaction With DAF-2
Authors: Jensen Victor L , Albert Patrice S , Riddle Donald L 
Published: July 2007

Abstract
SDF-9 is a modulator of Caenorhabditis elegans insulin/IGF-1 signaling that may interact directly with the DAF-2 receptor. SDF-9 is a tyrosine phosphatase-like protein that, when mutated, enhances many partial loss-of-function mutants in the dauer pathway except for the temperature-sensitive mutant daf-2(m41). We propose that SDF-9 stabilizes the active phosphorylated state of DAF-2 or acts as an adaptor protein to enhance insulin-like signaling.
Reconciling Strong Stabilizing Selection with the Maintenance of Genetic Variation in a Natural Population of Black Field Crickets (Teleogryllus commodus)
Authors: Hunt John , Blows Mark W , Zajitschek Felix , Jennions Michael D , Brooks Robert 
Published: July 2007

Abstract
Genetic variation in single traits, including those closely related to fitness, is pervasive and generally high. By contrast, theory predicts that several forms of selection, including stabilizing selection, will eliminate genetic variation. Stabilizing selection in natural populations tends to be stronger than that assumed in theoretical models of the maintenance of genetic variation. The widespread presence of genetic variation in the presence of strong stabilizing selection is a persistent problem in evolutionary genetics that currently has no compelling explanation. The recent insight that stabilizing selection often acts most strongly on trait combinations via correlational selection may reconcile this problem. Here we show that for a set of male call properties in the cricket Teleogryllus commodus, the pattern of multivariate stabilizing sexual selection is closely associated with the degree of additive genetic variance. The multivariate trait combinations experiencing the strongest stabilizing selection harbored very little genetic variation while combinations under weak selection contained most of the genetic variation. Our experiment provides empirical support for the prediction that a small number of trait combinations experiencing strong stabilizing selection will have reduced genetic variance and that genetically independent trait combinations experiencing weak selection can simultaneously harbor much higher levels of genetic variance.
The Population Genetic Structure of Clonal Organisms Generated by Exponentially Bounded and Fat-Tailed Dispersal
Authors: Wingen Luzie U , Brown James K M , Shaw Michael W 
Published: July 2007

AbstractLong-distance dispersal (LDD) plays an important role in many population processes like colonization, range expansion, and epidemics. LDD of small particles like fungal spores is often a result of turbulent wind dispersal and is best described by functions with power-law behavior in the tails (“fat tailed”). The influence of fat-tailed LDD on population genetic structure is reported in this article. In computer simulations, the population structure generated by power-law dispersal with exponents in the range of −2 to −1, in distinct contrast to that generated by exponential dispersal, has a fractal structure. As the power-law exponent becomes smaller, the distribution of individual genotypes becomes more self-similar at different scales. Common statistics like GST are not well suited to summarizing differences between the population genetic structures. Instead, fractal and self-similarity statistics demonstrated differences in structure arising from fat-tailed and exponential dispersal. When dispersal is fat tailed, a log–log plot of the Simpson index against distance between subpopulations has an approximately constant gradient over a large range of spatial scales. The fractal dimension D2 is linearly inversely related to the power-law exponent, with a slope of ∼ −2. In a large simulation arena, fat-tailed LDD allows colonization of the entire space by all genotypes whereas exponentially bounded dispersal eventually confines all descendants of a single clonal lineage to a relatively small area.
Empirical Bayes Inference of Pairwise FST and Its Distribution in the Genome
Authors: Kitada Shuichi , Kitakado Toshihide , Kishino Hirohisa 
Published: July 2007

Abstract
Populations often have very complex hierarchical structure. Therefore, it is crucial in genetic monitoring and conservation biology to have a reliable estimate of the pattern of population subdivision. FST's for pairs of sampled localities or subpopulations are crucial statistics for the exploratory analysis of population structures, such as cluster analysis and multidimensional scaling. However, the estimation of FST is not precise enough to reliably estimate the population structure and the extent of heterogeneity. This article proposes an empirical Bayes procedure to estimate locus-specific pairwise FST's. The posterior mean of the pairwise FST can be interpreted as a shrinkage estimator, which reduces the variance of conventional estimators largely at the expense of a small bias. The global FST of a population generally varies among loci in the genome. Our maximum-likelihood estimates of global FST's can be used as sufficient statistics to estimate the distribution of FST in the genome. We demonstrate the efficacy and robustness of our model by simulation and by an analysis of the microsatellite allele frequencies of the Pacific herring. The heterogeneity of the global FST in the genome is discussed on the basis of the estimated distribution of the global FST for the herring and examples of human single nucleotide polymorphisms (SNPs).
A Genetic Screen For DNA Double-Strand Break Repair Mutations in Drosophila
Authors: Wei Debbie S , Rong Yikang S 
Published: July 2007

Abstract
The study of DNA double-strand break (DSB) repair has been greatly facilitated by the use of rare-cutting endonucleases, which induce a break precisely at their cut sites that can be strategically placed in the genome. We previously established such a system in Drosophila and showed that the yeast I-SceI enzyme cuts efficiently in Drosophila cells and those breaks are effectively repaired by conserved mechanisms. In this study, we determined the genetic requirements for the repair of this I-SceI-induced DSB in the germline. We show that Drosophila Rad51 and Rad54 are both required for homologous repair by gene conversion, but are dispensable for single-strand annealing repair. We provided evidence suggesting that Rad51 is more stringently required than Rad54 for intersister gene conversion. We uncovered a significant role of DNA ligase IV in nonhomologous end joining. We conducted a screen for candidate mutations affecting DSB repair and discovered novel mutations in genes that include mutagen sensitive 206, single-strand annealing reducer, and others. In addition, we demonstrated an intricate balance among different repair pathways in which the cell differentially utilizes repair mechanisms in response to both changes in the genomic environment surrounding the break and deficiencies in one or the other repair pathways.
Complex Genetic Changes in Strains of Saccharomyces cerevisiae Derived by Selection in the Laboratory
Authors: Witten Joshua T , Chen Christina T L , Cohen Barak A 
Published: July 2007

Abstract
Selection of model organisms in the laboratory has the potential to generate useful substrates for testing evolutionary theories. These studies generally employ relatively long-term selections with weak selective pressures to allow the accumulation of multiple adaptations. In contrast to this approach, we analyzed two strains of Saccharomyces cerevisiae that were selected for resistance to multiple stress challenges by a rapid selection scheme to test whether the variation between rapidly selected strains might also be useful in evolutionary studies. We found that resistance to oxidative stress is a multigene trait in these strains. Both derived strains possess the same major-effect adaptations to oxidative stress, but have distinct modifiers of the phenotype. Similarly, both derived strains have altered their global transcriptional responses to oxidative stress in similar ways, but do have at least some distinct differences in transcriptional regulation. We conclude that short-term laboratory selections can generate complex genetic variation that may be a useful substrate for testing evolutionary theories.