bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail
Authors: Gunnarsson Ulrika , Hellström Anders R , Tixier-Boichard Michele , Minvielle Francis , Bed'hom Bertrand , Ito Shin'ichi , Jensen Per , Rattink Annemieke , Vereijken Addie , Andersson Leif 
Published: December 2006

Abstract
S*S (Silver), S*N (wild type/gold), and S*AL (sex-linked imperfect albinism) form a series of alleles at the S (Silver) locus on chicken (Gallus gallus) chromosome Z. Similarly, sex-linked imperfect albinism (AL*A) is the bottom recessive allele at the orthologous AL locus in Japanese quail (Coturnix japonica). The solute carrier family 45, member 2, protein (SLC45A2), previously denoted membrane-associated transporter protein (MATP), has an important role in vesicle sorting in the melanocytes. Here we report five SLC45A2 mutations. The 106delT mutation in the chicken S*AL allele results in a frameshift and a premature stop codon and the corresponding mRNA appears to be degraded by nonsense-mediated mRNA decay. A splice-site mutation in the Japanese quail AL*A allele causes in-frame skipping of exon 4. Two independent missense mutations (Tyr277Cys and Leu347Met) were associated with the Silver allele in chicken. The functional significance of the former mutation, associated only with Silver in White Leghorn, is unclear. Ala72Asp was associated with the cinnamon allele (AL*C) in the Japanese quail. The most interesting feature concerning the SLC45A2 variants documented in this study is the specific inhibition of expression of red pheomelanin in Silver chickens. This phenotypic effect cannot be explained on the basis of the current, incomplete, understanding of SLC45A2 function. It is an enigma why recessive null mutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereas some missense mutations are dominant and cause a specific inhibition of pheomelanin production.
Inference of Bacterial Microevolution Using Multilocus Sequence Data
Authors: Didelot Xavier , Falush Daniel 
Published: December 2006

Abstract
We describe a model-based method for using multilocus sequence data to infer the clonal relationships of bacteria and the chromosomal position of homologous recombination events that disrupt a clonal pattern of inheritance. The key assumption of our model is that recombination events introduce a constant rate of substitutions to a contiguous region of sequence. The method is applicable both to multilocus sequence typing (MLST) data from a few loci and to alignments of multiple bacterial genomes. It can be used to decide whether a subset of isolates share common ancestry, to estimate the age of the common ancestor, and hence to address a variety of epidemiological and ecological questions that hinge on the pattern of bacterial spread. It should also be useful in associating particular genetic events with the changes in phenotype that they cause. We show that the model outperforms existing methods of subdividing recombinogenic bacteria using MLST data and provide examples from Salmonella and Bacillus. The software used in this article, ClonalFrame, is available from http://bacteria.stats.ox.ac.uk/.
The Sensitivity of Yeast Mutants to Oleic Acid Implicates the Peroxisome and Other Processes in Membrane Function
Authors: Lockshon Daniel , Surface Lauren E , Kerr Emily O , Kaeberlein Matt , Kennedy Brian K 
Published: December 2006

Abstract
The peroxisome, sole site of β-oxidation in Saccharomyces cerevisiae, is known to be required for optimal growth in the presence of fatty acid. Screening of the haploid yeast deletion collection identified ∼130 genes, 23 encoding peroxisomal proteins, necessary for normal growth on oleic acid. Oleate slightly enhances growth of wild-type yeast and inhibits growth of all strains identified by the screen. Nonperoxisomal processes, among them chromatin modification by H2AZ, Pol II mediator function, and cell-wall-associated activities, also prevent oleate toxicity. The most oleate-inhibited strains lack Sap190, a putative adaptor for the PP2A-type protein phosphatase Sit4 (which is also required for normal growth on oleate) and Ilm1, a protein of unknown function. Palmitoleate, the other main unsaturated fatty acid of Saccharomyces, fails to inhibit growth of the sap190Δ, sit4Δ, and ilm1Δ strains. Data that suggest that oleate inhibition of the growth of a peroxisomal mutant is due to an increase in plasma membrane porosity are presented. We propose that yeast deficient in peroxisomal and other functions are sensitive to oleate perhaps because of an inability to effectively control the fatty acid composition of membrane phospholipids.
The Effect of Genetic Variation of the Retinoic Acid Receptor-Related Orphan Receptor C Gene on Fatness in Cattle
Authors: Barendse W , Bunch R J , Kijas J W , Thomas M B 
Published: December 2006

Abstract
Genotypes at the retinoic acid receptor-related orphan receptor C (RORC) gene were associated with fatness in 1750 cattle. Ten SNPs were genotyped in RORC and the adjacent gene leucine-rich repeat neuronal 6D (LRRN6D) to map the QTL, 7 of which are in a 4.2-kb sequence around the ligand-binding domain of the RORC gene. Of the 29 inferred haplotypes for these SNPs, 2 have a combined frequency of 54.6% while the top 5 haplotypes have a combined frequency of 85.3%. The average D′ value of linkage disequilibrium was 0.92 although the average r2 was a low 0.18. The RORC:g.3290T&gt;G SNP had the strongest association with marbling. The inferred haplotypes were significantly associated with marbling and the difference between the most divergent haplotypes was 0.35 σp of marbling and 0.28 σp of rump fat, explaining the previously reported QTL effect. cDNA for RORC were sequenced and 2 new alternative transcripts were found. Fetal tissue shows 40 times greater transcription of RORC than adult tissue. The highest expression in fetal tissue was found in liver and kidney, but in adults the longissimus muscle had the greatest expression of the tissues tested.
Mutation of a Ubiquitously Expressed Mouse Transmembrane Protein (Tapt1) Causes Specific Skeletal Homeotic Transformations
Authors: Howell Gareth R , Shindo Mami , Murray Stephen , Gridley Thomas , Wilson Lawriston A , Schimenti John C 
Published: December 2006

AbstractL5Jcs1 is a perinatal lethal mutation uncovered in a screen for ENU-induced mutations on mouse chromosome 5. L5Jcs1 homozygotes exhibit posterior-to-anterior transformations of the vertebral column midsection, similar to mice deficient for Hoxc8 and Hoxc9. Positional cloning efforts identified a mutation in a novel, evolutionarily conserved, and ubiquitously expressed gene dubbed Tapt1 (Transmembrane anterior posterior transformation 1). TAPT1 is predicted to contain several transmembrane domains, and part of the gene is orthologous to an unusual alternatively spliced human transcript encoding the cytomegalovirus gH receptor. We speculate that TAPT1 is a downstream effector of HOXC8 that may act by transducing or transmitting extracellular information required for axial skeletal patterning during development.
Functional Roles for β1,4-N-Acetlygalactosaminyltransferase-A in Drosophila Larval Neurons and Muscles
Authors: Haines Nicola , Stewart Bryan A 
Published: December 2006

Abstract
Adult Drosophila mutant for the glycosyltransferase β1,4-N-acetlygalactosaminyltransferase-A (β4GalNAcTA) display an abnormal locomotion phenotype, indicating a role for this enzyme, and the glycan structures that it generates, in the neuromuscular system. To investigate the functional role of this enzyme in more detail, we turned to the accessible larval neuromuscular system and report here that larvae mutant for β4GalNAcTA display distinct nerve and muscle phenotypes. Mutant larvae exhibit abnormal backward crawling, reductions in nerve terminal bouton number, decreased spontaneous transmitter-release frequency, and short, wide muscles. This muscle shape change appears to result from hypercontraction since the individual sarcomeres are shorter in mutant muscles. Analysis of muscle calcium signals showed altered calcium handling in the mutant, suggesting a mechanism by which hypercontraction could occur. All of these phenotypes can be rescued by a transgene carrying the β4GalNAcTA genomic region. Tissue-specific expression, using the Gal4-UAS system, reveals that neural expression rescues the mutant crawling phenotype, while muscle expression rescues the muscle defect. Tissue-specific expression did not appear to rescue the decrease in neuromuscular junction bouton number, suggesting that this defect arises from cooperation between nerve and muscle. Altogether, these results suggest that β4GalNAcTA has at least three distinct functional roles.
Neither Maternal nor Zygotic med-1/med-2 Genes Play a Major Role in Specifying the Caenorhabditis elegans Endoderm
Authors: Captan Vasile V , Goszczynski Barbara , McGhee James D 
Published: December 2006

Abstract
The med-1 and med-2 genes encode small, highly similar proteins related to GATA-type transcription factors and have been proposed as necessary for specification of both the mesoderm and the endoderm of Caenorhabditis elegans. However, we have previously presented evidence that neither maternal nor zygotic expression of the med-1/2 genes is necessary to specify the C. elegans endoderm. Contradicting our conclusions, a recent report presented evidence, based on presumed transgene-induced cosuppression, that the med-1/2 genes do indeed show an endoderm-specifying maternal effect. In this article, we reinvestigate med-2(−); med-1(−) embryos using a med-2- specific null allele instead of the chromosomal deficiences used previously and confirm our previous results: the large majority (∼84%) of med-2(−); med-1(−) embryos express gut granules. We also reinvestigate the possibility of a maternal med-1/2 effect by direct injection of med dsRNA into sensitized (med-deficient) hermaphrodites using the standard protocol known to be effective in ablating maternal transcripts, but again find no evidence for any significant maternal med-1/2 effect. We do, however, show that expression of gut granules in med-1/2-deficient embryos is exquisitely sensitive to RNAi against the vacuolar ATPase-encoding unc-32 gene [present on the same multicopy med-1(+)-containing transgenic balancer used in support of the maternal med-1/2 effect]. We thus suggest that the experimental evidence for a maternal med-1/2 effect should be reexamined and may instead reflect cosuppression caused by multiple transgenic unc-32 sequences, not med sequences.
An Analysis of Univalent Segregation in Meiotic Mutants ofArabidopsis thaliana: A Possible Role for Synaptonemal Complex
Authors: Pradillo Mónica , López Eva , Romero Concepción , Sánchez-Morán Eugenio , Cuñado Nieves , Santos Juan L 
Published: December 2006

AbstractDuring first meiotic prophase, homologous chromosomes are normally kept together by both crossovers and synaptonemal complexes (SC). In most eukaryotes, the SC disassembles at diplotene, leaving chromosomes joined by chiasmata. The correct co-orientation of bivalents at metaphase I and the reductional segregation at anaphase I are facilitated by chiasmata and sister-chromatid cohesion. In the absence of meiotic reciprocal recombination, homologs are expected to segregate randomly at anaphase I. Here, we have analyzed the segregation of homologous chromosomes at anaphase I in four meiotic mutants of Arabidopsis thaliana, spo11-1-3, dsy1, mpa1, and asy1, which show a high frequency of univalents at diplotene. The segregation pattern of chromosomes 2, 4, and 5 was different in each mutant. Homologous univalents segregated randomly in spo11-1-3, whereas they did not in dsy1 and mpa1. An intermediate situation was observed in asy1. Also, we have found a parallelism between this behavior and the synaptic pattern displayed by each mutant. Thus, whereas spo11-1-3 and asy1 showed low amounts of SC stretches, dsy1 and mpa1 showed full synapsis. These findings suggest that in Arabidopsis there is a system, depending on the SC formation, that would facilitate regular disjunction of homologous univalents to opposite poles at anaphase I.
Telomere Dysfunction Drives Increased Mutation by Error-Prone Polymerases Rev1 and ζ in Saccharomyces cerevisiae
Authors: Meyer Damon H , Bailis Adam M 
Published: December 2006

Abstract
Using a model system, we have shown that replicative senescence is accompanied by a 16-fold increase in base substitution and frameshift mutations near a chromosome end. The increase was dependent on error-prone polymerases required for the mutagenic response to DNA lesions that block the replication fork.
Least Chub Reproduction: Effects of Density, Sex Ratio, and Spawning Substrate Transfer Frequency
Authors: Billman Eric J , Wagner Eric J , Arndt Ronney E 
Published: December 2006

Abstract
The least chub Iotichthys phlegethontis, a small cyprinid endemic to Bonneville Basin, Utah, is at risk of becoming a threatened species in Utah. Captive propagation has become necessary to preserve genetically distinct populations and to produce specimens for reintroduction. We conducted two spawning studies to develop intensive aquaculture techniques for the least chub. In the two studies, 162 adults (78 females) produced a total of 12,492 fry. Adult broodstock density (0.03–0.20 fish/L), male : Female sex ratio (1:1, 1:2, and 2:1), and spawning substrate transfer frequency (one versus two times per week) did not significantly affect production. In the second study, female mortality was significantly different between treatments, as more female mortalities occurred in tanks with one spawning substrate transfer per week than in tanks with two such transfers. Single females paired with single males produced multiple clutches at 2- to 3-week intervals. The relationship between fry production and female body size (g) appeared to be positive and linear between 1.0 and 2.2 g but was unclear for larger fish.
Adult Returns of Volitionally Migrating and Pond-Sedentary Hatchery-Reared Steelhead Smolts
Authors: Tipping Jack M 
Published: December 2006

Abstract
Adult return rates of steelhead Oncorhynchus mykiss that volitionally emigrated as smolts were compared with those of pond-sedentary juveniles forced from a raceway after being allowed 6 weeks of volitional migration opportunity. In 5 years of releases, an average of 7.2% of the smolts remained in the raceway after the volitional migration opportunity. Adult returns of volitional and pond-sedentary fish were statistically similar in all but 1 year of release; in that year, pond-sedentary returns were significantly greater than those from the volitional release. The results suggest that pond-sedentary juvenile steelhead should not be destroyed or placed in nonanadromous waters out of concern for poor adult survival.
Comparative Fatty Acid Composition of Eggs from White Bass Fed Live Food or Commercial Feed
Authors: Lane Ryan L , Kohler Christopher C 
Published: December 2006

Abstract
We evaluated the influence of two broodstock feeding practices on fatty acid composition and viability of eggs in white bass Morone chrysops. The two dietary groups tested were (1) white bass females fed a commercially formulated feed (crude protein, 45%; crude fat, 16%) and (2) white bass females maintained on live food (fathead minnow Pimephales promelas and golden shiners Notemigonus crysoleucas). Significant differences existed between the dietary treatments in egg fatty acid levels. Eggs of white bass fed live food contained more 11-octadecenoic acid (18:1[n-7]), α-linolenic acid (18:3[n-3]), arachidonic acid (20:4[n-6]), docosahexaenoic acid (22:6[n-3]), and total n-3 fatty acids than eggs of fish fed formulated feed. Conversely, eggs of fish fed the formulated feed contained more oleic acid (18:1[n-9]), linoleic acid (18:2[n-6]), and total monoeic acids. Female white bass fed live food produced significantly more viable eggs (68.0 ± 2.0%) at 48 ± 2 h posthatch than did females fed the commercial feed (57.0 ± 2.0% [mean ± SD]). We found that the egg fatty acids of white bass are significantly affected by the diet of the female and suggest that the fatty acid composition of eggs contribute to overall reproductive success and viability of progeny. More information on the nutrient requirements of piscivorous broodstock is needed to allow feeds to be formulated to enhance the viability of eggs and fry.
Cinnamic Acid
Authors: Garbe Dorothea 
Published: December 2006

Abstract

The article contains sections titled:

1.

Introduction

2.

Physical Properties

3.

Chemical Properties

4.

Occurrence in Nature

5.

Production

5.1.

Perkin Reaction

5.2.

Claisen Condensation

5.3.

Benzal Chloride Reaction

5.4.

Oxidation of Cinnamaldehyde

5.5.

Preparation of Cinnamic Acid Esters

6.

Uses

7.

Quality Specifications

8.

Economic Aspects

9.

Toxicology
Saponins
Authors: Schwarz Michael W. 
Published: December 2006

AbstractThe article contains sections titled:1.Introduction1.1.General Properties1.2.Distribution1.3.Isolation1.4.Structure Elucidation1.5.Analysis2.Pharmacology3.Plant Saponins3.1.Steroid Saponins3.2.Glycoalkaloids3.3.Triterpene Saponins4.Animal Saponins4.1.Asterosaponins4.2.Holothurins
Thiocyanates and Isothiocyanates, Organic
Authors: Romanowski Frank , Klenk Herbert 
Published: December 2006

AbstractThe article contains sections titled:1.Organic Thiocyanates1.1.Introduction1.2.Physical Properties1.3.Chemical Properties1.4.Production1.5.Use and Commercial Names1.6.Toxicology2.Organic Isothiocyanates2.1.Introduction2.2.Physical Properties2.3.Chemical Properties2.4.Production2.5.Quality Specifications and Analysis2.6.Storage and Transport2.7.Commercial Names2.8.Uses2.8.1.Methyl Isothiocyanate2.8.2.Other Organic Isothiocyanates2.9.Toxicology and Industrial Hygiene2.10.Safety Measures and Processing Advice2.11.Ecological Aspects
Xylidines
Authors: Meyer Michael 
Published: December 2006

AbstractThe article contains sections titled:1.Introduction2.Physical Properties3.Chemical Properties4.Industrial Production4.1.Reduction of Nitroxylenes4.2.Amination of Xylenols4.3.Other Processes5.Quality Specifications, Storage, and Transport6.Use6.1.Dye Production6.2.Plant Protection6.3.Production of Pharmaceutical Products, Pharmaceutical Products for Veterinary Medicine, and Vitamins6.4.Other Uses7.Toxicology
Stirring
Authors: Zlokarnik Marko 
Published: December 2006

AbstractThe article contains sections titled:1.Stirring Operations, Stirring Vessels, and Stirrer Types1.1.Stirring Operations1.2.Stirring Vessels and Auxiliary Equipment1.3.Operation of Individual Types of Stirrers1.4.Mechanical Stress Exerted by the Stirrer2.Homogenization of Liquid Mixtures2.1.Problem Definition2.2.Mixing‐Time Characteristic2.2.1.Definition and Measurement Method2.2.2.Mixing‐Time Characteristic at Δϱ ≃ 0 and Δν ≃ 02.2.3.Mixing‐Time Characteristic at Δϱ ≠ 0 and Δν ≠ 02.2.4.Mixing‐Time Characteristics in Non‐Newtonian Liquids2.3.Power Characteristic2.3.1.Definition and Measurement Method2.3.2.Power Characteristics in Homogeneous Systems2.4.Optimization: Minimum Work of Mixing2.5.Homogenization in Storage Tanks2.6.Liquid Throughput of Stirrers2.7.Vortex Depth in Unbaffled Stirred Tanks3.Intensification of Heat Transfer3.1.Problem Definition3.2.Heat‐Transfer Characteristics3.2.1.Definitions3.2.2.Heat‐Transfer Characteristics in the Range Re > 2003.2.3.Heat‐Transfer Characteristics in the Range Re < 2003.3.Stirrer Power During Heat Transfer3.4.Optimum Stirring Conditions for the Removal of Reaction Heat4.Suspension of Solids in Liquids (S/L Systems)4.1.Problem Definition4.2.Classification of the Suspension Conditions4.3.Suspension Characteristic4.3.1.Suspension Characteristics withdpas the Characteristic Particle Dimension4.3.2.Suspension Characteristics withwssas the Characteristic Particle Property4.4.Power Requirements Upon Suspension of Solids4.5.Scale‐up of the Solids Suspension Process4.6.Effect of Geometric and Apparatus‐Related Factors on the Suspension4.7.Mass Transfer in the Solid ‐ Liquid (S/L) System5.Dispersion in Liquid ‐ Liquid (L/L) Systems5.1.Lowest Stirrer Speed for Dispersion5.2.Dispersion Characteristics5.3.Stirrer Power for Dispersion5.4.Scale‐Up of the Dispersion Processes5.5.Mass and Heat Transfer Upon Dispersion6.Dispersion in Gas ‐ Liquid (G/L) Systems6.1.Physical Fundamentals of Mass Transfer6.2.Mass‐Transfer Characteristics in the G/L System6.2.1.Sorption Characteristics in Coalescence‐Bound Systems (Water)6.2.2.Sorption Characteristics in Coalescence‐Inhibited Systems6.2.3.Sorption Characteristics in Non‐Newtonian Material Systems6.3.Stirrer Power in Gassed Liquids6.4.Flooding Point6.5.Special Gas ‐ Liquid Contacting Techniques6.5.1.Hollow Stirrers6.5.2.Surface Aerators6.5.3.Gas Spargers and Injectors
Structure Analysis by Diffraction
Authors: Paulus Erich F. , Gieren Alfred 
Published: December 2006

AbstractThe article contains sections titled:1.General Principles2.Structure Analysis of Solids2.1.Diffraction by Crystal Lattices2.1.1.Materials and Methods2.1.2.Introduction to X‐Ray Crystallography; History2.1.3.Experimental Principles, Applications2.1.4.Crystal Growth for X‐Ray Structure Analysis2.1.5.X‐Rays, Neutrons, and Electrons2.1.6.Cameras and Diffractometers2.1.7.Safety2.1.8.Instrument Manufacturers2.2.The Phase Problem2.2.1.Patterson (Vector) Methods2.2.2.Direct Methods2.2.3.Trial‐and‐Error Method, R Test2.2.4.Experimental Phase Determination2.3.Least‐Squares Refinement2.4.Determination of Absolute Configuration2.5.Example of a Single‐Crystal X‐Ray Structure Analysis Solved by Direct Methods2.6.Diffraction by Polycrystalline Specimens2.6.1.General Considerations2.6.2.Qualitative and Quantitative Analyses of Powder Specimens2.6.3.Solid Solutions2.6.4.Rietveld Method2.6.5.Texture2.7.Crystallographic Databanks2.8.Noncrystallinity2.8.1.Crystal Quality Analysis2.8.2.Crystallite Size2.8.3.Defects2.8.4.X‐Ray Crystallinity2.8.5.Elastic Stress2.8.6.Radial Electron Density Distribution3.Synchrotron Radiation4.Neutron Diffraction5.Electron Diffraction5.1.Diffraction in the Electron Microscope5.2.Electron Diffraction in the Gas Phase6.Future Developments
Superabsorbents
Authors: Frank Markus 
Published: December 2006

AbstractThe article contains sections titled:1.Introduction2.Definition3.Theory of Polyelectrolyte Networks3.1.Elasticity3.2.Swelling3.3.Phase Transition4.Chemistry and Production of Superabsorbents4.1.Raw Materials4.2.Radical Solution Polymerization4.2.1.Principles4.2.2.Production Processes4.3.Inverse Suspension Polymerization4.4.Surface Treatment5.Properties, Characterization, and Analysis5.1.Absorption Capacity5.2.Shear Modulus5.3.Kinetics of Absorption5.4.Swelling under Load5.5.Permeability5.6.Test Methods5.7.Stability of Superabsorbents6.Uses6.1.Personal Hygiene Products6.1.1.Diapers6.1.2.Feminine Hygiene Products6.2.Packaging Applications6.3.Soil Conditioners6.4.Cable Applications6.5.Civil Engineering and Construction6.6.Other Applications7.Other Forms of Superabsorbent Polymers7.1.Fibers7.2.Foams and Films8.Environmental Aspects and Toxicology9.Economic Aspects
Severe β0 thalassemia/hemoglobin E disease caused by de novo 22‐base pair duplication in the paternal allele of β globin gene
Authors: Rojnuckarin Ponlapat , Settapiboon Rung , Vanichsetakul Preeda , Sueblinvong Tada , Sutcharitchan Pranee 
Published: December 2006

Abstractβ Thalassemia is a major public health concern in Southeast Asia. A prevention program has been implemented in Thailand comprising mass carrier screening and genetic testing. In this study, a Thai girl with severe β thalassemia/hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father. DNA sequencing revealed novel 22‐bp tandem duplication in the paternal allele of β globin gene, producing a severely truncated product. A short recurring nucleotide at the insertion site suggested a predisposition to this mutation. Therefore, spontaneous β globin mutations occasionally occur in normal population. Its clinical significance is noteworthy in countries with high prevalence of β thalassemia. Am. J. Hematol 2007. © 2006 Wiley‐Liss, Inc.