bluuebunny/crossref_metadata_2025_split huggingface dataset:
Divergence of the Hyperthermophilic Archaea Pyrococcus furiosus and P. horikoshii Inferred From Complete Genomic Sequences
Authors: Maeder Dennis L , Weiss Robert B , Dunn Diane M , Cherry Joshua L , González Juan M , DiRuggiero Jocelyne , Robb Frank T 
Published: April 2021

Abstract
Divergence of the hyperthermophilic Archaea, Pyrococcus furiosus and Pyrococcus horikoshii, was assessed by analysis of complete genomic sequences of both species. The average nucleotide identity between the genomic sequences is 70-75% within ORFs. The P. furiosus genome (1.908 mbp) is 170 kbp larger than the P. horikoshii genome (1.738 mbp) and the latter displays significant deletions in coding regions, including the trp, his, aro, leu-ile-val, arg, pro, cys, thr, and mal operons. P. horikoshii is auxotrophic for tryptophan and histidine and is unable to utilize maltose, unlike P. furiosus. In addition, the genomes differ considerably in gene order, displaying displacements and inversions. Six allelic intein sites are common to both Pyrococcus genomes, and two intein insertions occur in each species and not the other. The bacteria-like methylated chemotaxis proteins form a functional group in P. horikoshii, but are absent in P. furiosus. Two paralogous families of ferredoxin oxidoreductases provide evidence of gene duplication preceding the divergence of the Pyrococcus species.
Genetics of Nitrogen Regulation in Methanococcus maripaludis
Authors: Kessler Peter S , Leigh John A 
Published: April 2021

Abstract
We have used genetic methods in Methanococcus maripaludis to study nitrogen metabolism and its regulation. We present evidence for a “nitrogen regulon” in Methanococcus and Methanobacterium species containing genes of nitrogen metabolism that are regulated coordinately at the transcriptional level via a common repressor binding site sequence, or operator. The implied mechanism for regulation resembles the general bacterial paradigm for repression, but contrasts with well-known mechanisms of nitrogen regulation in bacteria, which occur by activation. Genes in the nitrogen regulons include those for nitrogen fixation, glutamine synthetase, (methyl)ammonia transport, the regulatory protein GlnB, and ammonia-dependent NAD synthetase, as well as a gene of unknown function. We also studied the function of two novel GlnB homologues that are encoded within the nif gene cluster of diazotrophic methanogens. The phenotype resulting from a glnB null mutation in M. maripaludis provides direct evidence that glnB-like genes are involved in “ammonia switch-off,” the post-transcriptional inhibition of nitrogen fixation upon addition of ammonia. Finally, we show that the gene nifX is not required for nitrogen fixation, in agreement with findings in several bacteria. These studies illustrate the utility of genetic methods in M. maripaludis and show the enhanced perspective that studies in the Archaea can bring to known biological systems.
Substrate Requirements for a Novel Archaeal Endonuclease That Cleaves Within the 5′ External Transcribed Spacer of Sulfolobus acidocaldarius Precursor rRNA
Authors: Russell Anthony G , Ebhardt Holger , Dennis Patrick P 
Published: April 2021

Abstract
During ribosome biogenesis in the hyperthermophilic archaeon Sulfolobus acidocaldarius, at least three separate precursor endonucleolytic cleavages occur within the 144-nucleotide-long 5′ external transcribed spacer (5′ ETS) region of the rRNA operon primary transcript. The 5′ ETS sequence contains three regions of very stable helical structure. One cleavage (5′ to position -98) is in the single-stranded region between the 5′ and the central helical domains; a second cleavage (5′ to position -31) is in the single-stranded region between the central and the 3′ helical domains; and a third cleavage is at the 5′ ETS-16S junction (5′ to position +1). The three sites share a common consensus sequence around the position of cleavage. We have used an in vitro pre-RNA processing assay to define some of the sequence and structural recognition elements necessary for the two precursor cleavages 5′ to positions -98 and -31. Surprisingly, none of the three predominant helical domains are required for recognition or targeting of the cleavages, although their removal reduces the rate of cleavage site utilization. We show that the sequence AAG ↓ (CA)UU encompassing each site contains at least some of the essential features for recognition and efficient targeting of the cleavages. Cleavage depends on the presence of a purine 5′ and a uracil two nucleotides 3′ to the scissile phosphodiester bond. Mutations to other bases at these critical positions are either not cleaved or cleaved very poorly. Finally, on the basis of intermediates that are produced during a processing reaction, we can conclude that the cleavages at positions 98 and 31 are not ordered in vitro.
Expression Vectors for Methanococcus maripaludis: Overexpression of Acetohydroxyacid Synthase and β-Galactosidase
Authors: Gardner Warren L , Whitman William B 
Published: April 2021

Abstract
A series of integrative and shuttle expression vectors was developed for use in Methanococcus maripaludis. The integrative expression vectors contained the Methanococcus voltae histone promoter and multiple cloning sites designed for efficient cloning of DNA. Upon transformation, they can be used to overexpress specific homologous genes in M. maripaludis. When tested with ilvBN, which encodes the large and small subunits of acetohydroxyacid synthase, transformants possessed specific activity 13-fold higher than that of the wild type. An expression shuttle vector, based on the cryptic plasmid pURB500 and the components of the integrative vector, was also developed for the expression of heterologous genes in M. maripaludis. The β-galactosidase gene from Escherichia coli was expressed to ∼1% of the total cellular protein using this vector. During this work, the genes for the acetohydroxyacid synthase (ilvBN) and phosphoenolpyruvate synthase (ppsA) were sequenced from a M. maripaludis genomic library.
Detection of Quantitative Trait Loci for Backfat Thickness and Intramuscular Fat Content in Pigs (Sus scrofa)
Authors: de Koning Dirk J , Janss Luc L G , Rattink Annemieke P , van Oers Pieter A M , de Vries Beja J , Groenen Martien A M , van der Poel Jan J , de Groot Piet N , Brascamp E W (Pim) , van Arendonk Johan A M 
Published: April 2021

Abstract
In an experimental cross between Meishan and Dutch Large White and Landrace lines, 619 F2 animals and their parents were typed for molecular markers covering the entire porcine genome. Associations were studied between these markers and two fatness traits: intramuscular fat content and backfat thickness. Association analyses were performed using interval mapping by regression under two genetic models: (1) an outbred line-cross model where the founder lines were assumed to be fixed for different QTL alleles; and (2) a half-sib model where a unique allele substitution effect was fitted within each of the 19 half-sib families. Both approaches revealed for backfat thickness a highly significant QTL on chromosome 7 and suggestive evidence for a QTL at chromosome 2. Furthermore, suggestive QTL affecting backfat thickness were detected on chromosomes 1 and 6 under the line-cross model. For intramuscular fat content the line-cross approach showed suggestive evidence for QTL on chromosomes 2, 4, and 6, whereas the half-sib analysis showed suggestive linkage for chromosomes 4 and 7. The nature of the QTL effects and assumptions underlying both models could explain discrepancies between the findings under the two models. It is concluded that both approaches can complement each other in the analysis of data from outbred line crosses.
A Scan for Linkage Disequilibrium Across the Human Genome
Authors: Huttley Gavin A , Smith Michael W , Carrington Mary , O’Brien Stephen J 
Published: April 2021

AbstractLinkage disequilibrium (LD), the tendency for alleles of linked loci to co-occur nonrandomly on chromosomal haplotypes, is an increasingly useful phenomenon for (1) revealing historic perturbation of populations including founder effects, admixture, or incomplete selective sweeps; (2) estimating elapsed time since such events based on time-dependent decay of LD; and (3) disease and phenotype mapping, particularly for traits not amenable to traditional pedigree analysis. Because few descriptions of LD for most regions of the human genome exist, we searched the human genome for the amount and extent of LD among 5048 autosomal short tandem repeat polymorphism (STRP) loci ascertained as specific haplotypes in the European CEPH mapping families. Evidence is presented indicating that ∼4% of STRP loci separated by &lt;4.0 cM are in LD. The fraction of locus pairs within these intervals that display small Fisher’s exact test (FET) probabilities is directly proportional to the inverse of recombination distance between them (1/cM). The distribution of LD is nonuniform on a chromosomal scale and in a marker density-independent fashion, with chromosomes 2, 15, and 18 being significantly different from the genome average. Furthermore, a stepwise (locus-by-locus) 5-cM sliding-window analysis across 22 autosomes revealed nine genomic regions (2.2-6.4 cM), where the frequency of small FET probabilities among loci was greater than or equal to that presented by the HLA on chromosome 6, a region known to have extensive LD. Although the spatial heterogeneity of LD we detect in Europeans is consistent with the operation of natural selection, absence of a formal test for such genomic scale data prevents eliminating neutral processes as the evolutionary origin of the LD.
The Berkeley Drosophila Genome Project Gene Disruption Project: Single P-Element Insertions Mutating 25% of Vital Drosophila Genes
Authors: Spradling Allan C , Stern Dianne , Beaton Amy , Rhem E Jay , Laverty Todd , Mozden Nicole , Misra Sima , Rubin Gerald M 
Published: April 2021

Abstract
A fundamental goal of genetics and functional genomics is to identify and mutate every gene in model organisms such as Drosophila melanogaster. The Berkeley Drosophila Genome Project (BDGP) gene disruption project generates single P-element insertion strains that each mutate unique genomic open reading frames. Such strains strongly facilitate further genetic and molecular studies of the disrupted loci, but it has remained unclear if P elements can be used to mutate all Drosophila genes. We now report that the primary collection has grown to contain 1045 strains that disrupt more than 25% of the estimated 3600 Drosophila genes that are essential for adult viability. Of these P insertions, 67% have been verified by genetic tests to cause the associated recessive mutant phenotypes, and the validity of most of the remaining lines is predicted on statistical grounds. Sequences flanking &gt;920 insertions have been determined to exactly position them in the genome and to identify 376 potentially affected transcripts from collections of EST sequences. Strains in the BDGP collection are available from the Bloomington Stock Center and have already assisted the research community in characterizing &gt;250 Drosophila genes. The likely identity of 131 additional genes in the collection is reported here. Our results show that Drosophila genes have a wide range of sensitivity to inactivation by P elements, and provide a rationale for greatly expanding the BDGP primary collection based entirely on insertion site sequencing. We predict that this approach can bring &gt;85% of all Drosophila open reading frames under experimental control.
An Exploration of the Sequence of a 2.9-Mb Region of the Genome of Drosophila melanogaster: The Adh Region
Authors: Ashburner M , Misra S , Roote J , Lewis S E , Blazej R , Davis T , Doyle C , Galle R , George R , Harris N , Hartzell G , Harvey D , Hong L , Houston K , Hoskins R , Johnson G , Martin C , Moshrefi A , Palazzolo M , Reese M G , Spradling A , Tsang G , Wan K , Whitelaw K , Kimmel B , Celniker S , Rubin G M 
Published: April 2021

AbstractA contiguous sequence of nearly 3 Mb from the genome of Drosophila melanogaster has been sequenced from a series of overlapping P1 and BAC clones. This region covers 69 chromosome polytene bands on chromosome arm 2L, including the genetically well-characterized “Adh region.” A computational analysis of the sequence predicts 218 protein-coding genes, 11 tRNAs, and 17 transposable element sequences. At least 38 of the protein-coding genes are arranged in clusters of from 2 to 6 closely related genes, suggesting extensive tandem duplication. The gene density is one protein-coding gene every 13 kb; the transposable element density is one element every 171 kb. Of 73 genes in this region identified by genetic analysis, 49 have been located on the sequence; P-element insertions have been mapped to 43 genes. Ninety-five (44%) of the known and predicted genes match a Drosophila EST, and 144 (66%) have clear similarities to proteins in other organisms. Genes known to have mutant phenotypes are more likely to be represented in cDNA libraries, and far more likely to have products similar to proteins of other organisms, than are genes with no known mutant phenotype. Over 650 chromosome aberration breakpoints map to this chromosome region, and their nonrandom distribution on the genetic map reflects variation in gene spacing on the DNA. This is the first large-scale analysis of the genome of D. melanogaster at the sequence level. In addition to the direct results obtained, this analysis has allowed us to develop and test methods that will be needed to interpret the complete sequence of the genome of this species.
Genomic Organization of the S Locus: Identification and Characterization of Genes in SLG/SRK Region of S9 Haplotype of Brassica campestris (syn. rapa)
Authors: Suzuki Go , Kai Naoko , Hirose Tamaki , Fukui Kiichi , Nishio Takeshi , Takayama Seiji , Isogai Akira , Watanabe Masao , Hinata Kokichi 
Published: April 2021

Abstract
In Brassica, two self-incompatibility genes, encoding SLG (S locus glycoprotein) and SRK (S-receptor kinase), are located at the S locus and expressed in the stigma. Recent molecular analysis has revealed that the S locus is highly polymorphic and contains several genes, i.e., SLG, SRK, the as-yet-unidentified pollen S gene(s), and other linked genes. In the present study, we searched for expressed sequences in a 76-kb SLG/SRK region of the S9 haplotype of Brassica campestris (syn. rapa) and identified 10 genes in addition to the four previously identified (SLG9, SRK9, SAE1, and SLL2) in this haplotype. This gene density (1 gene/5.4 kb) suggests that the S locus is embedded in a gene-rich region of the genome. The average G + C content in this region is 32.6%. An En/Spm-type transposon-like element was found downstream of SLG9. Among the genes we identified that had not previously been found to be linked to the S locus were genes encoding a small cysteine-rich protein, a J-domain protein, and an antisilencing protein (ASF1) homologue. The small cysteine-rich protein was similar to a pollen coat protein, named PCP-A1, which had previously been shown to bind SLG.
Arabidopsis PAI Gene Arrangements, Cytosine Methylation and Expression
Authors: Melquist Stacey , Luff Bradley , Bender Judith 
Published: April 2021

AbstractPrevious analysis of the PAI tryptophan biosynthetic gene family in Arabidopsis thaliana revealed that the Wassilewskija (WS) ecotype has four PAI genes at three unlinked sites: a tail-to-tail inverted repeat at one locus (PAI1-PAI4) plus singlet genes at two other loci (PAI2 and PAI3). The four WS PAI genes are densely cytosine methylated over their regions of DNA identity. In contrast, the Columbia (Col) ecotype has three singlet PAI genes at the analogous loci (PAI1, PAI2, and PAI3) and no cytosine methylation. To understand the mechanism of PAI gene duplication at the polymorphic PAI1 locus, and to investigate the relationship between PAI gene arrangement and PAI gene methylation, we analyzed 39 additional ecotypes of Arabidopsis. Six ecotypes had PAI arrangements similar to WS, with an inverted repeat and dense PAI methylation. All other ecotypes had PAI arrangements similar to Col, with no PAI methylation. The novel PAI-methylated ecotypes provide insights into the mechanisms underlying PAI gene duplication and methylation, as well as the relationship between methylation and gene expression.
Analysis and Mapping of Gene Families Encoding β-1,3-Glucanases of Soybean
Authors: Jin Wei , Horner Harry T , Palmer Reid G , Shoemaker Randy C 
Published: April 2021

Abstract
Oligonucleotide primers designed for conserved sequences from coding regions of β-1,3-glucanase genes from different species were used to amplify related sequences from soybean [Glycine max (L.) Merr.]. Sequencing and cross-hybridization of amplification products indicated that at least 12 classes of β-1,3-glucanase genes exist in the soybean. Members of classes mapped to 34 loci on five different linkage groups using an F2 population of 56 individuals. β-1,3-Glucanase genes are clustered onto regions of five linkage groups. Data suggest that more closely related genes are clustered together on one linkage group or on duplicated regions of linkage groups. Northern blot analyses performed on total RNA from root, stem, leaf, pod, flower bud, and hypocotyl using DNA probes for the different classes of β-1,3-glucanase genes revealed that the mRNA levels of all classes were low in young leaves. SGlu2, SGlu4, SGlu7, and SGlu12 mRNA were highly accumulated in young roots and hypocotyls. SGlu7 mRNA also accumulated in pods and flower buds.
Centromere Mapping Functions for Aneuploid Meiotic Products: Analysis of rec8, rec10 and rec11 Mutants of the Fission Yeast Schizosaccharomyces pombe
Authors: Krawchuk Michelle D , Wahls Wayne P 
Published: April 2021

Abstract
Recent evidence suggests that the position of reciprocal recombination events (crossovers) is important for the segregation of homologous chromosomes during meiosis I and sister chromatids during meiosis II. We developed genetic mapping functions that permit the simultaneous analysis of centromere-proximal crossover recombination and the type of segregation error leading to aneuploidy. The mapping functions were tested in a study of the rec8, rec10, and rec11 mutants of fission yeast. In each mutant we monitored each of the three chromosome pairs. Between 38 and 100% of the chromosome segregation errors in the rec8 mutants were due to meiosis I nondisjunction of homologous chromosomes. The remaining segregation errors were likely the result of precocious separation of sister chromatids, a previously described defect in the rec8 mutants. Between 47 and 100% of segregation errors in the rec10 and rec11 mutants were due to nondisjunction of sister chromatids during meiosis II. In addition, centromere-proximal recombination was reduced as much as 14-fold or more on chromosomes that had experienced nondisjunction. These results demonstrate the utility of the new mapping functions and support models in which sister chromatid cohesion and crossover position are important determinants for proper chromosome segregation in each meiotic division.
Expected Genetic Contributions and Their Impact on Gene Flow and Genetic Gain
Authors: Woolliams J A , Bijma P , Villanueva B 
Published: April 2021

Abstract
Long-term genetic contributions (ri) measure lasting gene flow from an individual i. By accounting for linkage disequilibrium generated by selection both within and between breeding groups (categories), assuming the infinitesimal model, a general formula was derived for the expected contribution of ancestor i in category q (μi(q)), given its selective advantages (si(q)). Results were applied to overlapping generations and to a variety of modes of inheritance and selection indices. Genetic gain was related to the covariance between ri and the Mendelian sampling deviation (ai), thereby linking gain to pedigree development. When si(q) includes ai, gain was related to E[μi(q)ai], decomposing it into components attributable to within and between families, within each category, for each element of si(q). The formula for μi(q) was consistent with previous index theory for predicting gain in discrete generations. For overlapping generations, accurate predictions of gene flow were obtained among and within categories in contrast to previous theory that gave qualitative errors among categories and no predictions within. The generation interval was defined as the period for which μi(q), summed over all ancestors born in that period, equaled 1. Predictive accuracy was supported by simulation results for gain and contributions with sib-indices, BLUP selection, and selection with imprinted variation.
Sex and Adaptation in a Changing Environment
Authors: Waxman David , Peck Joel R 
Published: April 2021

Abstract
In this study we consider a mathematical model of a sexual population that lives in a changing environment. We find that a low rate of environmental change can produce a very large increase in genetic variability. This may help to explain the high levels of heritability observed in many natural populations. We also study asexuality and find that a modest rate of environmental change can be very damaging to an asexual population, while leaving a sexual population virtually unscathed. Furthermore, in a changing environment, the advantages of sexuality over asexuality can be much greater than suggested by most previous studies. Our analysis applies in the case of very large populations, where stochastic forces may be neglected.
Evolution of Genetic Variability and the Advantage of Sex and Recombination in Changing Environments
Authors: Bürger Reinhard 
Published: April 2021

Abstract
The role of recombination and sexual reproduction in enhancing adaptation and population persistence in temporally varying environments is investigated on the basis of a quantitative-genetic multilocus model. Populations are finite, subject to density-dependent regulation with a finite growth rate, diploid, and either asexual or randomly mating and sexual with or without recombination. A quantitative trait is determined by a finite number of loci at which mutation generates genetic variability. The trait is under stabilizing selection with an optimum that either changes at a constant rate in one direction, exhibits periodic cycling, or fluctuates randomly. It is shown by Monte Carlo simulations that if the directional-selection component prevails, then freely recombining populations gain a substantial evolutionary advantage over nonrecombining and asexual populations that goes far beyond that recognized in previous studies. The reason is that in such populations, the genetic variance can increase substantially and thus enhance the rate of adaptation. In nonrecombining and asexual populations, no or much less increase of variance occurs. It is explored by simulation and mathematical analysis when, why, and by how much genetic variance increases in response to environmental change. In particular, it is elucidated how this change in genetic variance depends on the reproductive system, the population size, and the selective regime, and what the consequences for population persistence are.