bluuebunny/crossref_metadata_2025_split huggingface dataset:
TEMPERATURE-SENSITIVE LETHAL MUTATIONS ON YEAST CHROMOSOME I APPEAR TO DEFINE ONLY A SMALL NUMBER OF GENES
Authors: Kaback David B , Oeller Paul W , Steensma H Yde , Hirschman Janet , Ruezinsky Diane , Coleman Kevin G , Pringle John R 
Published: January 2021

ABSTRACT
A method was developed for isolating large numbers of mutations on chromosome I of the yeast Saccharomyces cerevisiae. A strain monosomic for chromosome I (i.e., haploid for chromosome I and diploid for all other chromosomes) was mutagenized with either ethyl methanesulfonate or N-methyl-N'-nitro-N -nitrosoguanidine and screened for temperature-sensitive (Ts-) mutants capable of growth on rich, glucose-containing medium at 25° but not at 37°. Recessive mutations induced on chromosome I are expressed, whereas those on the diploid chromosomes are usually not expressed because of the presence of wild-type alleles on the homologous chromosomes. Dominant ts mutations on all chromosomes should also be expressed, but these appeared rarely. — Of the 41 ts mutations analyzed, 32 mapped on chromosome I. These 32 mutations fell into only three complementation groups, which proved to be the previously described genes CDC15, CDC24 and PYK1 (or CDC19). We recovered 16 or 17 independent mutations in CDC15, 12 independent mutations in CDC24 and three independent mutations in PYK1. A fourth gene on chromosome I, MAK16, is known to be capable of giving rise to a ts-lethal allele, but we recovered no mutations in this gene. The remaining nine mutations isolated using the monosomic strain appeared not to map on chromosome I and were apparently expressed in the original mutants because they had become homozygous or hemizygous by mitotic recombination or chromosome loss. — The available information about the size of chromosome I suggests that it should contain approximately 60-100 genes. However, our isolation in the monosomic strain of multiple, independent alleles of just three genes suggests that only a small proportion of the genes on chromosome I is easily mutable to give a Ts--lethal phenotype. — During these studies, we located CDC24 on chromosome I and determined that it is centromere distal to PYK1 on the left arm of the chromosome.
ETHYLNITROSOUREA MUTAGENESIS AND THE ISOLATION OF MUTANT ALLELES FOR SPECIFIC GENES LOCATED IN THE t REGION OF MOUSE CHROMOSOME 17
Authors: Bode Vernon C 
Published: January 2021

ABSTRACT
Ethylnitrosourea mutagenesis of spermatogonia in male mice is very efficient and makes it practical to isolate new desired mutant alleles by subsequent progeny screening. This is demonstrated for three genes in the t region of chromosome 17. The first, a mutation designated t-int, interacts with the dominant mutation, T (Brachyury), to produce a tailless mouse. Previously, mutant alleles of the t-int gene were available only in t haplotypes, where they are part of a t chromatin block within which recombination with wild-type chromosomes is inhibited. In addition to t-int, new mutations at the quaking and tufted loci were obtained, as well as at several loci not on chromosome 17, e.g., an X-linked lethal that causes a mottled phenotype in the heterozygote and four new mutant W alleles on chromosome 5. In the experiment, an average of one fertilizing spermatozoan in 1500 was mutant at a given locus and an average of one male in five was able to sire mutants at that locus.
ADDITIVE BY ADDITIVE VARIANCE WITH INBREEDING AND LINKAGE
Authors: Cockerham C Clark 
Published: January 2021

ABSTRACT
Two-locus coancestries, which provide the coefficients of the additive by additive component in the variance and covariance of relatives for a quantitative trait, were formulated generally in terms of two-locus probabilities of identity by descent for combinations of parental and recombinant gametes. Explicit expressions, with linkage, were developed for all relatives of self-fertilization, for selfed and outbred relatives and for full and half sibs from unrelated inbred parents. The relative effect of linkage on the two-locus coancestry decreases rapidly as inbreeding and relatedness of the relatives increase. It was concluded that the error caused by ignoring linkage would probably be small in the estimation of genetic variances or in the projection of selection response with self-fertilization.
ALLELIC NEGATIVE COMPLEMENTATION AT THE ABRUPTEX LOCUS OF DROSOPHILA MELANOGASTER
Authors: Portin Petter 
Published: January 2021

ABSTRACT
The mutations of the Abruptex locus in Drosophila melanogaster fall into three categories. There are recessive lethal alleles and viable alleles. The latter can be divided into suppressors and nonsuppressors of Notch mutations. The recessive lethals are lethal in heterozygous combination with Notch. As a rule the recessive lethals are lethal also in heterozygous combination with the viable alleles. Heterozygous combinations of certain viable alleles are also lethal. In such heterozygotes, one heteroallele is a suppressor of Notch and the other is a nonsuppressor. Other heterozygous combinations of viable alleles are viable and have an Abruptex phenotype. The insertion of the wild allele of the Abruptex locus as an extra dose (carried by a duplication) into the chromosomal complement of the fly fully restores the viability of the otherwise lethal heterozygotes if two viable alleles are involved. The extra wild allele also restores the viability of heterozygotes in which a lethal and a suppressor allele are present. If, however, a lethal and a nonsuppressor are involved, the wild allele only partly restores the viability, and the effect of the wild allele is weakest if two lethal alleles are involved. It seems likely that of the viable alleles the suppressors of Notch are hypermorphic and the nonsuppressors are hypomorphic. The lethal alleles share properties of both types, and are possibly antimorphic mutations. It is suggested that the locus is responsible for a single function which, however, consists of two components. The hypermorphic mutations are defects of the one component and the hypomorphic mutations of the other. In heterozygotes their cumulative action leads to decreased viability. The lethal alleles are supposed to be defects of the function as a whole. The function controlled by the locus might be a regulative function.
SELECTION FOR HIGH ADULT BODY WEIGHT IN DROSOPHILA POPULATIONS WITH DIFFERENT STRUCTURES
Authors: Katz A J , Young S S Y 
Published: January 2021

ABSTRACT
Selection for high adult body weight in Drosophila melanogaster was practiced for 18 generations in three selection lines. These lines were genetically similar and of equal size but different in population structure. One line represented a large mass-selected, random-mating population, while the other two lines simulated large populations that had been subdivided into partial isolates or demes. Mass selection and random mating occurred within each deme. These two subdivided lines were different only in the rate of effective migration among the demes (5% and 10%). Selection intensities of approximately 20% were applied to these populations. A fourth line served as a random mating control. Heritability of adult body weight in the base population was estimated to be 0.58± 0.22. The results indicate that significantly greater responses were achieved in the subdivided lines than in the large mass-selected line, in spite of the fact that larger selection differentials were applied to the latter. No significant differences in response were observed between the two subdivided lines. Wright (1930, 1931) postulated that selection would be most efficient in subdivided populations with limited interdeme migration. The present findings appear to support this theory.
Adaptive gene misregulation
Authors: Wagner Andreas 
Published: January 2021

Abstract
Because gene expression is important for evolutionary adaptation, its misregulation is an important cause of maladaptation. A misregulated gene can be incorrectly silent (“off”) when a transcription factor (TF) that is required for its activation does not binds its regulatory region. Conversely, a misregulated gene can be incorrectly active (“on”) when a TF not normally involved in its activation binds its regulatory region, a phenomenon also known as regulatory crosstalk. DNA mutations that destroy or create TF binding sites on DNA are an important source of misregulation and crosstalk. Although misregulation reduces fitness in an environment to which an organism is well-adapted, it may become adaptive in a new environment. Here, I derive simple yet general mathematical expressions that delimit the conditions under which misregulation can be adaptive. These expressions depend on the strength of selection against misregulation, on the fraction of DNA sequence space filled with TF binding sites, and on the fraction of genes that must be expressed for optimal adaptation. I then use empirical data from RNA sequencing, protein-binding microarrays, and genome evolution, together with population genetic simulations to ask when these conditions are likely to be met. I show that they can be met under realistic circumstances, but these circumstances may vary among organisms and environments. My analysis provides a framework in which improved theory and data collection can help us demonstrate the role of misregulation in adaptation. It also shows that misregulation, like DNA mutation, is one of life’s many imperfections that can help propel Darwinian evolution.
The Association Between Light Physical Activity and Cognition Among Adults: A Scoping Review
Authors: Erlenbach Emily , McAuley Edward , Gothe Neha P 
Published: January 2021

Abstract

Background
The physical and cognitive benefits of moderate-vigorous intensity physical activity (MVPA) for adults have been well documented. Recently, there has been increasing interest in the independent health benefits of light-intensity physical activity (LPA). This research has primarily focused on the relationship between LPA and morbidity and mortality risk, with few studies investigating cognitive associations. The purpose of this scoping review was to catalog existing evidence on the association between device-based or technologically measured LPA and cognition among adults, identify trends in the literature, and recommend future areas for research.

Methods
Six electronic databases were searched between January and June 2020. Forty published studies met the inclusion criteria, which included both healthy and clinical young and older adult populations. Among the 40 articles were 14 acute exercise studies, 4 randomized control trials (RCTs), 18 cross-sectional studies, and 4 longitudinal studies.

Results
7/14 (50%) acute, 3/4 (75%) RCT, 10/18 (56%) cross-sectional, and 2/4 (50%) longitudinal studies reported a significant, positive relationship between LPA and one or more cognitive outcomes. These heterogeneous findings can largely be attributed to the diverse study designs and populations, as well as the numerous assessments used to test the cognitive domains.

Conclusion
These collective findings suggest LPA may be a potential lifestyle intervention to improve cognition across adulthood. However, the inconsistent approaches used among these studies suggest a more concerted, unified scientific approach is needed to further understand the LPA-cognition relationship.
Significantly improving the quality of genome assemblies through curation
Authors: Howe Kerstin , Chow William , Collins Joanna , Pelan Sarah , Pointon Damon-Lee , Sims Ying , Torrance James , Tracey Alan , Wood Jonathan 
Published: January 2021

AbstractGenome sequence assemblies provide the basis for our understanding of biology. Generating error-free assemblies is therefore the ultimate, but sadly still unachieved goal of a multitude of research projects. Despite the ever-advancing improvements in data generation, assembly algorithms and pipelines, no automated approach has so far reliably generated near error-free genome assemblies for eukaryotes. Whilst working towards improved datasets and fully automated pipelines, assembly evaluation and curation is actively used to bridge this shortcoming and significantly reduce the number of assembly errors. In addition to this increase in product value, the insights gained from assembly curation are fed back into the automated assembly strategy and contribute to notable improvements in genome assembly quality. We describe our tried and tested approach for assembly curation using gEVAL, the genome evaluation browser. We outline the procedures applied to genome curation using gEVAL and also our recommendations for assembly curation in a gEVAL-independent context to facilitate the uptake of genome curation in the wider community.
Fighting for black stone: extractive conflict, institutional change and peacebuilding in Sierra Leone
Authors: Johnson Mckenzie F 
Published: January 2021

Abstract
Environmental governance reform—especially in the minerals sector—has featured prominently in Sierra Leone's peacebuilding agenda. While reform has enhanced environmental governance capacity in ways that foster peace, it has also exacerbated conflict over the redistribution of extractive rights. This article examines one such conflict over tantalite in northern Sierra Leone. In the chiefdom of Sella Limba, violence erupted as local landowners and a multinational company utilized institutional hybridity—or the blending of informal–indigenous institutions with liberal reforms—to construct competing claims over mineral rights. The resulting uncertainty over the extractive ‘rules of the game’ accelerated conflict as stakeholders attempted to (re)negotiate the distributional consequences of institutional change in real time. International and national actors ultimately rejected hybrid institutional arrangements on the grounds that they distorted post-conflict reforms and undermined peace. Drawing on in-depth fieldwork, I retrace the conflict to provide an alternative perspective. I contend that institutional hybridity served as a necessary component of, rather than barrier to, peacebuilding because it 1) opened space for diverse political participation in post-conflict environmental governance and 2) promoted greater political accountability and integration. These outcomes have been theorized as ways in which environmental reform can facilitate post-conflict peace. This argument aims to advance environmental peacebuilding theory by examining the conditions under which environmental governance reform contributes to post-conflict peacebuilding.
The Risk of Later Diagnosis of Inflammatory Bowel Disease in Patients With Dermatological Disorders Associated With Inflammatory Bowel Disease
Authors: King Dominic , Chandan Joht Singh , Thomas Tom , Nirantharakumar Krishnarajah , Reulen Raoul C , Adderley Nicola J , Trudgill Nigel 
Published: January 2021

Abstract

Background
Dermatological conditions such as erythema nodosum (EN), pyoderma gangrenosum, Sweet’s syndrome, and aphthous stomatitis can occur with inflammatory bowel disease (IBD) and are considered dermatological extraintestinal manifestations (D-EIMs). Rarely, they may precede IBD. Other common conditions such as psoriasis have also been associated with IBD. This study examined the risk of a subsequent IBD diagnosis in patients presenting with a D-EIM.

Methods
A retrospective cohort study compared patients with D-EIMs and age-/sex-matched patients without D-EIMs. Hazard ratios (HRs) were adjusted for age, sex, body mass index, deprivation, comorbidity, smoking, loperamide use, anemia, and lower gastrointestinal symptoms. Logistic regression was used to produce a prediction model for the diagnosis of IBD within 3 years of EN diagnosis.

Results
We matched 7447 patients with D-EIMs (74% female; median age 38 years (interquartile ratio [IQR], 24-65 years) to 29,297 patients without D-EIMs. We observed 131 (1.8%) subsequent IBD diagnoses in patients with D-EIMs compared with 65 (0.2%) in those without D-EIMs. Median time to IBD diagnosis was 205 days (IQR, 44-661 days) in those with D-EIMs and 1594 days (IQR, 693-2841 days) in those without D-EIMs. The adjusted HR for a later diagnosis of IBD was 6.16 (95% confidence interval [CI], 4.53-8.37; P &lt; 0.001), for ulcerative colitis the HR was 3.30 (95% CI, 1.98-5.53; P &lt; 0.001), and for Crohn’s disease the HR was 8.54 (95% CI, 5.74-12.70; P &lt; 0.001). Patients with psoriasis had a 34% increased risk of a subsequent IBD diagnosis compared with the matched control patients (HR, 1.34; 95% CI, 1.20-1.51; P &lt; 0.001). We included 4043 patients with an incident EN diagnosis in the prediction model cohort, with 87 patients (2.2%) diagnosed with IBD within 3 years. The model had a bias-corrected c-statistic of 0.82 (95% CI, 0.78-0.86).

Conclusions
Patients with D-EIMs have a 6-fold increased risk of a later diagnosis of IBD. Younger age, smoking, low body mass index, anemia, and lower gastrointestinal symptoms were associated with an increased risk of diagnosis of IBD within 3 years in patients with EN.
Performance analysis of basin-type vertical multiple-effect diffusion solar still integrated with solar pond: energy, exergy and economical analysis
Authors: Dhindsa Gurprinder Singh , Mittal Madhup Kumar , Sokhal Gurpreet Singh , Sokhal Kamaljit Singh , Khalilpoor Nima , Emani Sampath 
Published: January 2021

Abstract
An experimental analysis was carried out with basin-type vertical multiple-effect diffusion solar still coupled with solar pond (BVMEDS-SP) to evaluate 24 hours overall performance of still by varying feed flow rate and temperature in addition to other affecting parameters. A solar pond was utilized to harness solar energy diurnal and the same energy was provided to basin water nocturnal in batch mode to produce distillate throughout the day. It can be seen that the daily energy and exergy performance of BVMEDS-SP having four effects was improved by 21.74% and 16.83%, respectively, when the feed flow rate was reduced from 0.32 g/m2/s to 0.13 g/m2/s. As the temperature of feed water was enhanced from 25.65°C to 32.4°C, the daily energy and exergy efficiency of BVMEDS-SP correspondingly increased by 41.76% and 46.62%. In addition, increasing the number of effects from 2 to 5 improved the overall energy and exergy efficiency to 93.15% and 171.80%, respectively. The cost analysis revealed that cost of distillate for 2-effect still was Rs. 4.64/kg and it reduced to Rs. 3.11/kg for 7-effect still. A productivity correlation was furthermore developed and estimated that the experimental database of current research was in good agreement with the error band of −5% to +10%.
Variability in the assessment of children’s primary healthcare in 30 European countries
Authors: Luzi daniela , Rocco Ilaria , Tamburis Oscar , Corso Barbara , Minicuci Nadia , Pecoraro Fabrizio 
Published: January 2021

Abstract

Background
The high variability in the types and number of measures adopted to evaluate childcare across European countries makes it necessary to investigate country practices to identify trends in setting national priorities in the assessment of child well-being.

Objective
This paper intends to investigate country practices under the lens of variability to explore possible trends in setting national priority in the evaluation of childcare. In particular, it analyses variability considering to what extent this depends on the tendency of adopting a broad vision (i.e. selecting measures for a larger variety of aspects) or whether this is influenced by the choice of adopting an in-depth approach (i.e. using more measures to analyse a specific aspect)

Methods
An ad hoc questionnaire was administered to a national expert in each country and yielded 352 measures. To analyse variability, the breadth in the number of aspects considered was explored using a convergence index, while the depth in the distribution of measures in each aspect was investigated by computing a coefficient of variation. Countries were grouped by adopting a hierarchical clustering approach.

Results
There is a high variability across countries in the selection of measures that cover different aspects of childcare. Preferences in the distribution of measures are significant even at the domain level and in countries that use a limited number of measures and become more evident at the category and sub-category levels. The statistical analysis clusters countries in four main groups and two outliers. The in-depth distribution of measures focused on a specific aspect shows a homogeneous pattern, with the identification of two main groups of countries.

Conclusions
A limited set of measures are shared across countries hampering a robust comparison of paediatric models. The selection of measures shows that the evaluation is closely related to national priorities as resulting from the number and types of measures adopted. Moreover, a range of a reasonable number of measures can be hypothesized to address the quality of childcare under a multi-dimensional perspective.
Intended and unintended changes in length of stay following reconfiguration of emergency care departments
Authors: Bogh Søren Bie , Fløjstrup Marianne , Möller Sören , Bech Mickael , Johnsen Søren Paaske , Henriksen Daniel Pilsgaard , Mogensen Christian Backer , Lassen Annmarie Touborg , Brabrand Mikkel 
Published: January 2021

Abstract

Background
The Danish health-care system has witnessed noticeable changes in the acute hospital care organization. The reconfiguration includes closing hospitals, centralizing acute care functions and investing in new buildings and equipment.

Objective
To examine the impact on the length of stay (LOS) and the proportion of overnight stays for hospitalized acute care patients.

Methods
This nationwide interrupted time series examined trend changes in LOS and overnight stay. Admissions were stratified based on admission time (weekdays/weekends and time of day), age and the level of co-morbidity

Results
In 2007–2016, the global average LOS declined 2.9% per year (adjusted time ratio [CI (confidence interval) 95%] 0.971 [0.970–0.971]). The reconfiguration was overall not associated with change in trend of LOS (time ratio [CI 95%] 1.001 [1.000–1.002]). When admissions were stratified for either weekdays or weekends, the reconfiguration was associated with reduction of the underlying downward trend for weekdays (time ratio [CI 95%] 1.004 [1.003–1.005]) and increased downward trend for weekend admissions (time ratio [CI 95%] 0.996 [0.094–0.098]). Admissions at night were associated with a 0.7% trend change in LOS (time ratio [CI 95%] 0.993 [0.991–0.996]). The reconfiguration was not associated with trend changes for overnight stays.

Conclusion
The nationwide reconfiguration of acute hospital care was overall not associated with change in trend for the registered LOS and no change in trend for overnight stays. However, the results varied according to hospitalization time, where admissions during weekends and nights after the reconfiguration were associated with shortened LOS.