bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variants That Differentiate Wolf and Dog Populations Are Enriched in Regulatory Elements
Authors: Sahlén Pelin , Yanhu Liu , Xu Jinrui , Kubinyi Eniko , Wang Guo-Dong , Savolainen Peter 
Published: April 2021

Abstract
Research on the genetics of domestication most often focuses on the protein-coding exons. However, exons cover only a minor part (1–2%) of the canine genome, whereas functional mutations may be located also in regions beyond the exome, in regulatory regions. Therefore, a large proportion of phenotypical differences between dogs and wolves may remain genetically unexplained. In this study, we identified variants that have high allelic frequency differences (i.e., highly differentiated variants) between wolves and dogs across the canine genome and investigated the potential functionality. We found that the enrichment of highly differentiated variants was substantially higher in promoters than in exons and that such variants were enriched also in enhancers. Several enriched pathways were identified including oxytocin signaling, carbohydrate digestion and absorption, cancer risk, and facial and body features, many of which reflect phenotypes of potential importance during domestication, including phenotypes of the domestication syndrome. The results highlight the importance of regulatory mutations during dog domestication and motivate the functional annotation of the noncoding part of the canine genome.
GENE DIFFERENCES BETWEEN THE SEX RATIO AND STANDARD GENE ARRANGEMENTS OF THE X CHROMOSOME IN DROSOPHILA PERSIMILIS
Authors: Policansky David , Zouros E 
Published: April 2021

ABSTRACT
The sibling species Drosophila pseudoobscura and D. persimilis each carry two gene arrangements in the right arm of the X chromosome; Standard (ST) and Sex Ratio (SR). The SR sequence of D. persimilis and the ST sequence of D. pseudoobscura have the same banding pattern. These cytologically identical arrangements carry different alleles at the esterase-5 (Est-5) and phosphoglucomutase-1 (Pgm-1) loci. All the alleles on the SR arrangement of D. persimilisare also present on the ST arrangement of that species, and the same allele was most common in all cases. However, the allele frequencies at the Pgm-1 locus are significantly different between the two arrangements. Within the ST arrangement of D. persimilis, the alleles at the Est-5 and Pgm-1 loci are in linkage equilibrium.
EPIDERMIS IS THE SITE OF ACTION OF TABBY (TA) IN THE MOUSE
Authors: Mayer Thomas C , Green Margaret C 
Published: April 2021

ABSTRACT
The site of action of the sex-linked tabby (Ta) locus was analyzed by the technique of dermal-epidermal recombination grafting. Skin components from normal and tabby 14-day embryos were separated, recombined and grown 21 days in testes of histocompatible mice. Grafts of the combinations normal epidermis-normal dermis and normal epidermis-tabby dermis produced predominantly zig-zag hairs. Grafts of the combination tabby epidermis-normal dermis and tabby epidermis-tabby dermis produced hairs with a morphology similar to hairs found in tabby mice. We conclude from these results that the tabby locus acts within the epidermis, and has no effect on the dermis.
EVIDENCE FOR CO-DOMINANCE OF THE HOMOTHALLIC GENES, HMα/hmα AND HM
a/hm
a, IN SACCHAROMYCES YEASTS
Authors: Arima Kenji , Takano Isamu 
Published: April 2021

ABSTRACT
To investigate the dominance and recessiveness of the homothallism genes, HMα/hmα and HMa/hma, for mating-type conversion, we constructed hybrids with various configurations of the homothallic genes by fusion of protoplasts prepared from haploid strains having identical mating types. Eight different combinations of the homothallic genes were tested for their function by observing the mating and sporulation abilities of the fusion products. With few exceptions, nonmating and sporogenous fusion products were obtained from the following combinations: α HO hmα HMa + α ho hmα hma, α HO hmα HMa + α ho HMα hma, α HO hmα HMa + α ho HMα HMa, α HO HMα hma + a ho hmα hma, a HO HMα hma + a ho hmα HMa and a HO HMα hma + α ho HMα HMa. All the fusion products from the α HO hmα HMa + α ho hmα HMa and a HO HMα hma + a ho HMα hma combinations showed mating types identical to those of the respective haploid strains. These results clearly support the co-dominance of the HMα/hmα and HMa/hma alleles and indicate that the hmα allele has the same function as the HMa allele and that the hma allele has the same function as the HMα allele.
RELATIVE RATES AT WHICH DOMINANT-LETHAL MUTATIONS AND HERITABLE TRANSLOCATIONS ARE INDUCED BY ALKYLATING CHEMICALS IN POSTMEIOTIC MALE GERM CELLS OF MICE
Authors: Generoso Walderico M , Huff Sandra W , Cain Katherine T 
Published: April 2021

ABSTRACT
There is a close relationship between the rates at which dominant lethal mutations and heritable translocations are induced by ethyl methanesulfonate (EMS) or triethylenemelamine (TEM) in male postmeiotic germ cells. This relationship does not hold for isopropyl methanesulfonate (IMS), which induced only negligible frequencies of heritable translocations at doses that induced high levels of dominant lethal mutations. Nor does IMS behave like EMS and TEM in the degree to which eggs of different stocks of females repair premutational lesions that are carried in the sperm—large differences between stocks for IMS treatment and small differences for EMS or TEM treatment. These dissimilarities between IMS and the other two alkylating chemicals are postulated to be attributable to differences in the types of lesions present at the time of repair activity and to whether or not chromosomal aberrations are already fixed prior to postfertilization pronuclear DNA synthesis.
CONTROL OF ENDOSPERM PROTEINS IN TRITICUM AESTIVUM (var. CHINESE SPRING) AND AEGILOPS UMBELLULATA BY HOMOEOLOGOUS GROUP 1 CHROMOSOMES
Authors: Brown John W S , Kemble Roger J , Law Colin N , Flavell Richard B 
Published: April 2021

ABSTRACT
The genetic control of major wheat endosperm proteins by homoeologous group 1 chromosomes has been studied by two-dimensional polyacrylamide gel electrophoresis. The control of at least 15 distinct protein subunits or groups of protein subunits has been allocated to chromosomes 1A, 1B and 1D of Chinese Spring wheat from the analysis of grains of aneuploid genotypes. In addition, six protein subunits have been shown to be controlled by chromosome 1Cu of the related species, Aegilops umbellulata, from studies of wheat lines carrying disomic substitutions of 1Cu chromosomes. On the basis of protein subunit patterns, chromosome 1Cu is more closely related to chromosome ID of wheat than to chromosomes 1A or 1B.
GENE FLOW AND LIFE HISTORY PATTERNS
Authors: Endler John A 
Published: April 2021

ABSTRACT
Dispersal distances overestimate the gene-flow scale l (the square-root of the mean squared distance travelled from birth to reproduction) when egg laying is concentrated early in dispersal and when there is mortality during dispersal. If egg laying follows a square-root normal distribution in time, as it does in several Drosophila species, then l is reduced to about 0.6 of that estimated from dispersal alone, unless egg laying is concentrated in a very brief period. If mortality is such that the half-life is earlier than the mean fecundity day, then l will be reduced still more relative to the dispersal estimate, and will be very sensitive to small changes in mortality. Overestimating l yields overestimates of the amount of selection needed to maintain geographic differences in gene frequencies. If mortality increases in suboptimal habitats, then the neighborhood size will be smaller in those areas, because increased mortality decreases l. This means that l is smallest, allowing the greatest differentiation and genetic innovation, precisely where it is most needed. This lends support to WRIGHT'S shifting balance hypothesis. If l is adjusted to local conditions, then we do not necessarily expect a positive relationship between environmental and genetic heterogeneity. Data from Drosophila pseudoobscura are used to make the models realistic, and it is shown that l depends on the distances among traps or breeding sites. It is therefore essential to know the geometry of breeding sites and the life history parameters to estimate l.
SELECTION OF lys2 MUTANTS OF THE YEAST SACCHAROMYCES CEREVISIAE BY THE UTILIZATION OF α-AMINOADIPATE
Authors: Chattoo Bharat B , Sherman Fred , Azubalis Dalia A , Fjellstedt Thorsten A , Mehnert David , Ogur Maurice 
Published: April 2021

ABSTRACT
Normal strains of Saccharomyces cereuisiae do not use α-aminoadipate as a principal nitrogen source. However, α-aminoadipate is utilized as a nitrogen source by lys2 and lys5 strains having complete or partial deficiencies of α-aminoadipate reductase and, to a limited extent, by heterozygous lys2/ + strains. Lys2 mutants were conveniently selected on media containing α-aminoadipate as a nitrogen source, lysine, and other supplements to furnish other possible auxotrophic requirements. The lys2 mutations were obtained in a variety of laboratory strains containing other markers, including other lysine mutations. In addition to the predominant class of lys2 mutants, low frequencies of lys5 mutants and mutants not having any obvious lysine requirement were recovered on α-aminoadipate medium. The mutants not requiring lysine appeared to have mutations at the lys2 locus that caused partial deficiencies of a-aminoadipate reductase. Such partial deficiencies are believed to be sufficiently permissive to allow lysine biosynthesis, but sufficiently restrictive to allow for the utilization of α-aminoadipate. Although it is unknown why partial or complete deficiencies of α-aminoadipate reductase cause utilization of α-aminoadipate as a principal nitrogen source, the use of α-aminoadipate medium has considerable utility as a selective medium for lys2 and lys5 mutants.
GENETIC AND PHENOTYPIC CHARACTERIZATION OF ROLLER MUTANTS OF CAENORHABDITIS ELEGANS
Authors: Cox George N , Laufer John S , Kusch Meredith , Edgar Robert S 
Published: April 2021

ABSTRACT
Eighty-eight mutants of C. elegans that display a roller phenotype (a helically twisted body) have been isolated and characterized genetically and phenotypically. The mutations are located in 14 different genes. Most genes contain a number of alleles. Their distribution among the chromosomes appears nonrandom, with seven of the genes being located on linkage group 11, some very closely linked. The phenotypes of the mutants suggest that there are five different classes of genes, each class representing a set of similar phenotypic effects: Left Roller (four genes), Right Roller (one gene), Left Squat (one gene), Right Squat (two genes) and Left Dumpy Roller (six genes). The classes of mutants differ with respect to a number of characteristics that include the developmental stages affected and the types of aberrations observed in cuticle structure. A variety of gene interactions were found, arguing that these genes are involved in a common developmental process. The presence of alterations in cuticle morphology strongly suggests that these genes are active in the formation of the nematode cuticle.
GENETIC ANALYSIS OF THE ANTENNAPEDIA GENE COMPLEX (ANT-C) AND ADJACENT CHROMOSOMAL REGIONS OF DROSOPHILA MELANOGASTER. I. POLYTENE CHROMOSOME SEGMENTS 84B-D
Authors: Lewis R A , Kaufman T C , Denell R E , Tallerico P 
Published: April 2021

ABSTRACT
A deficiency spanning section 84B-D of the proximal right arm of chromosome 3 of Drosophila melanogaster has been utilized as a screen for mutations that aid in the genetic dissection of this developmentally interesting region.——Ninety-two mutations have been recovered, of which 12 have been localized by deficiency and complementation mapping to the 84B1,2 doublet, the site of the Antennapedia complex (ANT-C). This has permitted a more precise description of the genetic organization of this complex locus.——A collection of 31 mutations that reside in 84Cl-D2 displays an intricate circular complementation pattern, characterized by two clusters of mutations that exhibit semi-lethality, negative complementation and temperature sensitivity. Mutations affecting seven additional functional groups within the 84B-D region were also recovered.
ANALYZING GENE-FREQUENCY DATA WHEN THE EFFECTIVE POPULATION SIZE IS FINITE
Authors: Wilson Susan R 
Published: April 2021

ABSTRACT
The statistical methods used by SCHAFFER, YARDLEY and ANDERSON (1977) and by GIBSON et al. (1979) to analyze the variation in allele frequencies in two common types of experimental procedure, where the effective population size is finite, are extended to a more general situation involving a greater range of experiments. The analysis developed is more sensitive in detecting changes in allele frequency due to both fluctuating and balancing selection, as well as to directional selection. The error involved in many studies due to ignoring the effective population size structure would appear to be large. The range of hypotheses that can be considered may be increased as well. Finally, the method of determining bounds for the effective population size, when a particular genetic model is known to hold for a data set, is also outlined.
THE IMPACT OF RANDOM AND LINEAL FISSION ON THE GENETIC DIVERGENCE OF SMALL HUMAN GROUPS: A CASE STUDY AMONG THE YANOMAMA
Authors: Smouse Peter E , Vitzthum Virginia J , Neel James V 
Published: April 2021

ABSTRACT
Most of the genetic divergence that currently separates populations of Homo sapiens must have arisen during that long period when the local village (or band) was the basic unit of biological evolution. Studies of tribally intact Amerindian groups exhibiting such small-group organization have demonstrated marked genetic divergence between nearby villages. Some of this genetic radiation can be attributed to the effects of random genetic drift over time within these small demes. Some of it, however, might be better ascribed to the consequences of nonrandom genetic assortment at the time of village fission, a recurring event for such groups. Even random genetic assortment at the time of fission would lead to some genetic divergence, due to the finite size of the parent gene pool. We term the genetic consequences of random assortment the random fission effect. Routinely, village fission occurs along family lines, leading to even greater genetic divergence between the daughter villages. We use the term lineal fission effect to describe the genetic consequences of nonrandom assortment and contrast these results with those derived from random assortment.——A formal treatment of random and lineal fission effects is developed, first for the single-locus case, then for the multiple-locus extension. Using this formulation, three Yanomama fission events were examined. Fission in the Yanomama often involves a great deal of mutual hostility between the two factions, so that subsequent gene flow between the two daughter villages is minimal. The first two examples are typical of the Yanomama behavior norm, and are accompanied by a minimum of subsequent gene flow between the daughter villages. In these two cases, the observed divergence values are very large and are also very unlikely under random fission. The lineal fission effect is pronounced. The net impact of lineal fission is to reduce the effective size of the village at the time of fission by a factor of four, relative to expectation from random fission. The third example, however, involved an unusually amicable split of a village, followed by free genetic exchange between the fission products. This "friendly fission" yields an observed divergence value not much in excess of the expectation from random fission.—The long-term consequences of such fission bottlenecks in effective population size are discussed for both intra- and inter-tribal genetic diversity. It appears that the rate of genetic divergence for tribal and subtribal groups may have been somewhat greater than would be expected from classical drift arguments.
MUTANTS OF YEAST DEFECTIVE IN SUCROSE UTILIZATION
Authors: Carlson Marian , Osmond Barbara C , Botstein David 
Published: April 2021

ABSTRACT
Utilization of sucrose as a source of carbon and energy in yeast (Saccharomyces) is controlled by the classical SUC genes, which confer the ability to produce the sucrose-degrading enzyme invertase (Mortimer and Hawthorne 1969). Mutants of S. cerevisiae strain S288C (SUC2 +) unable to grow anaerobically on sucrose, but still able to use glucose, were isolated. Two major complementation groups were identified: twenty-four recessive mutations at the SUC2 locus (suc2 -); and five recessive mutations defining a new locus, SNF1 (for sucrose nonfermenting), essential for sucrose utilization. Two minor complementation groups, each comprising a single member with a leaky sucrose-nonfermenting phenotype, were also identified. The suc2 mutations isolated include four suppressible amber mutations and five mutations apparently exhibiting intragenic complementation; complementation analysis and mitotic mapping studies indicated that all of the suc2 mutations are alleles of a single gene. These results suggest that SUC2 encodes a protein, probably a dimer or multimer. No invertase activity was detected in suc2 mutants.—The SNF1 locus is not tightly linked to SUC2. The snf1 mutations were found to be pleiotropic, preventing sucrose utilization by SUC2 + and SUC7 + strains, and also preventing utilization of galactose, maltose and several nonfermentable carbon sources. Although snf1 mutants thus display a petite phenotype, classic petite mutations do not interfere with utilization of sucrose, galactose or maltose. A common feature of all the carbon utilization systems affected by SNF1 is that all are regulated by glucose repression. The snf1 mutants were found to produce the constitutive nonglycosylated form of invertase, but failed to produce the glucose-repressible, glycosylated, secreted invertase. This failure cannot be attributed to a general defect in production of glycosylated and secreted proteins because synthesis of acid phosphatase, a glycosylated secreted protein not subject to glucose repression, was not affected by snf1 mutations. These findings suggest that the SNF1 locus is involved in the regulation of gene expression by glucose repression.
In-Depth Analyses of the Effects of a Diet and Resistance Exercise Intervention in Older Adults: Who Benefits Most From ProMuscle in Practice?
Authors: Dorhout Berber G , Doets Esmée L , van Dongen Ellen J I , de Groot Lisette C P G M , Haveman-Nies Annemien 
Published: April 2021

Abstract

Background
The ProMuscle in Practice intervention, comprising resistance exercise and an increased protein intake, was effective in improving muscle strength, lean body mass, and physical functioning in older adults aged 65 years and older (N = 168). However, a heterogeneous response to such interventions is common. Therefore, we explored the differences in responsiveness to the intervention in subgroups based on demographic characteristics and mobility-impairing disorders.

Method
Multiple regression analyses were performed to study mean changes between baseline and 12 weeks on the Short Physical Performance Battery, chair rise test, lean body mass, knee extension strength, leg press strength, and leg extension strength. The interaction term Treatment × Subgroup was included to study differences in effects between subgroups. Subgroups comprised age (≤75 vs &gt;75 years), sex (men vs women), presence of frailty, presence of sarcopenia, and presence of osteoarthritis.

Results
A significant interaction effect including age was found on lean body mass (β = −0.8; 95% CI: −1.5, −0.2), favoring participants aged 75 years and younger. A significant interaction effect including sex was found on leg press strength (β = 15.5; 95% CI: 0.6, 30.3), favoring women. Participants with or without frailty, sarcopenia, or osteoarthritis responded equally to the intervention in terms of absolute effects.

Conclusions
Participants aged 75 years and younger and women benefited to a great extent from the intervention, as they improved significantly on nearly every outcome. Effects in participants with and without a mobility-impairing disorder were comparable, indicating that the intervention is suitable for both groups.
Body Composition by Computed Tomography vs Dual-Energy X-ray Absorptiometry: Long-Term Prediction of All-Cause Mortality in the Health ABC Cohort
Authors: Farsijani Samaneh , Xue Lingshu , Boudreau Robert M , Santanasto Adam J , Kritchevsky Stephen B , Newman Anne B 
Published: April 2021

Abstract

Background
Body composition assessment by computed tomography (CT) predicts health outcomes in diverse populations. However, its performance in predicting mortality has not been directly compared to dual-energy X-ray absorptiometry (DXA). Additionally, the association between different body compartments and mortality, acknowledging the compositional nature of the human body, is not well studied. Compositional data analysis, which is applied to multivariate proportion-type data set, may help to account for the interrelationships of body compartments by constructing log ratios of components. Here, we determined the associations of baseline CT-based measures of mid-thigh cross-sectional areas versus DXA measures of body composition with all-cause mortality in the Health ABC cohort, using both traditional (individual body compartments) and compositional data analysis (using ratios of body compartments) approaches.

Methods
The Health ABC study assessed body composition in 2911 older adults in 1996–1997. We investigated the individual and ratios of (by compositional analysis) body compartments assessed by DXA (lean, fat, and bone masses) and CT (muscle, subcutaneous fat area, intermuscular fat, and bone) on mortality, using Cox proportional hazard models.

Results
Lower baseline muscle area by CT (hazard ratio [HR]men = 0.56; 95% confidence interval [95% CI]: 0.48–0.67, HRwomen = 0.60; 95% CI: 0.48–0.74) and fat mass by DXA (HRmen = 0.48; 95% CI: 0.24–0.95) were predictors of mortality in traditional Cox regression analysis. Consistently, compositional data analysis revealed that lower muscle area versus IMF, muscle area versus bone area, and lower fat mass versus lean mass were associated with higher mortality in both sexes.

Conclusion
Both CT measure of muscle area and DXA fat mass (either individually or relative to other body compartments) were strong predictors of mortality in both sexes in a community research setting.