bluuebunny/crossref_metadata_2025_split huggingface dataset:
Quantitative Trait Loci Variation for Growth and Obesity Between and Within Lines of Pigs (Sus scrofa)
Authors: Nagamine Yoshitaka , Haley Chris S , Sewalem Asheber , Visscher Peter M 
Published: April 2021

Abstract
The hypothesis that quantitative trait loci (QTL) that explain variation between divergent populations also account for genetic variation within populations was tested using pig populations. Two regions of the porcine genome that had previously been reported to harbor QTL with allelic effects that differed between the modern pig and its wild-type ancestor and between the modern pig and a more distantly related population of Asian pigs were studied. QTL for growth and obesity traits were mapped using selectively genotyped half-sib families from five domesticated modern populations. Strong support was found for at least one QTL segregating in each population. For all five populations there was evidence of a segregating QTL affecting fatness in a region on chromosome 7. These findings confirm that QTL can be detected in highly selected commercial populations and are consistent with the hypothesis that the same chromosome locations that account for variation between populations also explain genetic variation within populations.
Candidate Gene Analysis for Quantitative Traits Using the Transmission Disequilibrium Test: The Example of the Melanocortin 4-Receptor in Pigs
Authors: Hernández-Sánchez Jules , Visscher Peter , Plastow Graham , Haley Chris 
Published: April 2021

Abstract
Population-wide associations between loci due to linkage disequilibrium can be used to map quantitative trait loci (QTL) with high resolution. However, spurious associations between markers and QTL can also arise as a consequence of population stratification. Statistical methods that cannot differentiate between loci associations due to linkage disequilibria from those caused in other ways can render false-positive results. The transmission-disequilibrium test (TDT) is a robust test for detecting QTL. The TDT exploits within-family associations that are not affected by population stratification. However, some TDTs are formulated in a rigid form, with reduced potential applications. In this study we generalize TDT using mixed linear models to allow greater statistical flexibility. Allelic effects are estimated with two independent parameters: one exploiting the robust within-family information and the other the potentially biased between-family information. A significant difference between these two parameters can be used as evidence for spurious association. This methodology was then used to test the effects of the fourth melanocortin receptor (MC4R) on production traits in the pig. The new analyses supported the previously reported results; i.e., the studied polymorphism is either causal or in very strong linkage disequilibrium with the causal mutation, and provided no evidence for spurious association.
A Targeted Histone Acetyltransferase Can Create a Sizable Region of Hyperacetylated Chromatin and Counteract the Propagation of Transcriptionally Silent Chromatin
Authors: Chiu Ya-Hui , Yu Qun , Sandmeier Joseph J , Bi Xin 
Published: April 2021

Abstract
Transcriptionally silent chromatin is associated with reduced histone acetylation and its propagation depends on histone hypoacetylation promoted by histone deacetylases. We show that tethered histone acetyltransferase (HAT) Esa1p or Gcn5p creates a segment of hyperacetylated chromatin that is at least 2.6 kb in size and counteracts transcriptional silencing that emanates from a silencer in yeast. Esa1p and Gcn5p counteract URA3 silencing even when they are targeted 1.7 kb downstream of the promoter and &gt;2.0 kb from the silencer. The anti-silencing effect of a targeted HAT is strengthened by increasing the number of targeting sites, but impaired by events that enhance silencing. A tethered HAT can also counteract telomeric silencing. The anti-silencing effect of Gcn5p is abolished by a mutation that eliminated its HAT activity or by deleting the ADA2 gene encoding a structural component of Gcn5p-containing HAT complexes. These results demonstrate that a tethered HAT complex can create a sizable region of histone hyperacetylation and serve as a barrier to encroaching repressive chromatin.
Fission Yeast Tup1-Like Repressors Repress Chromatin Remodeling at the fbp1+ Promoter and the ade6-M26 Recombination Hotspot
Authors: Hirota Kouji , Hoffman Charles S , Shibata Takehiko , Ohta§ Kunihiro 
Published: April 2021

Abstract
Chromatin remodeling plays crucial roles in the regulation of gene expression and recombination. Transcription of the fission yeast fbp1+ gene and recombination at the meiotic recombination hotspot ade6-M26 (M26) are both regulated by cAMP responsive element (CRE)-like sequences and the CREB/ATF-type transcription factor Atf1•Pcr1. The Tup11 and Tup12 proteins, the fission yeast counterparts of the Saccharomyces cerevisiae Tup1 corepressor, are involved in glucose repression of the fbp1+ transcription. We have analyzed roles of the Tup1-like corepressors in chromatin regulation around the fbp1+ promoter and the M26 hotspot. We found that the chromatin structure around two regulatory elements for fbp1+ was remodeled under derepressed conditions in concert with the robust activation of fbp1+ transcription. Strains with tup11Δ tup12Δ double deletions grown in repressed conditions exhibited the chromatin state associated with wild-type cells grown in derepressed conditions. Interestingly, deletion of rst2+, encoding a transcription factor controlled by the cAMP-dependent kinase, alleviated the tup11Δ tup12Δ defects in chromatin regulation but not in transcription repression. The chromatin at the M26 site in mitotic cultures of a tup11Δ tup12Δ mutant resembled that of wild-type meiotic cells. These observations suggest that these fission yeast Tup1-like corepressors repress chromatin remodeling at CRE-related sequences and that Rst2 antagonizes this function.
Mutations in Eukaryotic Release Factors 1 and 3 Act as General Nonsense Suppressors in Drosophila
Authors: Chao Anna T , Dierick Herman A , Addy Tracie M , Bejsovec Amy 
Published: April 2021

Abstract
In a screen for suppressors of the Drosophila winglessPE4 nonsense allele, we isolated mutations in the two components that form eukaryotic release factor. eRF1 and eRF3 comprise the translation termination complex that recognizes stop codons and catalyzes the release of nascent polypeptide chains from ribosomes. Mutations disrupting the Drosophila eRF1 and eRF3 show a strong maternal-effect nonsense suppression due to readthrough of stop codons and are zygotically lethal during larval stages. We tested nonsense mutations in wg and in other embryonically acting genes and found that different stop codons can be suppressed but only a subset of nonsense alleles are subject to suppression. We suspect that the context of the stop codon is significant: nonsense alleles sensitive to suppression by eRF1 and eRF3 encode stop codons that are immediately followed by a cytidine. Such suppressible alleles appear to be intrinsically weak, with a low level of readthrough that is enhanced when translation termination is disrupted. Thus the eRF1 and eRF3 mutations provide a tool for identifying nonsense alleles that are leaky. Our findings have important implications for assigning null mutant phenotypes and for selecting appropriate alleles to use in suppressor screens.
An AFLP-Based Genetic Linkage Map of Channel Catfish (Ictalurus punctatus) Constructed by Using an Interspecific Hybrid Resource Family
Authors: Liu Zhanjiang , Karsi Attila , Li Ping , Cao Dongfeng , Dunham R 
Published: April 2021

Abstract
Catfish is the major aquaculture species in the United States. The hybrid catfish produced by crossing channel catfish females with blue catfish males exhibit a number of desirable production traits, but their mass production has been difficult. To introduce desirable genes from blue catfish into channel catfish through introgression, a genetic linkage map is helpful. In this project, a genetic linkage map was constructed using amplified fragment length polymorphism (AFLP). A total of 607 AFLP markers were analyzed using 65 primer combinations and an interspecific backcross resource family. A total of 418 AFLP markers were assigned to 44 linkage groups. Among the remaining 189 markers, 101 were not used because of significant segregation distortion, 29 were unlinked, and 59 were eliminated because they span very large distances. The 418 AFLP markers covered 1593 cM Kosambi. The AFLP markers showed a high level of clustering that appears to be related to certain primer combinations. This linkage map will serve as the basis for mapping a greater number of markers to provide a map with high enough resolution for it to be useful for selective breeding programs using introgression.
Population Structure and Its Effect on Haplotype Diversity and Linkage Disequilibrium Surrounding the xa5 Locus of Rice (Oryza sativa L.)
Authors: Garris Amanda J , McCouch Susan R , Kresovich Stephen 
Published: April 2021

Abstract
To assess the usefulness of linkage disequilibrium mapping in an autogamous, domesticated species, we have characterized linkage disequilibrium in the candidate region for xa5, a recessive gene conferring race-specific resistance to bacterial blight in rice. This trait and locus have good mapping information, a tractable phenotype, and available sequence data, but no cloned gene. We sampled 13 short segments from the 70-kb candidate region in 114 accessions of Oryza sativa. Five additional segments were sequenced from the adjacent 45-kb region in resistant accessions to estimate the distance at which linkage disequilibrium decays. The data show significant linkage disequilibrium between sites 100 kb apart. The presence of the xa5 resistant reaction in two ecotypes and in accessions with different haplotypes in the candidate region may indicate multiple origins or genetic heterogeneity for resistance. In addition, genetic differentiation between ecotypes emphasizes the need for controlling for population structure in the design of linkage disequilibrium studies in rice.
Mu killer Causes the Heritable Inactivation of the Mutator Family of Transposable Elements in Zea mays
Authors: Slotkin R Keith , Freeling Michael , Lisch Damon 
Published: April 2021

Abstract
Mutations in a number of genes responsible for the maintenance of transposon silencing have been reported. However, the initiation of epigenetic silencing of transposable elements is poorly characterized. Here, we report the identification of a single dominant locus, Mu killer (Muk), that acts to silence MuDR, the autonomous regulatory transposon of the Mutator family of transposable elements in maize. Muk results in the methylation of MuDR TIRs and is competent to silence one or several active MuDR elements. Silencing by Muk is not dependent on the position of the MuDR element and occurs gradually during plant development. Transcript levels of the MuDR transposase, mudrA, decrease substantially when Muk is present. The other transcript encoded by MuDR, mudrB, also fails to accumulate in the poly(A) RNA fraction when MuDR and Muk are combined. Additionally, plants undergoing MuDR silencing produce small, mudrA-homologous ∼26-nt RNAs, suggesting a role for RNA-directed DNA methylation in MuDR silencing. MuDR elements silenced by Muk remain silenced even in plants that do not inherit Muk, suggesting that Muk is required for the initiation of MuDR silencing but not for its maintenance.
Analysis and Exploration of the Use of Rule-Based Algorithms and Consensus Methods for the Inferral of Haplotypes
Authors: Orzack Steven Hecht , Gusfield Daniel , Olson Jeffrey , Nesbitt Steven , Subrahmanyan Lakshman , Stanton Vincent P 
Published: April 2021

Abstract
The difficulty of experimental determination of haplotypes from phase-unknown genotypes has stimulated the development of nonexperimental inferral methods. One well-known approach for a group of unrelated individuals involves using the trivially deducible haplotypes (those found in individuals with zero or one heterozygous sites) and a set of rules to infer the haplotypes underlying ambiguous genotypes (those with two or more heterozygous sites). Neither the manner in which this “rule-based” approach should be implemented nor the accuracy of this approach has been adequately assessed. We implemented eight variations of this approach that differed in how a reference list of haplotypes was derived and in the rules for the analysis of ambiguous genotypes. We assessed the accuracy of these variations by comparing predicted and experimentally determined haplotypes involving nine polymorphic sites in the human apolipoprotein E (APOE) locus. The eight variations resulted in substantial differences in the average number of correctly inferred haplotype pairs. More than one set of inferred haplotype pairs was found for each of the variations we analyzed, implying that the rule-based approach is not sufficient by itself for haplotype inferral, despite its appealing simplicity. Accordingly, we explored consensus methods in which multiple inferrals for a given ambiguous genotype are combined to generate a single inferral; we show that the set of these “consensus” inferrals for all ambiguous genotypes is more accurate than the typical single set of inferrals chosen at random. We also use a consensus prediction to divide ambiguous genotypes into those whose algorithmic inferral is certain or almost certain and those whose less certain inferral makes molecular inferral preferable.
Sequence Differentiation Associated With an Inversion on the Neo-X Chromosome of Drosophila americana
Authors: McAllister Bryant F 
Published: April 2021

Abstract
Sex chromosomes originate from pairs of autosomes that acquire controlling genes in the sex-determining cascade. Universal mechanisms apparently influence the evolution of sex chromosomes, because this chromosomal pair is characteristically heteromorphic in a broad range of organisms. To examine the pattern of initial differentiation between sex chromosomes, sequence analyses were performed on a pair of newly formed sex chromosomes in Drosophila americana. This species has neo-sex chromosomes as a result of a centromeric fusion between the X chromosome and an autosome. Sequences were analyzed from the Alcohol dehydrogenase (Adh), big brain (bib), and timeless (tim) gene regions, which represent separate positions along this pair of neo-sex chromosomes. In the northwestern range of the species, the bib and Adh regions exhibit significant sequence differentiation for neo-X chromosomes relative to neo-Y chromosomes from the same geographic region and other chromosomal populations of D. americana. Furthermore, a nucleotide site defining a common haplotype in bib is shown to be associated with a paracentric inversion [In(4)ab] on the neo-X chromosome, and this inversion suppresses recombination between neo-X and neo-Y chromosomes. These observations are consistent with the inversion acting as a recombination modifier that suppresses exchange between these neo-sex chromosomes, as predicted by models of sex chromosome evolution.
Distribution of Temperature Tolerance Quantitative Trait Loci in Arctic Charr (Salvelinus alpinus) and Inferred Homologies in Rainbow Trout (Oncorhynchus mykiss)
Authors: Somorjai Ildiko M L , Danzmann Roy G , Ferguson Moira M 
Published: April 2021

Abstract
We searched for quantitative trait loci (QTL) affecting upper temperature tolerance (UTT) in crosses between the Nauyuk Lake and Fraser River strains of Arctic charr (Salvelinus alpinus) using survival analysis. Two QTL were detected by using two microsatellite markers after correcting for experiment-wide error. A comparative mapping approach localized these two QTL to homologous linkage groups containing UTT QTL in rainbow trout (Oncorhynchus mykiss). Additional marginal associations were detected in several families in regions homologous to those with QTL in rainbow trout. Thus, the genes underlying UTT QTL may antedate the divergence of these two species, which occurred by ∼16 MYA. The data also indicate that one pair of homeologs (ancestrally duplicated chromosomal segments) have contained QTL in Arctic charr since the evolution of salmonids from a tetraploid ancestor 25-100 MYA. This study represents one of the first examples of comparative QTL mapping in an animal polyploid group and illustrates the fate of QTL after genome duplication and reorganization.
The Contribution of Genetic Diversity to the Spread of Infectious Diseases in Livestock Populations
Authors: Springbett A J , MacKenzie K , Woolliams J A , Bishop S C 
Published: April 2021

Abstract
This article uses stochastic simulations with a compartmental epidemic model to quantify the impact of genetic diversity within animal populations on the transmission of infectious disease. Genetic diversity is defined by the number of distinct genotypes in the population conferring resistance to microparasitic (e.g., viral or bacterial) infections. Scenarios include homogeneous populations and populations composed of few (finite-locus model) or many (infinitesimal model) genotypes. Genetic heterogeneity has no impact upon the expected value of the basic reproductive ratio (the primary description of the transmission of infection) but affects the variability of this parameter. Consequently, increasing genetic heterogeneity is associated with an increased probability of minor epidemics and decreased probabilities of both major (catastrophic) epidemics and no epidemics. Additionally, heterogeneity per se is associated with a breakdown in the expected relationship between the basic reproductive ratio and epidemic severity, which has been developed for homogeneous populations, with increasing heterogeneity generally resulting in fewer infected animals than expected. Furthermore, increased heterogeneity is associated with decreased disease-dependent mortality in major epidemics and a complex trend toward decreased duration of these epidemics. In summary, more heterogeneous populations are not expected to suffer fewer epidemics on average, but are less likely to suffer catastrophic epidemics.
Detecting Population Growth, Selection and Inherited Fertility From Haplotypic Data in Humans
Authors: Austerlitz Frédéric , Kalaydjieva Luba , Heyer Evelyne 
Published: April 2021

Abstract
The frequency of a rare mutant allele and the level of allelic association between this allele and one or several closely linked markers are frequently measured in genetic epidemiology. Both quantities are related to the time elapsed since the appearance of the mutation in the population and the intrinsic growth rate of the mutation (which may be different from the average population growth rate). Here, we develop a method that uses these two kinds of genetic data to perform a joint estimation of the age of the mutation and the minimum growth rate that is compatible with its present frequency. In absence of demographic data, it provides a useful estimate of population growth rate. When such data are available, contrasts among estimates from several loci allow demographic processes, affecting all loci similarly, to be distinguished from selection, affecting loci differently. Testing these estimates on populations for which data are available for several disorders shows good congruence with demographic data in some cases whereas in others higher growth rates are obtained, which may be the result of selection or hidden demographic processes.
Genetics of P-Element Transposition Into Drosophila melanogaster Centric Heterochromatin
Authors: Konev Alexander Y , Yan Christopher M , Acevedo David , Kennedy Cameron , Ward Elaina , Lim Arlene , Tickoo Sanjay , Karpen Gary H 
Published: April 2021

Abstract
Heterochromatin is a major component of higher eukaryotic genomes, but progress in understanding the molecular structure and composition of heterochromatin has lagged behind the production of relatively complete euchromatic genome sequences. The introduction of single-copy molecular-genetic entry points can greatly facilitate structure and sequence analysis of heterochromatic regions that are rich in repeated DNA. In this study, we report the isolation of 502 new P-element insertions into Drosophila melanogaster centric heterochromatin, generated in nine different genetic screens that relied on mosaic silencing (position-effect variegation, or PEV) of the yellow gene present in the transposon. The highest frequencies of recovery of variegating insertions were observed when centric insertions were used as the source for mobilization. We propose that the increased recovery of variegating insertions from heterochromatic starting sites may result from the physical proximity of different heterochromatic regions in germline nuclei or from the association of mobilizing elements with heterochromatin proteins. High frequencies of variegating insertions were also recovered when a potent suppressor of PEV (an extra Y chromosome) was present in both the mobilization and selection generations, presumably due to the effects of chromatin structure on P-element mobilization, insertion, and phenotypic selection. Finally, fewer variegating insertions were recovered after mobilization in females, in comparison to males, which may reflect differences in heterochromatin structure in the female and male germlines. FISH localization of a subset of the insertions confirmed that 98% of the variegating lines contain heterochromatic insertions and that these schemes produce a broader distribution of insertion sites. The results of these schemes have identified the most efficient methods for generating centric heterochromatin P insertions. In addition, the large collection of insertions produced by these screens provides molecular-genetic entry points for mapping, sequencing, and functional analysis of Drosophila heterochromatin.
Selection and Drift in Subdivided Populations: A Straightforward Method for Deriving Diffusion Approximations and Applications Involving Dominance, Selfing and Local Extinctions
Authors: Roze Denis , Rousset François 
Published: April 2021

Abstract
Population structure affects the relative influence of selection and drift on the change in allele frequencies. Several models have been proposed recently, using diffusion approximations to calculate fixation probabilities, fixation times, and equilibrium properties of subdivided populations. We propose here a simple method to construct diffusion approximations in structured populations; it relies on general expressions for the expectation and variance in allele frequency change over one generation, in terms of partial derivatives of a “fitness function” and probabilities of genetic identity evaluated in a neutral model. In the limit of a very large number of demes, these probabilities can be expressed as functions of average allele frequencies in the metapopulation, provided that coalescence occurs on two different timescales, which is the case in the island model. We then use the method to derive expressions for the probability of fixation of new mutations, as a function of their dominance coefficient, the rate of partial selfing, and the rate of deme extinction. We obtain more precise approximations than those derived by recent work, in particular (but not only) when deme sizes are small. Comparisons with simulations show that the method gives good results as long as migration is stronger than selection.
MLH1p and MLH3p Localize to Precociously Induced Chiasmata of Okadaic-Acid-Treated Mouse Spermatocytes
Authors: Marcon Edyta , Moens Peter 
Published: April 2021

Abstract
With the phosphatase inhibitor, okadaic acid, we induce the precocious onset of the chiasmate stage and under those conditions show that the recombination nodules, MLH1 and MLH3 foci, are localized to the chiasmata. It is concluded that MLH1/3 foci are appropriate markers for the studies of crossovers/chiasmata development and distribution at late meiotic prophase.