scholarly journals The Anomalous Effects of Biased Mutation

Genetics ◽  
2003 ◽  
Vol 164 (4) ◽  
pp. 1615-1626
Author(s):  
D Waxman ◽  
J R Peck
Keyword(s):  
Quantitative Genetics ◽  
Quantitative Trait ◽  
Mean Value ◽  
Stabilizing Selection ◽  
Nonmonotonic Dependence ◽  
Genetic Constraints ◽  
Unconstrained Model ◽  
Parental Allele ◽  
The Mean ◽  
Parameter Values

Abstract A model is presented in which alleles at a number of loci combine to influence the value of a quantitative trait that is subject to stabilizing selection. Mutations can occur to alleles at the loci under consideration. Some of these mutations will tend to increase the value of the trait, while others will tend to decrease it. In contrast to most previous models, we allow the mean effect of mutations to be nonzero. This means that, on average, mutations can have a bias, such that they tend to either increase or decrease the value of the trait. We find, unsurprisingly, that biased mutation moves the equilibrium mean value of the quantitative trait in the direction of the bias. What is more surprising is the behavior of the deviation of the equilibrium mean value of the trait from its optimal value. This has a nonmonotonic dependence on the degree of bias, so that increasing the degree of bias can actually bring the mean phenotype closer to the optimal phenotype. Furthermore, there is a definite maximum to the extent to which biased mutation can cause a difference between the mean phenotype and the optimum. For plausible parameter values, this maximum-possible difference is small. Typically, quantitative-genetics models assume an unconstrained model of mutation, where the expected difference in effect between a parental allele and a mutant allele is independent of the current state of the parental allele. Our results show that models of this sort can easily lead to biologically implausible consequences when mutations are biased. In particular, unconstrained mutation typically leads to a continual increase or decrease in the mean allelic effects at all trait-controlling loci. Thus at each of these loci, the mean allelic effect eventually becomes extreme. This suggests that some of the models of mutation most commonly used in quantitative genetics should be modified so as to introduce genetic constraints.

Integrating genomics and multivariate evolutionary quantitative genetics: a case study of constraints on sexual selection in Drosophila serrata

2021 ◽  
Vol 288 (1960) ◽  
Author(s):  
Adam J. Reddiex ◽  
Stephen F. Chenoweth
Keyword(s):  
Sexual Selection ◽  
Quantitative Genetics ◽  
Genome Wide Association Study ◽  
Mutational Bias ◽  
Stabilizing Selection ◽  
Genetic Constraints ◽  
Selection Gradients ◽  
Selection Responses ◽  
Drosophila Serrata ◽  
Potential Factors

In evolutionary quantitative genetics, the genetic variance–covariance matrix, G , and the vector of directional selection gradients, β , are key parameters for predicting multivariate selection responses and genetic constraints. Historically, investigations of G and β have not overlapped with those dissecting the genetic basis of quantitative traits. Thus, it remains unknown whether these parameters reflect pleiotropic effects at individual loci. Here, we integrate multivariate genome-wide association study (GWAS) with G and β estimation in a well-studied system of multivariate constraint: sexual selection on male cuticular hydrocarbons (CHCs) in Drosophila serrata . In a panel of wild-derived re-sequenced lines, we augment genome-based restricted maximum likelihood to estimate G alongside multivariate single nucleotide polymorphism (SNP) effects, detecting 532 significant associations from 1 652 276 SNPs. Constraint was evident, with β lying in a direction of G with low evolvability. Interestingly, minor frequency alleles typically increased male CHC-attractiveness suggesting opposing natural selection on β . SNP effects were significantly misaligned with the major eigenvector of G , g max , but well aligned to the second and third eigenvectors g 2 and g 3 . We discuss potential factors leading to these varied results including multivariate stabilizing selection and mutational bias. Our framework may be useful as researchers increasingly access genomic methods to study multivariate selection responses in wild populations.

scholarly journals On the environmental zero-point problem in microevolutionary climate response predictions

2022 ◽  
Author(s):  
Rolf Ergon
Keyword(s):  
Phenotypic Plasticity ◽  
Zero Point ◽  
Mean Value ◽  
Environmental Data ◽  
Global Maximum ◽  
Point Problem ◽  
Microevolutionary Change ◽  
Mean Fitness ◽  
The Mean ◽  
Parameter Values

It is well documented that populations adapt to climate change by means of phenotypic plasticity, but few reports on adaptation by means of genetically based microevolution caused by selection. Disentanglement of these separate effects requires that the environmental zero-point is defined, and this should not be done arbitrarily. Together with parameter values, the zero-point can be estimated from environmental, phenotypic and fitness data. A prediction error method for this purpose is described, with the feasibility shown by simulations. An estimated environmental zero-point may have large errors, especially for small populations, but may still be a better choice than use of an initial environmental value in a recorded time series, or the mean value, which is often used. Another alternative may be to use the mean value of a past and stationary stochastic environment, which the population is judged to have been fully adapted to, in the sense that the mean fitness was at a global maximum. An exception is here cases with constant phenotypic plasticity, where the microevolutionary change per generation follows directly from phenotypic and environmental data, independent of the chosen environmental zero-point.

scholarly journals On the distribution of the mean and variance of a quantitative trait under mutation-selection-drift balance.

Genetics ◽  
1994 ◽  
Vol 138 (3) ◽  
pp. 901-912 ◽  
Author(s):  
R Bürger ◽  
R Lande
Keyword(s):  
Genetic Drift ◽  
Quantitative Trait ◽  
Quantitative Traits ◽  
Genetic Variance ◽  
Stochastic Simulations ◽  
Stabilizing Selection ◽  
Phenotypic Evolution ◽  
Theoretical Predictions ◽  
Mean And Variance ◽  
The Mean

Abstract The distributions of the mean phenotype and of the genetic variance of a polygenic trait under a balance between mutation, stabilizing selection and genetic drift are investigated. This is done by stochastic simulations in which each individual and each gene are represented. The results are compared with theoretical predictions. Some aspects of the existing theories for the evolution of quantitative traits are discussed. The maintenance of genetic variance and the average dynamics of phenotypic evolution in finite populations (with Ne < 1000) are generally simpler than those suggested by some recent deterministic theories for infinite populations.

Long-period modulated superstructures in Pd-12.5 at.%Ce and Pd-15 at.%Ce alloys

1990 ◽  
Vol 48 (4) ◽  
pp. 164-165
Author(s):  
Noriyuki Kuwano ◽  
Masaru Itakura ◽  
Kensuke Oki
Keyword(s):  
Electron Microscopy ◽  
Mean Value ◽  
Heavy Elements ◽  
Arc Furnace ◽  
X Ray ◽  
Long Period ◽  
Ultra High Purity ◽  
Heat Treated ◽  
Atomic Scattering ◽  
The Mean

Pd-Ce alloys exhibit various anomalies in physical properties due to mixed valences of Ce, and the anomalies are thought to be strongly related with the crystal structures. Since Pd and Ce are both heavy elements, relative magnitudes of (fcc-fpd) are so small compared with <f> that superlattice reflections, even if any, sometimes cannot be detected in conventional x-ray powder patterns, where fee and fpd are atomic scattering factors of Ce and Pd, and <f> the mean value in the crystal. However, superlattices in Pd-Ce alloys can be analyzed by electron microscopy, thanks to the high detectability of electron diffraction. In this work, we investigated modulated superstructures in alloys with 12.5 and 15.0 at.%Ce.Ingots of Pd-Ce alloys were prepared in an arc furnace under atmosphere of ultra high purity argon. The disc specimens cut out from the ingots were heat-treated in vacuum and electrothinned to electron transparency by a jet method.

Partition Coefficient Ratios and Tumour Perfusion Studied with 85mKr and 133Xe

1987 ◽  
Vol 26 (06) ◽  
pp. 253-257
Author(s):  
M. Mäntylä ◽  
J. Perkkiö ◽  
J. Heikkonen
Keyword(s):  
Partition Coefficient ◽  
Partition Coefficients ◽  
Regional Blood Flow ◽  
Blood Perfusion ◽  
Compartmental Analysis ◽  
Malignant Tumour ◽  
Mean Value ◽  
Perfusion Rate ◽  
Biological Variables ◽  
The Mean

The relative partition coefficients of krypton and xenon, and the regional blood flow in 27 superficial malignant tumour nodules in 22 patients with diagnosed tumours were measured using the 85mKr- and 133Xe-clearance method. In order to minimize the effect of biological variables on the measurements the radionuclides were injected simultaneously into the tumour. The distribution of the radiotracers was assumed to be in equilibrium at the beginning of the experiment. The blood perfusion was calculated by fitting a two-exponential function to the measuring points. The mean value of the perfusion rate calculated from the xenon results was 13 ± 10 ml/(100 g-min) [range 3 to 38 ml/(100 g-min)] and from the krypton results 19 ± 11 ml/(100 g-min) [range 5 to 45 ml/(100 g-min)]. These values were obtained, if the partition coefficients are equal to one. The equations obtained by using compartmental analysis were used for the calculation of the relative partition coefficient of krypton and xenon. The partition coefficient of krypton was found to be slightly smaller than that of xenon, which may be due to its smaller molecular weight.

Detection of Soluble Fibrin Monomer Complexes in Blood by Means of Protamine Sulphate Test

1968 ◽  
Vol 20 (01/02) ◽  
pp. 044-049 ◽  
Author(s):  
B Lipiński ◽  
K Worowski
Keyword(s):  
Human Subjects ◽  
Coronary Thrombosis ◽  
Mean Value ◽  
Healthy Human ◽  
Protamine Sulphate ◽  
Soluble Fibrin ◽  
Fibrin Monomer ◽  
Dog Plasma ◽  
The Mean ◽  
Precipitable Protein

SummaryIn the present paper described is a simple test for detecting soluble fibrin monomer complexes (SFMC) in blood. The test consists in mixing 1% protamine sulphate with diluted oxalated plasma or serum and reading the optical density at 6190 Å. In experiments with dog plasma, enriched with soluble fibrin complexes, it was shown that OD read in PS test is proportional to the amount of fibrin recovered from the precipitate. It was found that SFMC level in plasma increases in rabbits infused intravenously with thrombin and decreases after injection of plasmin with streptokinase. In both cases PS precipitable protein in serum is elevated indicating enhanced fibrinolysis. In healthy human subjects the mean value of OD readings in plasma and sera were found to be 0.30 and 0.11, while in patients with coronary thrombosis they are 0.64 and 0.05 respectively. The origin of SFMC in circulation under physiological and pathological conditions is discussed.

Detection of Circulating Tissue Factor and Factor VII in a Normal Population

1996 ◽  
Vol 75 (05) ◽  
pp. 772-777 ◽  
Author(s):  
Sybille Albrecht ◽  
Matthias Kotzsch ◽  
Gabriele Siegert ◽  
Thomas Luther ◽  
Heinz Großmann ◽  
...  
Keyword(s):  
Tissue Factor ◽  
Normal Population ◽  
Mean Value ◽  
Factor Vii ◽  
Significant Difference ◽  
Age Dependent ◽  
The Mean ◽  
Highly Correlated ◽  
And Gender

SummaryThe plasma tissue factor (TF) concentration was correlated to factor VII concentration (FVIIag) and factor VII activity (FVIIc) in 498 healthy volunteers ranging in age from 17 to 64 years. Immunoassays using monoclonal antibodies (mAbs) were developed for the determination of TF and FVIIag in plasma. The mAbs and the test systems were characterized. The mean value of the TF concentration was 172 ± 135 pg/ml. TF showed no age- and gender-related differences. For the total population, FVIIc, determined by a clotting test, was 110 ± 15% and the factor VIlag was 0.77 ± 0.19 μg/ml. FVII activity was significantly increased with age, whereas the concentration demonstrated no correlation to age in this population. FVII concentration is highly correlated with the activity as measured by clotting assay using rabbit thromboplastin. The ratio between FVIIc and FVIIag was not age-dependent, but demonstrated a significant difference between men and women. Between TF and FVII we could not detect a correlation.

Determination of Plasminogen in Clots and Thrombi

1966 ◽  
Vol 16 (01/02) ◽  
pp. 038-050 ◽  
Author(s):  
Ulla Hedner ◽  
Inga Marie Nilsson ◽  
B Robertson
Keyword(s):  
Mean Value ◽  
Main Mechanism ◽  
Clot Lysis ◽  
Post Mortem ◽  
Digestion Time ◽  
Normal Volunteers ◽  
Casein Solution ◽  
The Mean

SummaryThe plasminogen content was determined by a casein method in plasma and serum from 20 normal volunteers. The mean plasminogen content was found to be 10.1 ACU (the arbitrary caseinolytic unit defined in such a way that using a 3% casein solution and a digestion time of 20 min. at 37°C, 10 ACU gave an extinction of 0.300). No difference between serum and plasma regarding the plasminogen content was found.Plasminogen was determined in drained and drained plus washed clots prepared from 2 ml plasma. The highest values found in the drained clots were 0.9 ACU/clot and 0.2 ACU/clot in the drained plus washed clots.Plasminogen was also determined in drained and drained plus washed clots prepared from plasma with added purified plasminogen. The plasminogen was recovered in the washing fluid. According to these tests, then, purified added plasminogen is washed out of the clots.The plasminogen content of 20 thrombi obtained post mortem was also determined. The mean value was found to be 0.7 ACU/cm thrombus. Judging from our results, the “intrinsic clot lysis theory” is not the main mechanism of clot dissolution.

Perbedaan Pengetahuan Siswa Tentang Penyakit Hepatitis A Sebelum Dan Sesudah Penyuluhan Di MTsN 02 Bondowoso Tahun 2015

2017 ◽  
Vol 4 (2) ◽  
pp. 14
Author(s):  
Putri Megasari
Keyword(s):  
Hepatitis A ◽  
Hepatitis Virus ◽  
Sampling Technique ◽  
Mean Value ◽  
Test Design ◽  
The World ◽  
Before And After ◽  
Post Test ◽  
The Mean ◽  
Paired T Test

Hepatitis has become a health problem in the world. The hepatitis virus infected many people. According to the teacher of MTsN 02 Bondowoso more than 20 students have hepatitis A viral infection. The purpose of this research was to know the differences of students' knowledge about hepatitis A before and after counseling in MTsN 02 Bondowoso 2015. This study used pre-experimental (pre-post test design). This study used stratified random sampling technique, 127 students from 270 sample involved this research,and 143 students was excluded. We used questionnaires to collect data. The results showed that the mean value of the students 'knowledge about hepatitis A before counseling in MTsN 02 Bondowoso 2015 was 83.96 with the lowest value of 37.5 and the highest value was 100. The mean value of the students' knowledge about hepatitis A after counseling in MTsN 02 Bondowoso 2015 was 93.21 with the lowest value waf 62.5 and the highest value was 100. Paired t test showed that t (-9.07) > t table (1.98), the null hypothesis (H0) was rejected. There was a difference between students' knowledge about hepatitis A before and after counseling in MTsN 02 Bondowoso 2015. This study showed that routine counseling by healthcare provider was important to prevent hepatitis A infection.; Keywords: counseling, knowledge of students, hepatitis

SERUM THYROTROPHIN AND THE RESPONSE TO THYROTROPHIN RELEASING HORMONE IN SYMPTOMLESS AUTOIMMUNE THYROIDITIS AND IN BORDERLINE AND OVERT HYPOTHYROIDISM

1974 ◽  
Vol 75 (2) ◽  
pp. 274-285 ◽  
Author(s):  
A. Gordin ◽  
P. Saarinen ◽  
R. Pelkonen ◽  
B.-A. Lamberg
Keyword(s):  
Autoimmune Thyroiditis ◽  
Elevated Serum ◽  
Mean Value ◽  
Primary Hypothyroidism ◽  
Overt Hypothyroidism ◽  
Thyrotrophin Releasing Hormone ◽  
Releasing Hormone ◽  
The Mean ◽  
The Individual ◽  
Serum Tsh

ABSTRACT Serum thyrotrophin (TSH) was determined by the double-antibody radioimmunoassay in 58 patients with primary hypothyroidism and was found to be elevated in all but 2 patients, one of whom had overt and one clinically borderline hypothyroidism. Six (29%) out of 21 subjects with symptomless autoimmune thyroiditis (SAT) had an elevated serum TSH level. There was little correlation between the severity of the disease and the serum TSH values in individual cases. However, the mean serum TSH value in overt hypothyroidism (93.4 μU/ml) was significantly higher than the mean value both in clinically borderline hypothyroidism (34.4 μU/ml) and in SAT (8.8 μU/ml). The response to the thyrotrophin-releasing hormone (TRH) was increased in all 39 patients with overt or borderline hypothyroidism and in 9 (43 %) of the 21 subjects with SAT. The individual TRH response in these two groups showed a marked overlap, but the mean response was significantly higher in overt (149.5 μU/ml) or clinically borderline hypothyroidism (99.9 μU/ml) than in SAT (35.3 μU/ml). Thus a normal basal TSH level in connection with a normal response to TRH excludes primary hypothyroidism, but nevertheless not all patients with elevated TSH values or increased responses to TRH are clinically hypothyroid.

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