scholarly journals Characterization of genetic variation and natural selection at the arylamineN-acetyltransferase genes in global human populations

2011 ◽  
Vol 12 (11) ◽  
pp. 1545-1558 ◽  
Author(s):  
Holly M Mortensen ◽  
Alain Froment ◽  
Godfrey Lema ◽  
Jean-Marie Bodo ◽  
Muntaser Ibrahim ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Natural Selection ◽  
Human Populations

scholarly journals The emergence of latent infection in the early evolution of Mycobacterium tuberculosis

2016 ◽  
Vol 283 (1831) ◽  
pp. 20160499 ◽  
Author(s):  
Rebecca H. Chisholm ◽  
Mark M. Tanaka
Keyword(s):  
Mathematical Model ◽  
Immune Response ◽  
Mycobacterium Tuberculosis ◽  
Genetic Variation ◽  
Natural Selection ◽  
Natural History ◽  
Latent Infection ◽  
Human Populations ◽  
Safe Harbour ◽  
Active Disease

Mycobacterium tuberculosis has an unusual natural history in that the vast majority of its human hosts enter a latent state that is both non-infectious and devoid of any symptoms of disease. From the pathogen perspective, it seems counterproductive to relinquish reproductive opportunities to achieve a détente with the host immune response. However, a small fraction of latent infections reactivate to the disease state. Thus, latency has been argued to provide a safe harbour for future infections which optimizes the persistence of M. tuberculosis in human populations. Yet, if a pathogen begins interactions with humans as an active disease without latency, how could it begin to evolve latency properties without incurring an immediate reproductive disadvantage? We address this question with a mathematical model. Results suggest that the emergence of tuberculosis latency may have been enabled by a mechanism akin to cryptic genetic variation in that detrimental latency properties were hidden from natural selection until their expression became evolutionarily favoured.

Genetic Assimilation and the Paradox of Blind Variation

2017 ◽  
Author(s):  
Arnaud Pocheville ◽  
Étienne Danchin
Keyword(s):  
Genetic Variation ◽  
Natural Selection ◽  
Genetic Assimilation ◽  
Random Mutation ◽  
Empirical Claim ◽  
Hypothetical Mechanism

This chapter confronts the neo-Darwinian core tenet of blind variation, or random mutation, with classical and recent models of genetic assimilation. We first argue that all the mechanisms proposed so far rely on blind genetic variation fueling natural selection. Then, we examine a new hypothetical mechanism of genetic assimilation, relying on nonblind genetic variation. Yet, we show that such a model still relies on blind variation of some sort to explain adaptation. Last, we discuss the very meaning of the tenet of blind variation. We propose a formal characterization of the tenet and argue that it should not be understood solely as an empirical claim, but also as a core explanatory principle.

scholarly journals Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy

2016 ◽  
Author(s):  
Sean G. Byars ◽  
Qin Qin Huang ◽  
Lesley-Ann Gray ◽  
Samuli Ripatti ◽  
Gad Abraham ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Genetic Variation ◽  
Natural Selection ◽  
Coronary Artery ◽  
Positive Selection ◽  
Genetic Risk ◽  
Human Reproduction ◽  
Human Populations ◽  
Modern Humans ◽  
Artery Disease

AbstractTraditional genome-wide scans for positive selection have mainly uncovered selective sweeps associated with monogenic traits. While selection on quantitative traits is much more common, very few signals have been detected because of their polygenic nature. We searched for positive selection signals underlying coronary artery disease (CAD) in worldwide populations, using novel approaches to quantify relationships between polygenic selection signals and CAD genetic risk. We identified new candidate adaptive loci that appear to have been directly modified by disease pressures given their significant associations with CAD genetic risk. These candidates were all uniquely and consistently associated with many different male and female reproductive traits suggesting selection may have also targeted these because of their direct effects on fitness. This suggests the presence of widespread antagonistic-pleiotropic tradeoffs on CAD loci, which provides a novel explanation for the maintenance and high prevalence of CAD in modern humans. Lastly, we found that positive selection more often targeted CAD gene regulatory variants using HapMap3 lymphoblastoid cell lines, which further highlights the unique biological significance of candidate adaptive loci underlying CAD. Our study provides a novel approach for detecting selection on polygenic traits and evidence that modern human genomes have evolved in response to CAD-induced selection pressures and other early-life traits sharing pleiotropic links with CAD.Author SummaryHow genetic variation contributes to disease is complex, especially for those such as coronary artery disease (CAD) that develop over the lifetime of individuals. One of the fundamental questions about CAD — whose progression begins in young adults with arterial plaque accumulation leading to life-threatening outcomes later in life — is why natural selection has not removed or reduced this costly disease. It is the leading cause of death worldwide and has been present in human populations for thousands of years, implying considerable pressures that natural selection should have operated on. Our study provides new evidence that genes underlying CAD have recently been modified by natural selection and that these same genes uniquely and extensively contribute to human reproduction, which suggests that natural selection may have maintained genetic variation contributing to CAD because of its beneficial effects on fitness. This study provides novel evidence that CAD has been maintained in modern humans as a byproduct of the fitness advantages those genes provide early in human lifecycles.

scholarly journals Characterization of Deleterious Mutations in Outcrossing Populations

Genetics ◽  
1998 ◽  
Vol 150 (2) ◽  
pp. 945-956 ◽  
Author(s):  
Hong-Wen Deng
Keyword(s):  
Genetic Variation ◽  
Genetic Variance ◽  
Estimation Bias ◽  
Deleterious Mutations ◽  
Environmental Variance ◽  
Higher Power ◽  
Sib Mating ◽  
The Mean ◽  
Simulation Results

Abstract Deng and Lynch recently proposed estimating the rate and effects of deleterious genomic mutations from changes in the mean and genetic variance of fitness upon selfing/outcrossing in outcrossing/highly selfing populations. The utility of our original estimation approach is limited in outcrossing populations, since selfing may not always be feasible. Here we extend the approach to any form of inbreeding in outcrossing populations. By simulations, the statistical properties of the estimation under a common form of inbreeding (sib mating) are investigated under a range of biologically plausible situations. The efficiencies of different degrees of inbreeding and two different experimental designs of estimation are also investigated. We found that estimation using the total genetic variation in the inbred generation is generally more efficient than employing the genetic variation among the mean of inbred families, and that higher degree of inbreeding employed in experiments yields higher power for estimation. The simulation results of the magnitude and direction of estimation bias under variable or epistatic mutation effects may provide a basis for accurate inferences of deleterious mutations. Simulations accounting for environmental variance of fitness suggest that, under full-sib mating, our extension can achieve reasonably well an estimation with sample sizes of only ∼2000-3000.

scholarly journals Cryptic variation and its manifestation in the Lower Trentonian Rafinesquina lineage (Ordovician, New York State)

1992 ◽  
Vol 6 ◽  
pp. 292-292
Author(s):  
Robert Titus
Keyword(s):  
New York ◽  
Genetic Variation ◽  
Natural Selection ◽  
New York State ◽  
Ecological Factors ◽  
Stabilizing Selection ◽  
Rapid Population Growth ◽  
York State ◽  
Cryptic Variation ◽  
Adaptive Peak

Species populations commonly carry a great deal of genetic variation which is not expressed in individual phenotypes. Cryptic variation can be carried in recessive alleles, in cases of heterosis, or where modifier genes inhibit expression of the hidden trait. Other genetic and ecological factors also allow cryptic variation. Stabilizing selection prevents the expression of hidden traits; normalizing selection weeds out the deviants and canalizing selection suppresses their traits. Together the two keep the species near the top of the adaptive peak. Cryptic variation balances a species' need to be well-adapted to its environment and also for it to maintain a reserve of variation for potential environmental change. Expression of cryptic traits is rare and is usually associated with times of greatly reduced natural selection and rapid population growth, when the lower slopes of the adaptive peak are exposed.A possible example of the manifestation of cryptic traits occurs within the lower Trentonian Rafinesquina lineage of New York State. The two most commonly reported species of the genus have been reappraised in terms of cryptic variation. Extensive collections of Rafinesquina “lennoxensis” reveal far more intergrading morphotypes than had hitherto been recognized. The form which Salmon (1942) described is broadly U-shaped with sulcate margins. It grades into very convex forms as well as sharply-defined or convexly geniculate types. Of great importance, all forms grade into the flat, U-shaped, alate R. trentonensis, which is, by far, the most common and widespread lower Trentonian member of the genus. The R. “lennoxensis” assemblage has a very narrow biostratigraphy, being confined to a few locations in the upper Napanee Limestone. This places it in a quiet, protected, low stress, lagoonal setting behind the barrier shoal facies of the Kings Falls Limestone.The R. “lennoxensis” assemblage does not constitute a natural biologic species; it is reinterpreted as an assemblage of phenodeviants occupying a low stress, low natural selection lagoon facies. All such forms should be included within R. trentonensis. Given the evolutionary plasticity of this genus, extensive cryptic variation is not surprising.

scholarly journals A Conceptual Characterization of Online Videos Explaining Natural Selection

2017 ◽  
Vol 26 (7-9) ◽  
pp. 975-999 ◽  
Author(s):  
Gustav Bohlin ◽  
Andreas Göransson ◽  
Gunnar E. Höst ◽  
Lena A. E. Tibell
Keyword(s):  
Natural Selection ◽  
Online Videos

scholarly journals Evolution and evolvability: celebrating Darwin 200

2008 ◽  
Vol 5 (1) ◽  
pp. 44-46 ◽  
Author(s):  
John F.Y Brookfield
Keyword(s):  
Genetic Variation ◽  
Natural Selection ◽  
Time Scales ◽  
Evolutionary Change ◽  
Adaptive Mutation ◽  
Genetic Covariances ◽  
The Relationship ◽  
The Way

The concept of ‘evolvability’ is increasingly coming to dominate considerations of evolutionary change. There are, however, a number of different interpretations that have been put on the idea of evolvability, differing in the time scales over which the concept is applied. For some, evolvability characterizes the potential for future adaptive mutation and evolution. Others use evolvability to capture the nature of genetic variation as it exists in populations, particularly in terms of the genetic covariances between traits. In the latter use of the term, the applicability of the idea of evolvability as a measure of population's capacity to respond to natural selection rests on one, but not the only, view of the way in which we should envisage the process of natural selection. Perhaps the most potentially confusing aspects of the concept of evolvability are seen in the relationship between evolvability and robustness.

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