scholarly journals Sex differences in deleterious genetic variants in a haplodiploid social insect

2021 ◽  
Author(s):  
Sara E. Miller ◽  
Michael J. Sheehan
Keyword(s):  
Genetic Load ◽  
Low Frequency ◽  
Paper Wasp ◽  
Deleterious Mutations ◽  
Wild Populations ◽  
Nonsense Mutations ◽  
Low Frequencies ◽  
Complete Dominance ◽  
Deleterious Alleles ◽  
Population Allele Frequency

AbstractDeleterious variants are selected against but can linger in populations at low frequencies for long periods of time, decreasing fitness and contributing to disease burden in humans and other species. Deleterious variants occur at low frequency but distinguishing deleterious variants from low frequency neutral variation is challenging based on population genetics data. As a result, we have little sense of the number and identity of deleterious variants in wild populations. For haplodiploid species, it has been hypothesized that deleterious alleles will be directly exposed to selection in haploid males, but selection can be masked in diploid females due to partial or complete dominance, resulting in more efficient purging of deleterious mutations in males. Therefore, comparisons of the differences between haploid and diploid genomes from the same population may be a useful method for inferring rare deleterious variants. This study provides the first formal test of this hypothesis. Using wild populations of Northern paper wasps (Polistes fuscatus), we find that males have fewer overall variants, and specifically fewer missense and nonsense variants, than females from the same population. Allele frequency differences are especially pronounced for rare missense and nonsense mutations and these differences lead to a lower genetic load in males than females. Based on these data we estimate that a large number of highly deleterious mutations are segregating in the paper wasp population. Stronger selection against deleterious alleles in haploid males may have implications for adaptation in other haplodiploid insects and provides evidence that wild populations harbor abundant deleterious variants.

scholarly journals Sexual selection and inbreeding: two efficient ways to limit the accumulation of deleterious mutations

2018 ◽  
Author(s):  
E. Noël ◽  
E. Fruitet ◽  
D. Lelaurin ◽  
N. Bonel ◽  
A. Ségard ◽  
...  
Keyword(s):  
Sexual Selection ◽  
Experimental Evolution ◽  
Genetic Load ◽  
Deleterious Mutations ◽  
Mutation Load ◽  
Male Function ◽  
Female Function ◽  
Deleterious Alleles ◽  
Self Fertilization ◽  
Male Specific

AbstractTheory and empirical data showed that two processes can boost selection against deleterious mutations, thus facilitating the purging of the mutation load: inbreeding, by exposing recessive deleterious alleles to selection in homozygous form, and sexual selection, by enhancing the relative reproductive success of males with small mutation loads. These processes tend to be mutually exclusive because sexual selection is reduced under mating systems that promote inbreeding, such as self-fertilization in hermaphrodites. We estimated the relative efficiency of inbreeding and sexual selection at purging the genetic load, using 50 generations of experimental evolution, in a hermaphroditic snail (Physa acuta). To this end, we generated lines that were exposed to various intensities of inbreeding, sexual selection (on the male function) and nonsexual selection (on the female function). We measured how these regimes affected the mutation load, quantified through the survival of outcrossed and selfed juveniles. We found that juvenile survival strongly decreased in outbred lines with reduced male selection, but not when female selection was relaxed, showing that male-specific sexual selection does purge deleterious mutations. However, in lines exposed to inbreeding, where sexual selection was also relaxed, survival did not decrease, and even increased for self-fertilized juveniles, showing that purging through inbreeding can compensate for the absence of sexual selection. Our results point to the further question of whether a mixed strategy combining the advantages of both mechanisms of genetic purging could be evolutionary stable.

scholarly journals Selection against males in Caenorhabditis elegans under two mutational treatments

2006 ◽  
Vol 274 (1608) ◽  
pp. 417-424 ◽  
Author(s):  
Diogo Manoel ◽  
Sara Carvalho ◽  
Patrick C Phillips ◽  
Henrique Teotónio
Keyword(s):  
Caenorhabditis Elegans ◽  
Mating Systems ◽  
Low Frequency ◽  
Nematode Species ◽  
Mixed Mating ◽  
Low Frequencies ◽  
Deleterious Alleles ◽  
Ethylmethane Sulphonate ◽  
The Cost ◽  
The Relationship

Within populations with mixed mating systems, selfing is expected to be favoured over outcrossing unless a countervailing process such as severe inbreeding depression is present. In this study, we consider the relationship between the expression of deleterious alleles and the maintenance of outcrossing in the nematode species, Caenorhabditis elegans . This species is characterized by an androdioecious breeding system composed of males at low frequency and self-fertilizing hermaphrodites that can only outcross via males. Here, we find that experimentally increasing the mutational load in four different isogenic wild isolates using 10 generations of Ethylmethane sulphonate (EMS) and UV irradiation mutagenesis significantly diminishes the cost of males. Males are maintained at higher frequencies in mutagenized versus non-mutagenized populations. Nevertheless, males still tend to be driven to low frequencies within isolates that are known to be prone to lose males. Further, we determine the viability effects of a single round of mutagen exposure and find that, for EMS, outcrossing overcomes the almost completely recessive and nearly lethal effects generated. We briefly interpret our results in light of current evolutionary theory of outcrossing rates.

scholarly journals MAINTENANCE OF GENETIC VARIABILITY UNDER THE PRESSURE OF NEUTRAL AND DELETERIOUS MUTATIONS IN A FINITE POPULATION

Genetics ◽  
1979 ◽  
Vol 92 (2) ◽  
pp. 647-667
Author(s):  
Wen-Hsiung Li
Keyword(s):  
Frequency Spectrum ◽  
Intermediate Frequency ◽  
Deleterious Mutations ◽  
Low Frequencies ◽  
Deleterious Alleles ◽  
Genic Variation ◽  
Controversial Problem ◽  
The Mean ◽  
Neutral Mutations ◽  
A Minor

ABSTRACT In order to assess the effect of deleterious mutations on various measures of genic variation, approximate formulas have been developed for the frequency spectrum, the mean number of alleles in a sample, and the mean homozy-gosity; in some particular cases, exact formulas have been obtained. The assumptions made are that two classes of mutations exist, neutral and deleterious, and that selection is strong enough to keep deleterious alleles in low frequencies, the mode of selection being either genic or recessive. The main findings are: (1) If the expected value () of the sum of the frequencies of deleterious alleles is about 10% or less, then the presence of deleterious alleles causes only a minor reduction in the mean number of neutral alleles ir, a sample, as compared to the case of = 0. Also, the low- and intermediate-frequency parts of the frequency spectrum of neutral alleles are little affected by the presence of deleterious alleles, though the high-frequency part may be changed drastically. (2) The contribution of deleterious mutations to the expected total number of alleles in a sample can be quite large even if is only 1 or 2%. (3) The mean homozygosity is roughly equal to (1-2)/(1+λ  1), where λ  1, is twice the number of new neutral mutations occurring in each generation in the total population. Thus, deleterious mutations increase the mean heterozygosity by about 2/ (1 +λ  1). The present results have been applied to study the controversial problem of how deleterious mutations may affect the testing of the neutral mutation hypothesis.

The Impact of Lethal Recessive Alleles on Bottlenecks with Implications for Conservation Genetics

2016 ◽  
Author(s):  
R. B. Campbell
Keyword(s):  
Large Population ◽  
Genetic Load ◽  
Ancestral Population ◽  
Deleterious Mutations ◽  
Recessive Mutations ◽  
Deleterious Alleles ◽  
Endangered Population ◽  
Population Breeding ◽  
The Cost ◽  
The Impact

AbstractWhen a bottleneck occurs, lethal recessive alleles from the ancestral population provide a genetic load. The purging of lethal recessive mutations may prolong the bottleneck, or even cause the population to become extinct. But the purging is of short duration, it will be over before near neutral deleterious alleles accumulate. Lethal recessive alleles from the parental population and near neutral deleterious mutations which occur during a bottleneck are temporally separated threats to the survival of a population. Breeding individuals from a large population into a small endangered population will provide the benefit of viable alleles to replace near neutral deleterious alleles but also the cost of lethal recessive mutations from the large population.

scholarly journals Assessment of the gene mosaicism burden in blood and its implications for immune disorders

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Manuel Solís-Moruno ◽  
Anna Mensa-Vilaró ◽  
Laura Batlle-Masó ◽  
Irene Lobón ◽  
Núria Bonet ◽  
...  
Keyword(s):  
Whole Blood ◽  
Genetic Load ◽  
Low Frequency ◽  
Massive Parallel Sequencing ◽  
Sequencing Data ◽  
Somatic Variation ◽  
Low Frequencies ◽  
Parallel Sequencing ◽  
Negative Results ◽  
Relevant Role

AbstractThere are increasing evidences showing the contribution of somatic genetic variants to non-cancer diseases. However, their detection using massive parallel sequencing methods still has important limitations. In addition, the relative importance and dynamics of somatic variation in healthy tissues are not fully understood. We performed high-depth whole-exome sequencing in 16 samples from patients with a previously determined pathogenic somatic variant for a primary immunodeficiency and tested different variant callers detection ability. Subsequently, we explored the load of somatic variants in the whole blood of these individuals and validated it by amplicon-based deep sequencing. Variant callers allowing low frequency read thresholds were able to detect most of the variants, even at very low frequencies in the tissue. The genetic load of somatic coding variants detectable in whole blood is low, ranging from 1 to 2 variants in our dataset, except for one case with 17 variants compatible with clonal haematopoiesis under genetic drift. Because of the ability we demonstrated to detect this type of genetic variation, and its relevant role in disorders such as primary immunodeficiencies, we suggest considering this model of gene mosaicism in future genetic studies and considering revisiting previous massive parallel sequencing data in patients with negative results.

scholarly journals Genetic analysis of medfly populations in an area of sterile insect technique applications

2021 ◽  
Author(s):  
Rubén Sancho ◽  
Ana Guillem-Amat ◽  
Elena López-Errasquín ◽  
Lucas Sánchez ◽  
Félix Ortego ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Sterile Insect Technique ◽  
Ceratitis Capitata ◽  
Natural Populations ◽  
Low Frequency ◽  
Fruit Fly ◽  
Wild Populations ◽  
Genetic Sexing ◽  
Environmental Implications ◽  
Genetic Sexing Strains

AbstractThe sterile insect technique (SIT) is widely used in integrated pest management programs for the control of the Mediterranean fruit fly (medfly), Ceratitis capitata. The genetic interactions between the released individuals from the genetic sexing strains (GSS), used for SIT applications worldwide, and wild individuals have not been studied. Under the hypothesis that a number of Vienna GSS individuals released to the field might not be completely sterile and may produce viable offspring, we have analyzed medfly Spanish field populations to evaluate the presence of Vienna strain genetic markers. To this goal, we have used contrasted nuclear and mitochondrial genetic markers, and two novel sets of nuclear polymorphisms with the potential to be markers to discriminate between Vienna and wild individuals. Nuclear Vienna markers located on the 5th chromosome of Vienna males have been found in 2.2% (19 from 875) of the Spanish wild medfly females captured at the area where SIT is applied. In addition, a female-inherited mitochondrial Vienna marker has been found in two from the 19 females showing nuclear Vienna markers. The detection of several of these markers in single individuals represents evidence of the introgression of Vienna strain into natural populations. However, alternative explanations as their presence at low frequency in wild populations in the studied areas cannot be fully discarded. The undesired release of non-fully sterile irradiated GSS individuals into the field and their interactions with wild flies, and the potential environmental implications should be taken into account in the application of the SIT.

scholarly journals Earless toads sense low frequencies but miss the high notes

2017 ◽  
Vol 284 (1864) ◽  
pp. 20171670 ◽  
Author(s):  
Molly C. Womack ◽  
Jakob Christensen-Dalsgaard ◽  
Luis A. Coloma ◽  
Juan C. Chaparro ◽  
Kim L. Hoke
Keyword(s):  
High Frequency ◽  
Species Differences ◽  
Low Frequency ◽  
Auditory Brainstem ◽  
Low Frequencies ◽  
Hearing Sensitivity ◽  
Sensory Pathways ◽  
Airborne Sound ◽  
Vibrational Sensitivity ◽  
Species Specific

Sensory losses or reductions are frequently attributed to relaxed selection. However, anuran species have lost tympanic middle ears many times, despite anurans' use of acoustic communication and the benefit of middle ears for hearing airborne sound. Here we determine whether pre-existing alternative sensory pathways enable anurans lacking tympanic middle ears (termed earless anurans) to hear airborne sound as well as eared species or to better sense vibrations in the environment. We used auditory brainstem recordings to compare hearing and vibrational sensitivity among 10 species (six eared, four earless) within the Neotropical true toad family (Bufonidae). We found that species lacking middle ears are less sensitive to high-frequency sounds, however, low-frequency hearing and vibrational sensitivity are equivalent between eared and earless species. Furthermore, extratympanic hearing sensitivity varies among earless species, highlighting potential species differences in extratympanic hearing mechanisms. We argue that ancestral bufonids may have sufficient extratympanic hearing and vibrational sensitivity such that earless lineages tolerated the loss of high frequency hearing sensitivity by adopting species-specific behavioural strategies to detect conspecifics, predators and prey.

A waveform inversion technique for measuring elastic wave attenuation in cylindrical bars

Geophysics ◽  
1992 ◽  
Vol 57 (6) ◽  
pp. 854-859 ◽  
Author(s):  
Xiao Ming Tang
Keyword(s):  
Elastic Wave ◽  
Wave Attenuation ◽  
Waveform Inversion ◽  
Finite Size ◽  
Low Frequency ◽  
Frequency Range ◽  
Multiple Reflections ◽  
Low Frequencies ◽  
The Time Domain ◽  
Attenuation Values

A new technique for measuring elastic wave attenuation in the frequency range of 10–150 kHz consists of measuring low‐frequency waveforms using two cylindrical bars of the same material but of different lengths. The attenuation is obtained through two steps. In the first, the waveform measured within the shorter bar is propagated to the length of the longer bar, and the distortion of the waveform due to the dispersion effect of the cylindrical waveguide is compensated. The second step is the inversion for the attenuation or Q of the bar material by minimizing the difference between the waveform propagated from the shorter bar and the waveform measured within the longer bar. The waveform inversion is performed in the time domain, and the waveforms can be appropriately truncated to avoid multiple reflections due to the finite size of the (shorter) sample, allowing attenuation to be measured at long wavelengths or low frequencies. The frequency range in which this technique operates fills the gap between the resonant bar measurement (∼10 kHz) and ultrasonic measurement (∼100–1000 kHz). By using the technique, attenuation values in a PVC (a highly attenuative) material and in Sierra White granite were measured in the frequency range of 40–140 kHz. The obtained attenuation values for the two materials are found to be reliable and consistent.

Methods to isolate retrograde and prograde Rayleigh-wave signals

2019 ◽  
Vol 219 (2) ◽  
pp. 975-994 ◽  
Author(s):  
Gabriel Gribler ◽  
T Dylan Mikesell
Keyword(s):  
Rayleigh Wave ◽  
Time Domain ◽  
Fundamental Mode ◽  
Poisson Ratio ◽  
Low Frequency ◽  
Wave Dispersion ◽  
Low Frequencies ◽  
Retrograde Motion ◽  
Mode Identification ◽  
Time Frequency

SUMMARY Estimating shear wave velocity with depth from Rayleigh-wave dispersion data is limited by the accuracy of fundamental and higher mode identification and characterization. In many cases, the fundamental mode signal propagates exclusively in retrograde motion, while higher modes propagate in prograde motion. It has previously been shown that differences in particle motion can be identified with multicomponent recordings and used to separate prograde from retrograde signals. Here we explore the domain of existence of prograde motion of the fundamental mode, arising from a combination of two conditions: (1) a shallow, high-impedance contrast and (2) a high Poisson ratio material. We present solutions to isolate fundamental and higher mode signals using multicomponent recordings. Previously, a time-domain polarity mute was used with limited success due to the overlap in the time domain of fundamental and higher mode signals at low frequencies. We present several new approaches to overcome this low-frequency obstacle, all of which utilize the different particle motions of retrograde and prograde signals. First, the Hilbert transform is used to phase shift one component by 90° prior to summation or subtraction of the other component. This enhances either retrograde or prograde motion and can increase the mode amplitude. Secondly, we present a new time–frequency domain polarity mute to separate retrograde and prograde signals. We demonstrate these methods with synthetic and field data to highlight the improvements to dispersion images and the resulting dispersion curve extraction.

Optimally Sensitive and Efficient Compact Loudspeakers for Low Audio Frequencies

2007 ◽  
Vol 38 (7) ◽  
pp. 11-17
Author(s):  
Ronald M. Aarts
Keyword(s):  
Optimality Criterion ◽  
Low Frequency ◽  
Audio Signal ◽  
Design Procedure ◽  
Frequency Range ◽  
Force Factor ◽  
Low Frequencies ◽  
Limited Frequency ◽  
The Cost ◽  
Higher Sensitivity

Conventionally, the ultimate goal in loudspeaker design has been to obtain a flat frequency response over a specified frequency range. This can be achieved by carefully selecting the main loudspeaker parameters such as the enclosure volume, the cone diameter, the moving mass and the very crucial “force factor”. For loudspeakers in small cabinets the results of this design procedure appear to be quite inefficient, especially at low frequencies. This paper describes a new solution to this problem. It consists of the combination of a highly non-linear preprocessing of the audio signal and the use of a so called low-force-factor loudspeaker. This combination yields a strongly increased efficiency, at least over a limited frequency range, at the cost of a somewhat altered sound quality. An analytically tractable optimality criterion has been defined and has been verified by the design of an experimental loudspeaker. This has a much higher efficiency and a higher sensitivity than current low-frequency loudspeakers, while its cabinet can be much smaller.

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