Supergene degeneration opposes polymorphism: The curious case of balanced lethals

2021 ◽  
Author(s):  
Emma Berdan ◽  
Alexandre Blanckaert ◽  
Roger K Butlin ◽  
Thomas Flatt ◽  
Tanja Slotte ◽  
...  
Keyword(s):  
Equilibrium State ◽  
Balancing Selection ◽  
Mutation Accumulation ◽  
Small Population ◽  
Quasi Equilibrium ◽  
Deleterious Mutations ◽  
Critical Factors ◽  
Critical Aspect ◽  
Allopatric Divergence

Supergenes offer some of the most spectacular examples of long-term balancing selection in nature but their origin and maintenance remain a mystery. A critical aspect of supergenes is reduced recombination between arrangements. Reduced recombination protects adaptive multi-trait phenotypes, but can also lead to degeneration through mutation accumulation. Mutation accumulation can stabilize the system through the emergence of associative overdominance (AOD), destabilize the system, or lead to new evolutionary outcomes. One such outcome is the formation of balanced lethal systems, a maladaptive system where both supergene arrangements have accumulated deleterious mutations to the extent that both homozygotes are inviable, leaving only heterozygotes to reproduce. Here, we perform a simulation study to understand the conditions under which these different outcomes occur, assuming a scenario of introgression after allopatric divergence. We found that AOD aids the invasion of a new supergene arrangement and the establishment of a polymorphism. However, this polymorphism is easily destabilized by further mutation accumulation. While degradation may strengthen AOD, thereby stabilizing the supergene polymorphism, it is often asymmetric, which is the key disrupter of the quasi-equilibrium state of the polymorphism. Furthermore, mechanisms that accelerate degeneration also tend to amplify asymmetric mutation accumulation between the supergene arrangements and vice versa. As the evolution of a balanced lethal system requires symmetric degradation of both arrangements, this leaves highly restricted conditions under which such a system could evolve. We show that small population size and low dominance coefficients are critical factors, as these reduce the efficacy of selection. The dichotomy between the persistence of a polymorphism and degradation of supergene arrangements likely underlies the rarity of balanced lethal systems in nature.

Reports From the Field: “Vini Ansanm” Come Together for Inclusive Community Music Development in Port-au-Prince, Haiti

2020 ◽  
pp. 273-289
Author(s):  
Donald DeVito ◽  
Gertrude Bien-Aime ◽  
Hannah Ehrli ◽  
Jamie Schumacher
Keyword(s):  
Social Media ◽  
Inclusive Education ◽  
Children With Disabilities ◽  
Small Population ◽  
Significant Loss ◽  
Community Music ◽  
Music Learning ◽  
Loss Of Life

Haiti has experienced a series of catastrophic natural disasters in recent decades, resulting in significant loss of life and long-term damage to infrastructure. One critical outcome of these disasters is that there are approximately 400,000 orphans in the small population of just over 10 million. Throughout Haiti, children with disabilities are often considered cursed, and thus are rejected by the community in which they live. Haitian children with disabilities need creative and educational activities that will help them grow, develop, enjoy their lives, and become accepted members of the community. This chapter on the Haitian Center for Inclusive Education presents a case study of social media engagement and music learning, with an emphasis on social justice that has contributed to sustainable efforts.

scholarly journals On the Rate and Linearity of Viability Declines in Drosophila Mutation-Accumulation Experiments: Genomic Mutation Rates and Synergistic Epistasis Revisited

Genetics ◽  
2004 ◽  
Vol 166 (2) ◽  
pp. 797-806 ◽  
Author(s):  
James D Fry
Keyword(s):  
Mutation Rate ◽  
Average Rate ◽  
Natural Populations ◽  
Mutation Accumulation ◽  
High Rate ◽  
Deleterious Mutations ◽  
Order Of Magnitude ◽  
Contamination Event ◽  
Genomic Mutation ◽  
The 1960S

Abstract High rates of deleterious mutations could severely reduce the fitness of populations, even endangering their persistence; these effects would be mitigated if mutations synergize each others’ effects. An experiment by Mukai in the 1960s gave evidence that in Drosophila melanogaster, viability-depressing mutations occur at the surprisingly high rate of around one per zygote and that the mutations interact synergistically. A later experiment by Ohnishi seemed to support the high mutation rate, but gave no evidence for synergistic epistasis. Both of these studies, however, were flawed by the lack of suitable controls for assessing viability declines of the mutation-accumulation (MA) lines. By comparing homozygous viability of the MA lines to simultaneously estimated heterozygous viability and using estimates of the dominance of mutations in the experiments, I estimate the viability declines relative to an appropriate control. This approach yields two unexpected conclusions. First, in Ohnishi’s experiment as well as in Mukai’s, MA lines showed faster-than-linear declines in viability, indicative of synergistic epistasis. Second, while Mukai’s estimate of the genomic mutation rate is supported, that from Ohnishi’s experiment is an order of magnitude lower. The different results of the experiments most likely resulted from differences in the starting genotypes; even within Mukai’s experiment, a subset of MA lines, which I argue probably resulted from a contamination event, showed much slower viability declines than did the majority of lines. Because different genotypes may show very different mutational behavior, only studies using many founding genotypes can determine the average rate and distribution of effects of mutations relevant to natural populations.

scholarly journals The Rate of Mutation and the Homozygous and Heterozygous Mutational Effects for Competitive Viability: A Long-Term Experiment With Drosophila melanogaster

Genetics ◽  
2001 ◽  
Vol 158 (2) ◽  
pp. 681-693 ◽  
Author(s):  
David Chavarrías ◽  
Carlos López-Fanjul ◽  
Aurora García-Dorado
Keyword(s):  
Drosophila Melanogaster ◽  
Minimum Distance ◽  
Deleterious Mutations ◽  
Regression Estimate ◽  
Term Experiment ◽  
Degree Of Dominance ◽  
Long Term Experiment ◽  
Rate Of Decline ◽  
Good Agreement

Abstract The effect of 250 generations of mutation accumulation (MA) on the second chromosome competitive viability of Drosophila melanogaster was analyzed both in homozygous and heterozygous conditions. We used full-sib MA lines, where selection hampers the accumulation of severely deleterious mutations but is ineffective against mildly deleterious ones. A large control population was simultaneously evaluated. Competitive viability scores, unaffected by the expression of mutations in heterozygosis, were obtained relative to a Cy/L2 genotype. The rate of decline in mean ΔM ≈ 0.1% was small. However, that of increase in variance ΔV ≈ 0.08 × 10-3 was similar to the values obtained in previous experiments when severely deleterious mutations were excluded. The corresponding estimates of the mutation rate λ ≥ 0.01 and the average effect of mutations E(s) ≤ 0.08 are in good agreement with Bateman-Mukai and minimum distance estimates for noncompetitive viability obtained from the same MA lines after 105 generations. Thus, competitive and noncompetitive viability show similar mutational properties. The regression estimate of the degree of dominance for mild-to-moderate deleterious mutations was ∼0.3, suggesting that the pertinent value for new unselected mutations should be somewhat smaller.

scholarly journals Recent Selection Changes in Human Genes under Long-Term Balancing Selection

2016 ◽  
Vol 33 (6) ◽  
pp. 1435-1447 ◽  
Author(s):  
Cesare de Filippo ◽  
Felix M. Key ◽  
Silvia Ghirotto ◽  
Andrea Benazzo ◽  
Juan R. Meneu ◽  
...  
Keyword(s):  
Balancing Selection ◽  
Human Genes ◽  
Recent Selection

Time-Budgets of Camargue Horses Ii. Time-Budgets of Adult Horses and Weaned Sub-Adults

Behaviour ◽  
1980 ◽  
Vol 72 (1-2) ◽  
pp. 26-48 ◽  
Author(s):  
Patrick Duncan
Keyword(s):  
Social Structure ◽  
Social System ◽  
General Trend ◽  
Small Population ◽  
Time Budgets ◽  
Adult Males ◽  
Adult Females ◽  
Young Horses

AbstractTime-budgets of adult and weaned sub-adult horses were studied in a small population of Camargue horses living in semi-liberty. The categories of activities used were: Standing resting, Lying flat, Lying up, Standing alert, Walking, Trotting, Galloping, Rolling and Foraging. The main differences in time-budgets were related to age and to sex : young horses spent more time lying (sleeping), males spent more time standing alert and in rapid movements (trot, gallop), while usually foraging less than did the adult females. During the three years of the study the population increased from 20 to 54 horses and there were considerable changes in social structure as the number of adult males increased. Associated with these developments there were some changes between years in the time-budgets: the most striking of which was a general trend for all horses to spend less time lying. Nonetheless the time-budgets showed a considerable constancy across years and age/sex-classes, especially with regard to time spent foraging. This conclusion may provide a clue as to why horses have an unusual social system based on long term relationships between a male and the females of his harem.

The Long-Term Effects of Living in a Shared and Continuous Traumatic Reality: The Case of Israeli Families on the Border With Gaza

2021 ◽  
pp. 152483802110634
Author(s):  
Orit Nuttman-Shwartz
Keyword(s):  
Political Violence ◽  
Traumatic Stress ◽  
Family Intervention ◽  
Small Population ◽  
Long Term Effects ◽  
Family Dynamic ◽  
Parents And Children ◽  
Trauma Transmission ◽  
Persistent Violence

This article presents a literature review of the concept of intergenerational transmission of traumatic stress among a specific population of Israeli parents and children living near the Israeli/Gaza border, an area that can essentially be viewed as a laboratory of shared, continuous, and stressful reality resulting from ongoing political violence. The Google Scholar database was used to search only for peer-reviewed articles written in English and published between 2002 and 2020, and the particular focus of the study was Israeli families living in the “Gaza envelope”: communities that have been on the receiving end of rockets and mortars from Gaza for the past 20 years. The review was based on 35 articles and sheds light on the existence of studies using a variety of perspectives (e.g., psychological, biopsychosocial, and behavioral). Findings demonstrate the effects of continuous stress situations on the family dynamic, even before birth, among this small population. In addition, they show that to understand the unique process of intergenerational trauma transmission in a shared continuous traumatic reality, it is important to adopt a comprehensive perspective so as to understand the reciprocal, long-lasting, and transgenerational effects of being exposed to traumatic stress. This perspective can be used as a basis for developing family intervention strategies that are appropriate for preventing stress outcomes that derive from living in the context of persistent violence.

scholarly journals Population genetics of the coral Acropora millepora: Towards a genomic predictor of bleaching

2019 ◽  
Author(s):  
Zachary L. Fuller ◽  
Veronique J.L. Mocellin ◽  
Luke Morris ◽  
Neal Cantin ◽  
Jihanne Shepherd ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Balancing Selection ◽  
Genome Wide Association ◽  
Conservation Strategies ◽  
Genome Sequences ◽  
Acropora Millepora ◽  
Genome Wide ◽  
A Genome ◽  
In The Wild

AbstractAlthough reef-building corals are rapidly declining worldwide, responses to bleaching vary both within and among species. Because these inter-individual differences are partly heritable, they should in principle be predictable from genomic data. Towards that goal, we generated a chromosome-scale genome assembly for the coral Acropora millepora. We then obtained whole genome sequences for 237 phenotyped samples collected at 12 reefs distributed along the Great Barrier Reef, among which we inferred very little population structure. Scanning the genome for evidence of local adaptation, we detected signatures of long-term balancing selection in the heat-shock co-chaperone sacsin. We further used 213 of the samples to conduct a genome-wide association study of visual bleaching score, incorporating the polygenic score derived from it into a predictive model for bleaching in the wild. These results set the stage for the use of genomics-based approaches in conservation strategies.

Conservation of the Swift Parrot Lathamus discolor ? management lessons for a threatened migratory species

2007 ◽  
Vol 13 (2) ◽  
pp. 111 ◽  
Author(s):  
Debbie Saunders ◽  
Raymond Brereton ◽  
Chris Tzaros ◽  
Mark Holdsworth ◽  
Rob Price
Keyword(s):  
Site Fidelity ◽  
Bird Species ◽  
Migratory Bird ◽  
Small Population ◽  
Assessment Process ◽  
Migratory Species ◽  
Conservation Assessment ◽  
Broad Distribution ◽  
Large Numbers

Conserving habitat for wide-ranging fauna species provides a challenge because impacts on these species tend to be dismissed based on the assumption that there is sufficient habitat in other areas of its range. This incremental loss of habitat is a serious conservation issue for a diversity of bird species. As knowledge of wide-ranging and migratory bird species increases, it often becomes evident that they select specific sites on a regular basis (i.e., the species exhibit site fidelity). Gaining a better understanding of site fidelity and selective habitat use for wide-ranging species is clearly important, but also extremely challenging. In this paper, challenges associated with conservation of the migratory and wide-ranging Swift Parrot Lathamus discolor are discussed as an example of how a recovery programme has aimed to address such conservation and management challenges. Despite the small population size (less than 2 500 birds), broad distribution (1 250 000 km2) and often cryptic nature, the implementation of the national recovery programme has been successful in the identification and protection of important habitats. This has been made possible by involving large numbers of volunteers who collect long-term sighting and habitat data over large areas, together with more detailed ecological research. This information is then used to inform the conservation assessment process and to improve habitat conservation throughout the range of the species.

scholarly journals Thermal evolution and quiescent emission of transiently accreting neutron stars

2019 ◽  
Vol 629 ◽  
pp. A88 ◽  
Author(s):  
A. Y. Potekhin ◽  
A. I. Chugunov ◽  
G. Chabrier
Keyword(s):  
Neutron Star ◽  
Neutron Stars ◽  
Nuclear Reactions ◽  
Thermal Evolution ◽  
Theoretical Models ◽  
Equilibrium Temperature ◽  
Theoretical Interpretation ◽  
Quasi Equilibrium ◽  
Accretion Rates

Aims. We study the long-term thermal evolution of neutron stars in soft X-ray transients (SXTs), taking the deep crustal heating into account consistently with the changes of the composition of the crust. We collect observational estimates of average accretion rates and thermal luminosities of such neutron stars and compare the theory with observations. Methods. We performed simulations of thermal evolution of accreting neutron stars, considering the gradual replacement of the original nonaccreted crust by the reprocessed accreted matter, the neutrino and photon energy losses, and the deep crustal heating due to nuclear reactions in the accreted crust. We also tested and compared results for different modern theoretical models. We updated a compilation of the observational estimates of the thermal luminosities in quiescence and average accretion rates in the SXTs and compared the observational estimates with the theoretical results. Results. The long-term thermal evolution of transiently accreting neutron stars is nonmonotonic. The quasi-equilibrium temperature in quiescence reaches a minimum and then increases toward the final steady state. The quasi-equilibrium thermal luminosity of a neutron star in an SXT can be substantially lower at the minimum than in the final state. This enlarges the range of possibilities for theoretical interpretation of observations of such neutron stars. The updates of the theory and observations leave the previous conclusions unchanged, namely that the direct Urca process operates in relatively cold neutron stars and that an accreted heat-blanketing envelope is likely present in relatively hot neutron stars in the SXTs in quiescence. The results of the comparison of theory with observations favor suppression of the triplet pairing type of nucleon superfluidity in the neutron-star matter.

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