scholarly journals Inbreeding Load, Average Dominance and the Mutation Rate for Mildly Deleterious Alleles in Mimulus guttatus

Genetics ◽  
1999 ◽  
Vol 153 (4) ◽  
pp. 1885-1898 ◽  
Author(s):  
John H Willis
Keyword(s):  
Inbreeding Depression ◽  
Deleterious Mutations ◽  
Mimulus Guttatus ◽  
Fitness Component ◽  
Fitness Effects ◽  
Fitness Traits ◽  
Deleterious Alleles ◽  
Degree Of Dominance ◽  
Almost All ◽  
Load Average

Abstract The goal of this study is to provide information on the genetics of inbreeding depression in a primarily outcrossing population of Mimulus guttatus. Previous studies of this population indicate that there is tremendous inbreeding depression for nearly every fitness component and that almost all of this inbreeding depression is due to mildly deleterious alleles rather than recessive lethals or steriles. In this article I assayed the homozygous and heterozygous fitnesses of 184 highly inbred lines extracted from a natural population. Natural selection during the five generations of selfing involved in line formation essentially eliminated major deleterious alleles but was ineffective in purging alleles with minor fitness effects and did not appreciably diminish overall levels of inbreeding depression. Estimates of the average degree of dominance of these mildly deleterious alleles, obtained from the regression of heterozygous fitness on the sum of parental homozygous fitness, indicate that the detrimental alleles are partially recessive for most fitness traits, with h~∼0.15 for cumulative measures of fitness. The inbreeding load, B, for total fitness is ~1.0 in this experiment. These results are consistent with the hypothesis that spontaneous mildly deleterious mutations occur at a rate >0.1 mutation per genome per generation.

scholarly journals Gene expression drives the evolution of dominance

2017 ◽  
Author(s):  
Christian D. Huber ◽  
Arun Durvasula ◽  
Angela M. Hancock ◽  
Kirk E. Lohmueller
Keyword(s):  
Complex Traits ◽  
Mating Systems ◽  
Multiple Mating ◽  
Expression Patterns ◽  
Natural Populations ◽  
Deleterious Mutations ◽  
Fitness Effects ◽  
Population Genomic ◽  
Degree Of Dominance ◽  
New Mutations

AbstractDominance is a fundamental concept in molecular genetics and has implications for understanding patterns of genetic variation, evolution, and complex traits. However, despite its importance, the degree of dominance has yet to be quantified in natural populations. Here, we leverage multiple mating systems in natural populations of Arabidopsis to co-estimate the distribution of fitness effects and dominance coefficients of new amino acid changing mutations. We find that more deleterious mutations are more likely to be recessive than less deleterious mutations. Further, this pattern holds across gene categories, but varies with the connectivity and expression patterns of genes. Our work argues that dominance arose as the inevitable consequence of the functional importance of genes and their optimal expression levels.One sentence summaryWe use population genomic data to characterize the degree of dominance for new mutations and develop a new theory for its evolution.

scholarly journals A simulation study on detecting purging of inbreeding depression in captive populations

2005 ◽  
Vol 86 (2) ◽  
pp. 139-148 ◽  
Author(s):  
ELIZABETH BOAKES ◽  
JINLIANG WANG
Keyword(s):  
Regression Model ◽  
Inbreeding Depression ◽  
Simulation Study ◽  
Statistical Power ◽  
Simulated Data ◽  
Significant Trend ◽  
Small Populations ◽  
Deleterious Mutations ◽  
Deleterious Alleles ◽  
Captive Populations

Inbreeding depression threatens the survival of small populations of both captive and wild outbreeding species. In order to fully understand this threat, it is necessary to investigate what role purging plays in reducing inbreeding depression. Ballou (1997) undertook such an investigation on 25 mammalian populations, using an ancestral inbreeding regression model to detect purging. He concluded that there was a small but highly significant trend of purging on neonatal survival across the populations. We tested the performance of the regression model that Ballou used to detect purging on independently simulated data. We found that the model has low statistical power when inbreeding depression is caused by the build-up of mildly deleterious alleles. It is therefore possible that Ballou's study may have underestimated the effects of ancestral inbreeding on the purging of inbreeding depression in captive populations if their inbreeding depression was caused mainly by mildly deleterious mutations. We also developed an alternative regression model to Ballou's, which showed an improvement in the detection of purging of mildly deleterious alleles but performed less well if deleterious alleles were of a large effect.

scholarly journals The effect of synergistic epistasis on the inbreeding load

1998 ◽  
Vol 71 (1) ◽  
pp. 85-89 ◽  
Author(s):  
BRIAN CHARLESWORTH
Keyword(s):  
Drosophila Melanogaster ◽  
Simple Model ◽  
Inbreeding Depression ◽  
Mutational Load ◽  
Deleterious Mutations ◽  
Fitness Effects ◽  
If Current ◽  
Selection Parameters ◽  
Mutation And Selection

The magnitude of inbreeding depression in Drosophila melanogaster appears too large to be accounted for by mutational load with multiplicative fitness interactions among loci, if current estimates of mutation and selection parameters are valid. One possible explanation for this discrepancy is synergistic epistasis among the fitness effects of deleterious mutations. A simple model of the effect of synergistic epistasis on the inbreeding load is developed. This model is used to show that deleterious mutations could account for the Drosophila data on the effects of inbreeding on components of fitness such as viability.

scholarly journals Synergistic epistasis between loci affecting fitness: evidence in plants and fungi

1998 ◽  
Vol 71 (1) ◽  
pp. 39-49 ◽  
Author(s):  
J. ARJAN G. M. de VISSER ◽  
ROLF F. HOEKSTRA
Keyword(s):  
Mycelial Growth ◽  
Error Variance ◽  
Fungal Species ◽  
Deleterious Mutations ◽  
Evolution Of Sex ◽  
Fitness Traits ◽  
Quantitative Characters ◽  
Deleterious Alleles ◽  
Negative Skewness ◽  
Sexual Cross

Information on the nature of epistasis between alleles affecting fitness is hardly available, but relevant for, among other issues, our understanding of the evolution of sex and recombination. Evidence of synergistic epistasis between deleterious mutations is support for the Mutational Deterministic hypothesis of the evolution of sex, while finding antagonistic epistasis between beneficial alleles would support the Environmental Deterministic hypotheses. Both types of epistasis are expected to cause negatively skewed fitness distributions of full-sib offspring from a sexual cross. Here, we have studied the form of the distribution of a variety of quantitative characters related to fitness by searching the literature. The fitness traits encountered include the mycelial growth rate in fungi, and earliness, resistance against pathogens, seed number, and pollen fitness in plants. Fitness-related traits in plants show almost exclusively negative skewness, while the results for fungal species are more ambiguous. Possible sources of negative skewness other than epistasis, such as recessiveness of deleterious alleles or a negatively skewed error variance, were tested and found to be unimportant. We argue that these results suggest the existence of synergistic epistasis between deleterious alleles or antagonistic epistasis between beneficial alleles in plants, which is general support for the currently popular hypotheses of sex and recombination, but does not distinguish between them.

scholarly journals The Genetic cost of Neanderthal introgression

2015 ◽  
Author(s):  
Kelley Harris ◽  
Rasmus Nielsen
Keyword(s):  
Genetic Material ◽  
Human Populations ◽  
Deleterious Mutations ◽  
Mutation Load ◽  
Epistatic Interactions ◽  
Fitness Effects ◽  
Deleterious Alleles ◽  
Anatomically Modern Humans ◽  
Neanderthal Admixture ◽  
Genomic Regions

AbstractApproximately 2-4% of genetic material in human populations outside Africa is derived from Neanderthals who interbred with anatomically modern humans. Recent studies have shown that this Neanderthal DNA is depleted around functional genomic regions; this has been suggested to be a consequence of harmful epistatic interactions between human and Neanderthal alleles. However, using published estimates of Neanderthal inbreeding and the distribution of mutational fitness effects, we infer that Neanderthals had at least 40% lower fitness than humans on average; this increased load predicts the reduction in Neanderthal introgression around genes without the need to invoke epistasis. We also predict a residual Neanderthal mutational load in non-Africans, leading to a fitness reduction of at least 0.5%. This effect of Neanderthal admixture has been left out of previous debate on mutation load differences between Africans and non-Africans. We also show that if many deleterious mutations are recessive, the Neanderthal admixture fraction could increase over time due to the protective effect of Neanderthal haplotypes against deleterious alleles that arose recently in the human population. This might partially explain why so many organisms retain gene flow from other species and appear to derive adaptive benefits from introgression.

scholarly journals Fitness Effects of Somatic Mutations Accumulating during Vegetative Growth

2018 ◽  
Author(s):  
Mitchell B. Cruzan ◽  
Matthew A. Streisfeld ◽  
Jaime A. Schwoch
Keyword(s):  
Sexual Reproduction ◽  
Somatic Mutation ◽  
Vegetative Growth ◽  
Somatic Mutations ◽  
Life Form ◽  
Deleterious Mutations ◽  
Mimulus Guttatus ◽  
Next Generation ◽  
Fitness Effects ◽  
Offspring Fitness

AbstractThe unique life form of plants promotes the accumulation of somatic mutations that can be passed to offspring in the next generation, because the same meristem cells responsible for vegetative growth also generate gametes for sexual reproduction. However, little is known about the consequences of somatic mutation accumulation for offspring fitness. We evaluate the fitness effects of somatic mutations in Mimulus guttatus by comparing progeny from self-pollinations made within the same flower (autogamy) to progeny from self-pollinations made between stems on the same plant (geitonogamy). The effects of somatic mutations are evident from this comparison, as autogamy leads to homozygosity of a proportion of somatic mutations, but progeny from geitonogamy remain heterozygous for mutations unique to each stem. In two different experiments, we find consistent fitness effects of somatic mutations from individual stems. Surprisingly, several progeny groups from autogamous crosses displayed increases in fitness compared to progeny from geitonogamy crosses, indicating that beneficial somatic mutations were prevalent in some stems. These results support the hypothesis that somatic mutations accumulate during vegetative growth, but they are filtered by different forms of selection that occur throughout development, resulting in the culling of expressed deleterious mutations and the retention of beneficial mutations.

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 The mutation load under tetrasomic inheritance and its consequences for the evolution of the selfing rate in autotetraploid species

1999 ◽  
Vol 74 (1) ◽  
pp. 31-42 ◽  
Author(s):  
J. RONFORT
Keyword(s):  
Inbreeding Depression ◽  
Deleterious Mutation ◽  
Stable State ◽  
Approximate Solutions ◽  
Balance Model ◽  
Deleterious Mutations ◽  
Selfing Rate ◽  
Mutation Load ◽  
Mean Fitness ◽  
The Mean

Single-locus equilibrium frequencies of a partially recessive deleterious mutation under the mutation–selection balance model are derived for partially selfing autotetraploid populations. Assuming multiplicative fitness interactions among loci, approximate solutions for the mean fitness and inbreeding depression values are also derived for the multiple locus case and compared with expectations for the diploid model. As in diploids, purging of deleterious mutations through consanguineous matings occurs in autotetraploid populations, i.e. the equilibrium mutation load is a decreasing function of the selfing rate. However, the variation of inbreeding depression with the selfing rate depends strongly on the dominance coefficients associated with the three heterozygous genotypes. Inbreeding depression can either increase or decrease with the selfing rate, and does not always vary monotonically. Expected issues for the evolution of the selfing rate consequently differ depending on the dominance coefficients. In some cases, expectations for the evolution of the selfing rate resemble expectations in diploids; but particular sets of dominance coefficients can be found that lead to either complete selfing or intermediate selfing rates as unique evolutionary stable state.

scholarly journals Selection, Load and Inbreeding Depression in a Large Metapopulation

Genetics ◽  
2002 ◽  
Vol 160 (3) ◽  
pp. 1191-1202 ◽  
Author(s):  
Michael C Whitlock
Keyword(s):  
Population Structure ◽  
Inbreeding Depression ◽  
Population Subdivision ◽  
Response To Selection ◽  
Mutation Load ◽  
Deleterious Alleles ◽  
Subdivided Population ◽  
Soft Selection ◽  
Mean Fitness ◽  
The Mean

Abstract The subdivision of a species into local populations causes its response to selection to change, even if selection is uniform across space. Population structure increases the frequency of homozygotes and therefore makes selection on homozygous effects more effective. However, population subdivision can increase the probability of competition among relatives, which may reduce the efficacy of selection. As a result, the response to selection can be either increased or decreased in a subdivided population relative to an undivided one, depending on the dominance coefficient FST and whether selection is hard or soft. Realistic levels of population structure tend to reduce the mean frequency of deleterious alleles. The mutation load tends to be decreased in a subdivided population for recessive alleles, as does the expected inbreeding depression. The magnitude of the effects of population subdivision tends to be greatest in species with hard selection rather than soft selection. Population structure can play an important role in determining the mean fitness of populations at equilibrium between mutation and selection.

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