scholarly journals The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives

2016 ◽  
Author(s):  
Yuval Simons ◽  
Guy Sella
Keyword(s):  
Deleterious Mutation ◽  
Population History ◽  
Mutation Load ◽  
The Impact

scholarly journals The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives

2016 ◽  
Author(s):  
Yuval B. Simons ◽  
Guy Sella
Keyword(s):  
Demographic History ◽  
Population History ◽  
Human Populations ◽  
Data Sets ◽  
Loss Of Function ◽  
Mutation Load ◽  
Synonymous Mutations ◽  
Show Evidence ◽  
Out Of Africa ◽  
The Impact

AbstractOver the past decade, there has been both great interest and confusion about whether recent demographic events—notably the Out-of-Africa-bottleneck and recent population growth—have led to differences in mutation load among human populations. The confusion can be traced to the use of different summary statistics to measure load, which lead to apparently conflicting results. We argue, however, that when statistics more directly related to load are used, the results of different studies and data sets consistently reveal little or no difference in the load of non-synonymous mutations among human populations. Theory helps to understand why no such differences are seen, as well as to predict in what settings they are to be expected. In particular, as predicted by modeling, there is evidence for changes in the load of recessive loss of function mutations in founder and inbred human populations. Also as predicted, eastern subspecies of gorilla, Neanderthals and Denisovans, who are thought to have undergone reductions in population sizes that exceed the human Out-of-Africa bottleneck in duration and severity, show evidence for increased load of non-synonymous mutations (relative to western subspecies of gorillas and modern humans, respectively). A coherent picture is thus starting to emerge about the effects of demographic history on the mutation load in populations of humans and close evolutionary relatives.

scholarly journals The deleterious mutation load is insensitive to recent population history

2014 ◽  
Vol 46 (3) ◽  
pp. 220-224 ◽  
Author(s):  
Yuval B Simons ◽  
Michael C Turchin ◽  
Jonathan K Pritchard ◽  
Guy Sella
Keyword(s):  
Deleterious Mutation ◽  
Population History ◽  
Mutation Load

scholarly journals Harmful mutation load in the mitochondrial genomes of cattle breeds

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Sankar Subramanian
Keyword(s):  
Population Size ◽  
Artificial Selection ◽  
Deleterious Mutation ◽  
Genetic Diseases ◽  
Mitochondrial Genomes ◽  
Deleterious Mutations ◽  
Founder Population ◽  
Mutation Load ◽  
Effective Population ◽  
Cattle Breeds

Abstract Objective Domestication of wild animals results in a reduction in the effective population size, and this could affect the deleterious mutation load of domesticated breeds. Furthermore, artificial selection will also contribute to the accumulation of deleterious mutations due to the increased rate of inbreeding among these animals. The process of domestication, founder population size, and artificial selection differ between cattle breeds, which could lead to a variation in their deleterious mutation loads. We investigated this using mitochondrial genome data from 364 animals belonging to 18 cattle breeds of the world. Results Our analysis revealed more than a fivefold difference in the deleterious mutation load among cattle breeds. We also observed a negative correlation between the breed age and the proportion of deleterious amino acid-changing polymorphisms. This suggests a proportionally higher deleterious SNPs in young breeds compared to older breeds. Our results highlight the magnitude of difference in the deleterious mutations present in the mitochondrial genomes of various breeds. The results of this study could be useful in predicting the rate of incidence of genetic diseases in different breeds.

scholarly journals Nature of Deleterious Mutation Load in Drosophila

Genetics ◽  
1996 ◽  
Vol 144 (4) ◽  
pp. 1993-1999 ◽  
Author(s):  
Peter D Keightley
Keyword(s):  
Deleterious Mutation ◽  
Spontaneous Mutation ◽  
Mutation Accumulation ◽  
Mutation Rates ◽  
Mutation Load ◽  
Spontaneous Mutation Rate ◽  
A Minor ◽  
Chromosome I ◽  
Balancer Chromosomes ◽  
Balancer Chromosome

Much population genetics and evolution theory depends on knowledge of genomic mutation rates and distributions of mutation effects for fitness, but most information comes from a few mutation accumulation experiments in Drosophila in which replicated chromosomes are sheltered from natural selection by a balancer chromosome. I show here that data from these experiments imply the existence of a large class of minor viability mutations with approximately equivalent effects. However, analysis of the distribution of viabilities of chromosomes exposed to EMS mutagenesis reveals a qualitatively different distribution of effects lacking such a minor effects class. A possible explanation for this difference is that transposable element insertions, a common class of spontaneous mutation event in Drosophila, frequently generate minor viability effects. This explanation would imply that current estimates of deleterious mutation rates are not generally applicable in evolutionary models, as transposition rates vary widely. Alternatively, much of the apparent decline in viability under spontaneous mutation accumulation could have been nonmutational, perhaps due to selective improvement of balancer chromosomes. This explanation accords well with the data and implies a spontaneous mutation rate for viability two orders of magnitude lower than previously assumed, with most mutation load attributable to major effects.

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 The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts

PLoS Genetics ◽  
2016 ◽  
Vol 12 (10) ◽  
pp. e1006385 ◽  
Author(s):  
Natalie Saini ◽  
Steven A. Roberts ◽  
Leszek J. Klimczak ◽  
Kin Chan ◽  
Sara A. Grimm ◽  
...  
Keyword(s):  
Human Skin ◽  
Somatic Mutation ◽  
Skin Fibroblasts ◽  
Human Skin Fibroblasts ◽  
Mutation Load ◽  
The Impact

scholarly journals Demographic history shaped geographical patterns of deleterious mutation load in a broadly distributed Pacific Salmon

PLoS Genetics ◽  
2020 ◽  
Vol 16 (8) ◽  
pp. e1008348 ◽  
Author(s):  
Quentin Rougemont ◽  
Jean-Sébastien Moore ◽  
Thibault Leroy ◽  
Eric Normandeau ◽  
Eric B. Rondeau ◽  
...  
Keyword(s):  
Deleterious Mutation ◽  
Pacific Salmon ◽  
Demographic History ◽  
Mutation Load ◽  
Geographical Patterns

Towards a better understanding of past fertility regimes: the ideas and practice of controlling family size in Chinese history

2006 ◽  
Vol 21 (1) ◽  
pp. 9-35 ◽  
Author(s):  
ZHONGWEI ZHAO
Keyword(s):  
Family Size ◽  
Reproductive Behaviour ◽  
Population History ◽  
High Fertility ◽  
Chinese History ◽  
Traditional Beliefs ◽  
The Past ◽  
Demand For Children ◽  
The Impact ◽  
Made In

Thanks to the progress that has been made in the study of population history, it has been gradually accepted that fertility in historical China was only moderate in comparison with the recorded high fertility. However, scholars still disagree on whether the Chinese could have intentionally controlled their family size. This article first summarizes recent findings about fertility patterns in historical China. Then the author provides further evidence of people limiting their family size in the past, before discussing the impact of traditional beliefs on people's fertility behaviour and summarizing the antinatalist ideas and suggestions put forwarded by Chinese officials and intellectuals over China's long history. This evidence is then used to comment on a number of suggestions that have been made about China's traditional reproductive behaviour and culture. The article challenges the views that people's reproductive strategies aimed in the past to maximize the number of surviving offspring and that the demand for children (or sons) was always high in historical China.

Small-scale spatial genetic structure in the Central African rainforest tree speciesAucoumea klaineana: a stepwise approach to infer the impact of limited gene dispersal, population history and habitat fragmentation

2008 ◽  
Vol 17 (8) ◽  
pp. 2041-2050 ◽  
Author(s):  
CÉLINE BORN ◽  
OLIVIER J. HARDY ◽  
MARIE-HÉLÈNE CHEVALLIER ◽  
SIMON OSSARI ◽  
CHRISTIANE ATTÉKÉ ◽  
...  
Keyword(s):  
Genetic Structure ◽  
Habitat Fragmentation ◽  
Spatial Genetic Structure ◽  
Population History ◽  
Small Scale ◽  
Gene Dispersal ◽  
Stepwise Approach ◽  
The Impact
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