Random Penetrance of Mutations Among Individuals:A New Type of Genetic Drift in Molecular Evolution

The determinative view of mutation penetrance is a fundamental assumption for the building of molecular evolutionary theory:individuals in the population with the same genotype have the same fitness effect.Since this view has been constantly challenged by experimental evidence,it is desirable to examine to what extent violation of this view could affect our under-standing of molecular evolution.To this end,the author formulated a new theory of molecular evolution under a random model of penetrance:for any individual with the same mutational genotype,the coefficient of selection is a random variable.It follows that,in addition to the conventional Ne-genetic drift(Ne is the effective population size),the variance of penetrance among individuals(ε^(2))represents a new type of genetic drift,coined by theε^(2)-genetic drift.It has been demonstrated that these two genetic drifts together provided new insights on the nearly neutral evolution:the evolutionary rate is inversely related to the log-of-Ne when theε^(2)-genetic drift is nontrivial.This log-of-Ne feature ofε^(2)-genetic drift did explain well why the dN/dS ratio(the nonsynonymous rate to the synonymous rate)in humans is only as twofold as that in mice,while the effective population size(Ne)of mice is about two-magnitude larger than that of humans.It was estimated that,for the first time,the variance of random penetrance in mammalian genes was approximatelyε^(2)≈5.89×10^(-3).

Genetic Bottlenecks of the Wild Chinese Giant Salamander in Karst Caves

The rarity of limestone cave species due to habitat degradation makes them of special interest in conservation biology.The wild Chinese Giant Salamander Andrias davidianus,an evolutionarily distinct and globally endangered species,are nearly all obligate into living in inaccessible mountain caves now.We detected that only 14-29 breeders,with the effective population size of 9-25（5-44 of 95% confidence interval）,were in each of three caves,through genotyping 20 microsatellite loci on larvae that were flushed out of caves.Both heterzygosity excess and M（ratios of allele number to allele size range） tests indicated severe genetic bottlenecks among populations.Both mitochondrial,with only one or two haplotypes of D-loop region（770-771bp） in each population,and nuclear genetic structure showed clear divergence between populations.Considering the long life history,small population size,and genetic differentiationof the Chinese Giant Salamander,putting an end to poaching and recovering the karst ecosystem instead of releasing may be the sole measures to save this severely threated species.

A Discussion on Possible Indicators Related to Genetic Structure Changes in Plant Germplasm Conservation

The purpose of the present paper is to study and develop indicators and procedures for the evaluation of genetic structure changes in germplasm conservation due to social and natural environment reasons. Some basic concepts in germplasm study were introduced at first. Then, six kinds of indicators for genetic diversity as a measure of genetic potential of a germplasm collection were presented, i.e., numbers of different entities at certain level, evenness of the entity distribution, genetic similarity and genetic distance, genetic variance and genetic coefficient of variation, multivariate genetic variation indices, and coefficient of parentage. It was pointed out that genetic dispersion did not provide a complete concept of genetic diversity if without any information from genetic richness. Based on the above, the indicators for genetic erosion as the genetic structure changes of germplasm conservation due to social reasons, the indicators of genetic vulnerability as the genetic structure changes of germplasm conservation due to environmental stresses, the measurement of genetic drift and genetic shift as the genetic structure changes of germplasm collection during reproduction or seed increase were reviewed and developed. Furthermore, the estimation procedures of the indicators by using molecular markers were suggested. Finally, the case studies on suitable conservation sample size of self-pollinated and open-pollinated populations were given for reference.

Population Size, Genetic Diversity and Molecular Evidence of a Recent Population Bottleneck in Hynobius chinensis, an Endangered Salamander Species

Severe population declines can reduce species to small populations, offering permissive conditions for deleterious processes. For example, following such events, species can become prone to inbreeding and genetic drift which can lead to a loss of genetic diversity and evolutionary potentials. Hynobius chinensis is a poorly studied very rare and declining endangered amphibian species endemic to China in Changyang County. We investigated adult census population size by monitoring breeding populations from 2015 to 2018, developed microsatellite markers from the transcriptome and used them to investigate genetic diversity, and a population bottleneck in this species. We found H. chinensis in 4 different localities in a total area of 2.18 km^2 and estimated the overall adult census population size at 386–404 individuals. The adult census size（mean ± SE） per breeding pond ranged from 44 ± 6 to 141 ± 8 individuals and appeared smaller than that reported in closely related species in undisturbed habitats. We developed and characterized 13 microsatellite markers in total. Analysis of data at 7 loci（N = 118） in Hardy-Weinberg equilibrium gathered from the largest population showed that genetic diversity level was low. The average number of alleles per locus was 2.14. The observed and expected heterozygosities averaged 0.38 and 0.40, respectively. The inbreeding coefficient was –0.06. All tests performed to investigate a population bottleneck, i.e. The Garza-Williamson test, Heterozygosity excess test, Mode shift test of allele frequency, and effective population size estimates detected a population bottleneck. The contemporary and the historical effective population sizes were estimated at 36 and 234 individuals, respectively. We argue that as bottleneck effects, the studied population may have become prone to genetic drift and inbreeding, losing microsatellite alleles and heterozygosity. Our results suggest that populations of H. chinensismay have been extirpated in the study area.

Demographic Processes Linked to Genetic Diversity and Positive Selection across a Species’ Range

Demography determines the strength of genetic drift,which generally reduces genetic variation and the efficacy of selection.Here,we disentangled the importance of demographic processes at a local scale(census size and mating system)and at a species-range scale(old split between population clusters,recolonization after the last glaciation cycle,and admixture)in determining within-population genomic diversity and genomic signatures of positive selection.Analyses were based on re-sequence data from 52 populations of North American Arabidopsis lyrata collected across its entire distribution.The mating system and range dynamics since the last glaciation cycle explained around 60%of the variation in genomic diversity among populations and 52%of the variation in the signature of positive selection.Diversity was lowest in selfing compared with outcrossing populations and in areas further away from glacial refugia.In parallel,reduced positive selectionwas found in selfing populations and in populations with a longer route of postglacial range expansion.The signature of positive selection was also reduced in populations without admixture.We conclude that recent range expansion can have a profound influence on diversity in coding and non-coding DNA,similar in magnitude to the shift toward selfing.Distribution limits may in fact be caused by reduced effective population size and compromised positive selection in recently colonized parts of the range.

Relatively rapid evolution rates of SARS-CoV-2 spike gene at the primary stage of massive vaccination

A series of stringent non-pharmacological and pharmacological interventions were implemented to contain the pandemic but the pandemic continues.Moreover,vaccination breakthrough infection and reinfection in convalescent coronavirus disease 2019(COVID-19)cases have been reported.Further,severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)variants emerged with mutations in spike(S)gene,the target of most current vaccines.Importantly,the mutations exhibit a trend of immune escape from the vaccination.Herein the scientific question that if the vaccination drives genetic or antigenic drifts of SARS-CoV-2 remains elusive.We performed correlation analyses to uncover the impacts of wide vaccination on epidemiological characteristics of COVID-19.In addition,we investigated the evolutionary dynamics and genetic diversity of SARS-CoV-2 under immune pressure by utilizing the Bayesian phylodynamic inferences and the lineage entropy calculation respectively.We found that vaccination coverage was negatively related to the infections,severe cases,and deaths of COVID-19 respectively.With the increasing vaccination coverage,the lineage diversity of SARS-CoV-2 dampened,but the rapid mutation rates of the S gene were identified,and the vaccination could be one of the explanations for driving mutations in S gene.Moreover,new epidemics resurged in several countries with high vaccination coverage,questioning their current pandemic control strategies.Hence,integrated vaccination and non-pharmacological interventions are critical to control the pandemic.Furthermore,novel vaccine preparation should enhance its capabilities to curb both disease severity and infection possibility.