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Deleterious Alleles (deleterious + allele)
Selected AbstractsMATING DENSITY AND THE STRENGTH OF SEXUAL SELECTION AGAINST DELETERIOUS ALLELES IN DROSOPHILA MELANOGASTEREVOLUTION, Issue 4 2008Nathaniel P. Sharp Deleterious alleles constantly enter populations via mutation. Their presence reduces mean fitness and may threaten population persistence. It has been suggested that sexual selection may be an efficient way by which deleterious alleles are removed from populations but there is little direct experimental evidence. Because of its potential role in mutational meltdowns, there is particular interest in whether the strength of sexual selection changes with density. For each of eight visible markers in Drosophila melanogaster we have compared the strength of sexual selection at two densities. We find evidence of strong sexual selection against most but not all of these alleles. There is no evidence that sexual selection tends to be stronger (or weaker) at high density relative to low density. In addition, we also measure the effects of these mutations on two key parameters relevant to population productivity,juvenile viability and female fecundity. In most cases, sexual selection is as strong or stronger than these other forms of selection. [source] Analysis of recessive lethality on swine chromosome 6 in a Göttingen miniature resource familyANIMAL GENETICS, Issue 5 2005S. Mikawa Summary Previously, we reported recessive gene(s) that terminate fetal development on swine chromosome (SSC) 6 between SW855 and SW122. The affected alleles originated from a Göttingen miniature pig used for construction of a Göttingen miniature pig × Meishan resource population. However, it is not known when the gene(s) are activated during fetal development, which is one of the important factors in selecting candidate genes responsible for fetal death. In the present study, a second swine population consisting of 159 progeny was produced by mating pigs carrying the deleterious allele(s). This population allowed us to narrow the genetic region harbouring the affected gene(s) and to demonstrate that the region was confined between RYR1 and SW782 (5.7 cM on the National Institute of Animal Industry (NIAI) map and 100 cR on the INRA/University of Minnesota porcine radiation hybrid panel map). In order to determine when the affected gene(s) are activated and in turn terminate fetal development, embryos produced in the second population were collected at several development stages and genotyped for markers in the region. Genes in the homozygous state affected embryo development between 9 and 11 days post-coitus. [source] Stress Resistance and Environmental Dependency of Inbreeding Depression in Drosophila melanogasterCONSERVATION BIOLOGY, Issue 4 2000Jesper Dahlgaard Two important issues are whether stress and inbreeding effects are independent as opposed to synergistic, and whether inbreeding effects are general across stresses as opposed to stress-specific. We found that inbreeding reduced resistance to acetone and desiccation in adult Drosophila melanogaster, whereas resistance to knockdown heat stress was not affected. Inbred flies, however, experienced a greater proportional decrease in productivity than outbreds following heat stress. Correlations using line means indicated that all resistance traits were uncorrelated in the inbred as well as in the outbred flies. Recessive, deleterious alleles therefore did not appear to have any general deleterious effects on stress resistance. Inbreeding within a specific environment and selection for resistant genotypes may therefore purge a population of deleterious genes specific to only one environmental stress. Resumen: Tanto la endogamia como el estrés ambiental pueden tener efectos adversos sobre la adaptabilidad afectando la conservación de especies en peligro de extinción. Dos temas importantes son determinar si los efectos del estrés y la endogamia son independientes en lugar de ser sinérgicos, y determinar si los efectos de la endogamia son generales para distintos tipos de estrés o si son específicos para un tipo determinado de estrés. Encontramos que la endogamia reduce la resistencia a la acetona y la desecación en adultos de Drosophila melanogaster, mientras que la resistencia al efecto demoledor del estrés por calor no fue afectada. Sin embargo, las moscas endogámicas experimentaron una disminución proporcionalmente mayor en la productividad que aquellas moscas sin endogamia después de experimentar un estrés por calor. Las correlaciones obtenidas usando líneas medias indicaron que las características de resistencia no estuvieron correlacionadas ni en moscas con endogamia, ni en moscas sin ella. Aparentemente los alelos nocivos recesivos no tuvieron ningún efecto nocivo general en la resistencia al estrés. La endogamia dentro de un ambiente específico y la selección por genotipos resistentes podrían, por lo tanto, eliminar una población de genes nocivos específicos a un solo estrés ambiental. [source] MATING DENSITY AND THE STRENGTH OF SEXUAL SELECTION AGAINST DELETERIOUS ALLELES IN DROSOPHILA MELANOGASTEREVOLUTION, Issue 4 2008Nathaniel P. Sharp Deleterious alleles constantly enter populations via mutation. Their presence reduces mean fitness and may threaten population persistence. It has been suggested that sexual selection may be an efficient way by which deleterious alleles are removed from populations but there is little direct experimental evidence. Because of its potential role in mutational meltdowns, there is particular interest in whether the strength of sexual selection changes with density. For each of eight visible markers in Drosophila melanogaster we have compared the strength of sexual selection at two densities. We find evidence of strong sexual selection against most but not all of these alleles. There is no evidence that sexual selection tends to be stronger (or weaker) at high density relative to low density. In addition, we also measure the effects of these mutations on two key parameters relevant to population productivity,juvenile viability and female fecundity. In most cases, sexual selection is as strong or stronger than these other forms of selection. [source] ASSORTATIVE MATING FOR FITNESS AND THE EVOLUTION OF RECOMBINATIONEVOLUTION, Issue 7 2006Alistair Blachford Abstract To understand selection on recombination, we need to consider how linkage disequilibria develop and how recombination alters these disequilibria. Any factors that development of disequilbria, including nonrandom mating, can potentially change selectio on recombination. Assortative mating is known to affect linkage disequilbria but its effect on the evolution of recombination have not been previously studied. Given that assortative arise indirectly via a number of biologically realistic scenarios, it is plausible that weak assortative mating occurs across a diverse set of taxa. Using a modifier model, we examine how assortative mating for fitness affects the evolution of recombination under two evolutionary scenarios: selective sweeps and mutation-selection balance. We find there is no net effect of assortative mating during a selective sweep. In contrast, assortative mating could have a large effect on recombination when deleterious alleles are maintained at mutation-selection balance but only if assortative mating is sufficiently strong. Upon considering reasonable values for the number of loci affecting fitness components, the strength of selection, and the mutation rate, we conclude that the correlation in fitness between mates is unlikely to be sufficiently high for assortative mating to affect the evolution of recombination in most species. [source] HOW ARE DELETERIOUS MUTATIONS PURGED?EVOLUTION, Issue 12 2003DRIFT VERSUS NONRANDOM MATING Abstract Accumulation of deleterious mutations has important consequences for the evolution of mating systems and the persistence of small populations. It is well established that consanguineous mating can purge a part of the mutation load and that lethal mutations can also be purged in small populations. However, the efficiency of purging in natural populations, due to either consanguineous mating or to reduced population size, has been questioned. Consequences of consanguineous mating systems and small population size are often equated under "inbreeding" because both increase homozygosity, and selection is though to be more efficient against homozygous deleterious alleles. I show that two processes of purging that I call "purging by drift" and "purging by nonrandom mating" have to be distinguished. Conditions under which the two ways of purging are effective are derived. Nonrandom mating can purge deleterious mutations regardless of their dominance level, whereas only highly recessive mutations can be purged by drift. Both types of purging are limited by population size, and sharp thresholds separate domains where purging is either effective or not. The limitations derived here on the efficiency of purging are compatible with some experimental studies. Implications of these results for conservation and evolution of mating systems are discussed. [source] PERSPECTIVE: PURGING THE GENETIC LOAD: A REVIEW OF THE EXPERIMENTAL EVIDENCEEVOLUTION, Issue 12 2002Peter Crnokrak Abstract., Inbreeding depression, the reduction in fitness that accompanies inbreeding, is one of the most important topics of research in evolutionary and conservation genetics. In the recent literature, much attention has been paid to the possibility of purging the genetic load. If inbreeding depression is due to deleterious alleles, whose effect on fitness are negative when in a homozygous state, then successive generations of inbreeding may result in a rebound in fitness due to the selective decrease in frequency of deleterious alleles. Here we examine the experimental evidence for purging of the genetic load by collating empirical tests of rebounds in fitness-related traits with inbreeding in animals and plants. We gathered data from 28 studies including five mammal, three insect, one mollusc, and 13 plant species. We tested for purging by examining three measures of fitness-component variation with serial generations of inbreeding: (1) changes in inbreeding depression, (2) changes in fitness components of inbred lines relative to the original outbred line, and (3) purged population (outcrossed inbred lines) trait means as a function of ancestral outbred trait means. Frequent and substantial purging was found using all three measures, but was particularly pronounced when tracking changes in inbreeding depression. Despite this, we found little correspondence between the three measures of purging within individual studies, indicating that the manner in which a researcher chooses to estimate purging will affect interpretation of the results obtained. The discrepancy suggests an alternative hypothesis: rebounds in fitness with inbreeding may have resulted from adaptation to laboratory conditions and not to purging when using outcrossed inbred lines. However, the pronounced reduction in inbreeding depression for a number of studies provides evidence for purging, as the measure is likely less affected by selection for laboratory conditions. Unlike other taxon-specific reviews on this topic, our results provide support for the purging hypothesis, but firm predictions about the situations in which purging is likely or the magnitude of fitness rebound possible when populations are inbred remain difficult. Further research is required to resolve the discrepancy between the results obtained using different experimental approaches. [source] DELETERIOUS MUTATION AND THE EVOLUTION OF EUSOCIALITYEVOLUTION, Issue 12 2002Joshua L. Cherry Abstract., Certain arguments concerning the evolution of eusociality form a classic example of the application of the principles of kin selection. These arguments center on the different degrees of relatedness of potential beneficiaries of an individual's efforts, for example a female's higher relatedness to her sisters than to her daughters in a haplodiploid system. This type of reasoning is insufficient to account for the evolution and maintainence of sexual reproduction, because parthenogenic females produce offspring that are more closely related to them than are offspring produced sexually. Among the forces invoked to explain sexual reproduction is deleterious mutation. This factor can be shown to favor eusociality as well, because siblings produced by helping carry fewer deleterious alleles on average than would offspring. The strength of this effect depends on the genomewide deleterious mutation rate, U, and on the selection coefficient, s, associated with deleterious alleles. For small s, the effect depends approximately on the product Us. This phenomenon illustrates that an assumption implicit in some analyses,that the relatedness of an individual to an actor is all that matters to its value to that actor,can fail for the evolution of eusociality as it does for the evolution of sex. [source] THE FITNESS EFFECTS OF SPONTANEOUS MUTATIONS IN CAENORHABDITIS ELEGANSEVOLUTION, Issue 4 2000Larissa L. Vassilieva Abstract. Spontaneous mutation to mildly deleterious alleles has emerged as a potentially unifying component of a variety of observations in evolutionary genetics and molecular evolution. However, the biological significance of hypotheses based on mildly deleterious mutation depends critically on the rate at which new mutations arise and on their average effects. A long-term mutation-accumulation experiment with replicate lines of the nematode Caenorhabditis elegans maintained by single-progeny descent indicates that recurrent spontaneous mutation causes approximately 0.1% decline in fitness per generation, which is about an order of magnitude less than that suggested by previous studies with Drosophila. Two rather different approaches, Bateman-Mukai and maximum likelihood, suggest that this observation, along with the observed rate of increase in the variance of fitness among lines, is consistent with a genomic deleterious mutation rate for fitness of approximately 0.03 per generation and with an average homozygous effect of approximately 12%. The distribution of mutational effects for fitness appears to have a relatively low coefficient of variation, being no more extreme than expected for a negative exponential, and for one composite fitness measure (total progeny production) approaches constancy of effects. These results are derived from assays in a benign environment. At stressful temperatures, estimates of the genomic deleterious mutation rate (for genes expressed at such temperatures) is sixfold lower, whereas those for the average homozygous effect is approximately eightfold higher. Our results are reasonably compatible with existing estimates for flies, when one considers the differences between these species in the number of germ-line cell divisions per generation and the magnitude of transposable element activity. [source] MAINTENANCE OF ANDRODIOECY IN THE FRESHWATER SHRIMP, EULIMNADIA TEXANA: ESTIMATES OF INBREEDING DEPRESSION IN TWO POPULATIONSEVOLUTION, Issue 3 2000Stephen C. Weeks Abstract., Androdioecy is an uncommon form of reproduction in which males coexist with hermaphrodites. Androdioecy is thought to be difficult to evolve in species that regularly inbreed. The freshwater shrimp Eulimnadia texana has recently been described as both androdioecious and highly selfing and is thus anomalous. Inbreeding depression is one factor that may maintain males in these populations. Here we examine the extent of "late" inbreeding depression (after sexual maturity) in these clam shrimp using two tests: (1) comparing the fitness of shrimp varying in their levels of individual heterozygosity from two natural populations that differ in overall genetic diversity; and (2) specifically outcrossing and selfing shrimp from these same populations and comparing fitness of the resulting offspring. The effects of inbreeding differed within each population. In the more genetically diverse population, fecundity, size, and mortality were significantly reduced in inbred shrimp. In the less genetically diverse population, none of the fitness measures was significantly lowered in selfed shrimp. Combining estimates of early inbreeding depression from a previous study with current estimates of late inbreeding depression suggests that inbreeding depression is substantial (,= 0.68) in the more diverse population and somewhat lower (,= 0.50) in the less diverse population. However, given that males have higher mortality rates than hermaphrodites, neither estimate of inbreeding depression is large enough to account for the maintenance of males in either population by inbreeding depression alone. Thus, the stability of androdioecy in this system is likely only if hermaphrodites are unable to self-fertilize many of their own eggs when not mated to a male or if male mating success is generally high (or at least high when males are rare). Patterns of fitness responses in the two populations were consistent with the hypothesis that inbreeding depression is caused by partially recessive deleterious alleles, although a formal test of this hypothesis still needs to be conducted. [source] Fitness differences associated with Pgi SNP genotypes in the Glanville fritillary butterfly (Melitaea cinxia)JOURNAL OF EVOLUTIONARY BIOLOGY, Issue 2 2009L. ORSINI Abstract Allozyme variation at the phosphoglucose isomerase (PGI) locus in the Glanville fritillary butterfly (Melitaea cinxia) is associated with variation in flight metabolic rate, dispersal rate, fecundity and local population growth rate. To map allozyme to DNA variation and to survey putative functional variation in genomic DNA, we cloned the coding sequence of Pgi and identified nonsynonymous variable sites that determine the most common allozyme alleles. We show that these single-nucleotide polymorphisms (SNPs) exhibit significant excess of heterozygotes in field-collected population samples as well as in laboratory crosses. This is in contrast to previous results for the same species in which other allozymes and SNPs were in Hardy,Weinberg equilibrium or exhibited an excess of homozygotes. Our results suggest that viability selection favours Pgi heterozygotes. Although this is consistent with direct overdominance at Pgi, we cannot exclude the possibility that heterozygote advantage is caused by the presence of one or more deleterious alleles at linked loci. [source] Common sex-linked deleterious alleles in a plant parasitic fungus alter infection success but show no pleiotropic advantageJOURNAL OF EVOLUTIONARY BIOLOGY, Issue 3 2006T. GIRAUD Abstract Microbotryum violaceum is a fungus that causes the sterilizing anther smut disease in Caryophyllaceae. Its diploid teliospores normally produce equal proportions of haploid sporidia of its two mating types. However natural populations contain high frequencies of individuals producing sporidia of only one mating type (,biased strains'). This mating type-ratio bias is caused by deleterious alleles at haploid phase (,haplo-lethals') linked to the mating type locus that can be transmitted only by intra-tetrad selfing. We used experimental inoculations to test some of the hypotheses proposed to explain the maintenance of haplo-lethals. We found a disadvantage of biased strains in infection ability and high intra-tetrad mating rates. Biased strains had no higher competitive ability nor shorter latency and their higher spore production per flower appeared insufficient to compensate their disadvantages. These findings were only consistent with the hypothesis that haplo-lethals are maintained under a metapopulation structure because of high intra-tetrad selfing rates, founder effects and selection at the population level. [source] Tracking the decline of the once-common butterfly: delayed oviposition, demography and population genetics in the hermit Chazara briseisANIMAL CONSERVATION, Issue 2 2010T. Kadlec Abstract Large populations, seemingly not at risk of extinction, can decline rapidly due to alteration of habitat. This appears to be the case of the butterfly Chazara briseis, which is declining in all of Central and Eastern Europe, even from apparently large areas of its steppe grassland habitats. We combined mark,recapture, allozyme electrophoresis and adult behaviour observation to study the last remaining metapopulation of this once-widespread butterfly in the Czech Republic. The total population estimate was 1300 males and 1050 females in 10 colonies within a 70 km2 landscape. Adults were long-lived, and inseminated females required several weeks before they started ovipositing. Models using realistic lengths of the preoviposition period estimated that due to background mortality, only 25,55% of the female census population lived long enough to contribute to the next generation. This demographic load was unlikely to be balanced by an increased fecundity. Allozyme electrophoresis of 22 loci revealed much higher allelic variation than in most other studies of butterflies living in small populations (mean heterozygosity: 20.7%). If expressed as per individual colony, the genetic variation did not correlate with population density, survival or longevity. This was probably due to frequent movements among colonies; during 8 weeks of adult flight, 5.1% of recaptured males and 3.6% of recaptured females moved between colonies. The high preoviposition mortality indicates that populations of this species must contain more individuals compared with populations not suffering this additional demographic load. The high allelic diversity of each single colony suggests that the population as a whole has not undergone genetic bottlenecks, but now may be facing risks of inbreeding depression due to allele frequency shifts and the possible increase of weakly deleterious alleles. In the past, high effective population sizes were maintained by frequent dispersal in dense networks of steppic grasslands. Generous habitat restoration is necessary to safeguard populations of this specialized, yet formerly common species. [source] Relationship of inbreeding with sperm quality and reproductive success in Mexican gray wolvesANIMAL CONSERVATION, Issue 3 2007C. Asa Abstract The ultimate goal of the Mexican gray wolf Canis lupus baileyi captive management program is reintroduction of healthy individuals into wild habitats. To this end, zoo population managers work to provide not only for the physical well-being but also for the genetic health of these animals. However, the very limited genetic founder base, exacerbated by breeding within three distinct lineages, resulted in very high coefficients of inbreeding. Because support for measurable levels of inbreeding depression in the captive wolf population, as defined by reductions in common fitness measures such as juvenile survival or reproductive success, has been weak, we investigated the potential effects on male reproductive capacity. We analyzed semen samples from wolves from all three lineages and compared them with samples from subsequent lineage crosses and from generic gray wolves. We not only found a significant effect of inbreeding on sperm quality but we related both inbreeding and sperm quality to reproductive success. Samples from male offspring of lineage crosses, with inbreeding coefficients of zero were similar in quality to those from generic gray wolves. However, samples from a limited number of offspring from back-crosses were of extremely poor quality. Although it is reassuring that sperm quality was so much improved in male offspring of lineage crosses, the concomitant reduction in inbreeding coefficient does not eliminate the potentially deleterious alleles. Our results demonstrate that sperm quality is an important indicator of fertility and reproductive success in Mexican wolves. In addition, our data lend further support to the presence of inbreeding depression in this taxon. [source] Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literatureCLINICAL GENETICS, Issue 4 2009C Nemos The CDKL5 gene has been implicated in the molecular etiology of early-onset intractable seizures with infantile spasms (IS), severe hypotonia and atypical Rett syndrome (RTT) features. So far, 48 deleterious alleles have been reported in the literature. We screened the CDKL5 gene in a cohort of 177 patients with early-onset seizures, including 30 men and 10 girls with Aicardi syndrome. The screening was negative for all men as well as for women with Aicardi syndrome, excluding the CDKL5 gene as a candidate for this neurodevelopmental disorder. We report 11 additional de novo mutations in CDKL5 in female patients. For the first time, the MLPA approach allowed the identification of a partial deletion encompassing the promoter and the first two exons of CDKL5. The 10-point mutations consist of five missenses (with recurrent amino acid changes at p.Ala40 and p.Arg178), four splicing variants and a 1-base pair duplication. We present a review of all mutated alleles published in the literature. In our study, the overall frequency of mutations in CDKL5 in women with early-onset seizures is around 8.6%, a result comparable with previous reports. Noteworthy, the CDKL5 mutation rate is high (28%) in women with early-onset seizures and IS. 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