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JournalISSN: 0016-6723

Genetics Research 

Cambridge University Press
About: Genetics Research is an academic journal published by Cambridge University Press. The journal publishes majorly in the area(s): Population & Locus (genetics). It has an ISSN identifier of 0016-6723. It is also open access. Over the lifetime, 3155 publications have been published receiving 113875 citations. The journal is also known as: Genetical research & Genet Res.


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Journal ArticleDOI
TL;DR: If the selective coefficients at the linked locus are small compared to those at the substituted locus, it is shown that the probability of complete fixation at the links is approximately exp (− Nc), where c is the recombinant fraction and N the population size.
Abstract: SUMMARY When a selectively favourable gene substitution occurs in a population, changes in gene frequencies will occur at closely linked loci. In the case of a neutral polymorphism, average heterozygosity will be reduced to an extent which varies with distance from the substituted locus. The aggregate eifect of substitution on neutral polymorphism is estimated; in populations of total size 10 6 or more (and perhaps of 10 4 or more), this eifect will be more important than that of random fixation. This may explain why the extent of polymorphism in natural populations does not vary as much as one would expect from a consideration of the equilibrium between mutation and random fixation in populations of different sizes. For a selectively maintained polymorphism at a linked locus, this process will only be important in the long run if it leads to complete fixation. If the selective coefficients at the linked locus are small compared to those at the substituted locus, it is shown that the probability of complete fixation at the linked locus is approximately exp (— Nc), where c is the recombinant fraction and N the population size. It follows that in a large population a selective substitution can occur in a cistron without eliminating a selectively maintained polymorphism in the same cistron.

2,726 citations

Journal ArticleDOI
TL;DR: It was shown that the selection process can be completely specified by Ni α, Ni βand Nc and the initial gene frequencies and linkage disequilibrium coefficient and it is easily possible to generalize from computer runs at only one population size.
Abstract: (i) A computer simulation study has been made of selection on two linked loci in small populations, where both loci were assumed to have additive effects on the character under selection with no interaction between loci. If N is the effective population size, i the intensity of selection in standard units, α and β measure the effects of the two loci on the character under selection as a proportion of the pheno-typic standard deviation and c is the crossover distance between them, it was shown that the selection process can be completely specified by Ni α, Ni βand Nc and the initial gene frequencies and linkage disequilibrium coefficient. It is then easily possible to generalize from computer runs at only one population size. All computer runs assumed an initial population at linkage equilibrium between the two loci. Analysis of the results was greatly simplified by considering the influence of segregation at the second locus on the chance of fixation at the first (defined as the proportion of replicate lines in which the favoured allele was eventually fixed). (ii) The effects of linkage are sufficiently described by Nc. The relationship between chance of fixation at the limit and linkage distance (expressed as 2Nc /( 2Nc + 1)) was linear in the majority of computer runs. (iii) When gene frequency changes under independent segregation were small, linkage had no effect on the advance under selection. In general, segregation at the second locus had no detectable influence on the chance of fixation at the first if the gene effects at the second were less than one-half those at the first. With larger gene effects at the second locus, the chance of fixation passed through a minimum and then rose again. For two loci to have a mutual influence on one another, their effects on the character under selection should not differ by a factor of more than two. (iv) Under conditions of suitable relative gene effects, the influence of segregation at the second locus was very dependent on the initial frequency of the desirable allele. The chance of fixation at the first, plotted against initial frequency of the desirable allele at the second, passed through a minimum when the chance of fixation at the second locus was about 0·8. (v) A transformation was found which made the influence of segregation at the second locus on the chance of fixation at the first almost independent of initial gene frequency at the first and of gene effects at the first locus when these are small. (vi) In the population of gametes at final fixation, linkage was not at equilibrium and there was an excess of repulsion gametes. (vii) The results were extended to a consideration of the effect of linkage on the limits under artificial selection. Linkage proved only to be of importance when the two loci had roughly equal effects on the character under selection. The maximum effect on the advance under selection occurred when the chance of fixation at both of the loci was between 0·7 and 0·8. When the advance under selection is most sensitive to changes in recombination value, a doubling of the latter in no case increased the advance under selection by more than about 6%. The proportion selected to give maximum advance under individual selection (0·5 under independent segregation) was increased, but only very slightly, when linkage is important. (viii) These phenomena could be satisfactorily accounted for in terms of the time scale of the selection process and the effective size of the population within which changes of gene frequency at the locus with smaller effect must take place.

1,776 citations

Journal ArticleDOI
TL;DR: The five most important variables explaining variation among estimates, in order of importance, were fluctuation in population size, variance in family size, form of TV used, taxonomic group and unequal sex-ratio.
Abstract: Summary The effective population size is required to predict the rate of inbreeding and loss of genetic variation in wildlife. Since only census population size is normally available, it is critical to know the ratio of effective to actual population size (NJN). Published estimates of NJN (192 from 102 species) were analysed to identify major variables affecting the ratio, and to obtain a comprehensive estimate of the ratio with all relevant variables included. The five most important variables explaining variation among estimates, in order of importance, were fluctuation in population size, variance in family size, form of TV used (adults v. breeders v. total size), taxonomic group and unequal sex-ratio. There were no significant effects on the ratio of high v. low fecundity, demographic r. genetic methods of estimation, or of overlapping v. non-overlapping generations when the same variables were included in estimates. Comprehensive estimates of NJN (that included the effects of fluctuation in population size, variance in family size and unequal sex-ratio) averaged only 0-10—0-11. Wildlife populations have much smaller effective population sizes than previously recognized.

1,305 citations

Journal ArticleDOI
TL;DR: The model indicates how precise breakage and rejoining of chromatids could occur in the vicinity of the conversion, so that conversion would frequently be accompanied by the recombination of outside markers.
Abstract: A mechanism for gene conversion is proposed which overcomes many of the difficulties that any copy choice model encounters. It is suggested that along with general genetic pairing of homologous genomes at meiosis, effective pairing over short regions of the genetic material occurs at the molecular level by the separation of the strands of the DNA double helices, followed by the annealing of strands from two homologous chromatids. If the annealed region happens to span a heterozygous site, mispairing of bases will occur. Such a situation may be analogous to that in DNA which is damaged by mutagens; the same or similar repair mechanisms may operate, and these, by adjusting the base sequences in order to restore normal base pairing, would bring about gene conversion in the absence of any genetic replication. The model indicates how precise breakage and rejoining of chromatids could occur in the vicinity of the conversion, so that conversion would frequently be accompanied by the recombination of outside markers. The model also proposes that the distance between two mutant sites on a fine structure map depends not so much on the frequency of a recombinational event occurring between them, but rather on the degree of inhibition of the processes of genetic pairing by the mutants themselves. The model will explain almost all the data in a formal way, and it has the advantage over copy choice mechanisms for gene conversion in (1) being compatible with semi-conservative replication of DNA, (2) not invoking DNA synthesis during or after genetic pairing, (3) providing a molecular mechanism for close specific pairing, (4) making it unnecessary to postulate sister strand exchange or a process akin to this, (5) suggesting why rates of gene conversion in opposite directions are sometimes unequal and (6) providing an explanation of the clustering of mutant sites, a basis for map expansion and for the apparently capricious departure of fine structure maps from additivity. Although the model proposed is a general rather than a specific one, it suggests that the process of conversion and intragenic recombination is more complex than is usually believed, since it depends on several interacting factors. Nevertheless, it is hoped that the introduction of a model with this complexity will help to stimulate specific experiments, and that these will provide definitive information which would never be obtained if simpler models of conversion and intragenic recombination were believed to explain the genetic data sufficiently well.

1,240 citations

Journal ArticleDOI
TL;DR: A new model of mutational production of alleles was proposed and it was shown that for this model the ‘effective’ number of selectively neutral alleles maintained in a population of the effective size N e under mutation rate υ per generation is given by When 4 N e υ is small, this differs little from the conventional formula by Kimura & Crow.
Abstract: A new model of mutational production of alleles was proposed which may be appropriate to estimate the number of electrophoretically detectable alleles maintained in a finite population. The model assumes that the entire allelic states are expressed by integers (…, A−1, A0, A1, …) and that if an allele changes state by mutation the change occurs in such a way that it moves either one step in the positive direction or one step in the negative direction (see also Fig. 1). It was shown that for this model the ‘effective’ number of selectively neutral alleles maintained in a population of the effective size Ne under mutation rate υ per generation is given byWhen 4Neυ is small, this differs little from the conventional formula by Kimura & Crow, i.e. ne = 1 + 4Neυ, but it gives a much smaller estimate than this when 4Neυ is large.

1,143 citations

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No. of papers from the Journal in previous years
YearPapers
202326
202282
202114
20206
201912
20188