Biomedical subjects
Publications and source records attributed to C Strobeck.
The expected values of the probabilities of identity by descent are derived for the circular stepping-stone model. The results are more easily interpreted than those derived previously.
The structures of rDNA spacers from several species have been characterized and virtually all have internally repeated sequences. Different numbers of these internal repeats are responsible for most spacer length variation. Because unequal recombination between these internal repeats will cause new length variation, while unequal exchange between rDNA copies will homogenize the variants, we modeled the interaction of these two processes. Two models were used to simulate both types of unequal exchange at the sister chromatid level. Both models indicate that a narrow range of relative recombination frequencies is required to produce levels of variability comparable to those published. One model puts a lower limit on the number of internal repeats, and the other puts both a lower and upper limit on the number of repeats. The model with both maximum and minimum constraints produces a distribution closer to actual spacer distributions. These results imply that small changes in recombination rates can generate the differences in numbers of length variants observed in different species.
rDNA nontranscribed spacer (NTS) lengths of Drosophila mercatorum have been measured in individuals from several geographic regions. Individuals from the different geographic subpopulations share some length fragments but are in general distinct. The length differences, both within and between individuals, arise from different copy numbers of a 250-bp repeating unit that is localized to one part of the NTS. In addition to the length differences caused by the 250-bp repeat, there is a Y chromosome (male)-specific length variant elsewhere in the NTS that is approximately 70 bp shorter than the NTS fragment from the X chromosome. Sexual dimorphism seems to be present in all Drosophila. Also, D. mercatorum has fewer NTS length variants per individual than does D. melanogaster while possessing comparable levels of restriction-site polymorphism. The mechanisms that may cause this pattern of variation are selection, gene conversion, and unequal recombination.
The sampling theory for the infinite site model taking into account the phylogenetic relationship between the alleles is developed for those cases in which two or three alleles are observed in the sample. From this theory a maximum likelihood estimate of theta = 4N mu can be obtained. Unlike the maximum likelihood estimate of theta based on the infinite allele model or the number of segregating sites, this estimate of theta is a function of the frequencies of the alleles. This method is used to estimate theta for mitochondrial DNA in Drosophila melanogaster and D. virilis from data obtained by Shah and Langley (1979. Nature (London) 281, 696-699) using restriction endonucleases.
The expected value of the squared linkage disequilibrium is derived for a neutral locus associated with a chromosomal arrangement that is maintained in the population by strong balancing selection. For a given value of recombination, the expected squared linkage disequilibrium is shown to decrease as the intensity of selection maintaining the arrangement increases. The transient behavior of the expected square linkage disequilibrium is also derived. This theory applies to loci that are closely linked to inversions in Drosophila species and to loci closely linked to the differential segments of the translocation complexes in ring-forming species of Oenothera. In both cases the strong linkage disequilibria that have been observed in natural populations can be explained by random drift.
The variance of three-locus linkage disequilibria for an equilibrium infinite alleles model is solved numerically on a computer, using identity coefficients. It is shown that the variance of three-locus linkage disequilibrium created by random drift, although smaller than the variance of two-locus linkage disequilibrium, is of the same order of magnitude. Hence third-order disequilibria are not necessarily good indications of selection. The formula for the variance of linkage disequilibrium is given when there is no recombination between the genes. This model can also be interpreted as intragenic recombination between three sites within a gene.
A method is shown to determine the expected pattern of codon use for any given set of mutation rates between nucleotides and any set of fitnesses for the codons. If it is assumed that mutations to stop codons are lethal then those codons which can mutate in one step to a stop codon tend to be used less frequently. This tendency is however, a very small one and is not likely to be observable within a single gene. Nor is it necessarily a general tendency. For example, the leucine pretermination codons may be used preferentially when mutations to proline are deleterious. It is shown that different mutation rates (eg: transitions occurring more frequently than transversions) may have as large an effect on codon usage as would strong selection for particular codons. For the model presented, an increase in the rate of transitions strongly decreases the expected frequency of UGG and CRR codons. Other codes are moderately affected by such a change in the mutation rates. Many other models can be examined using this method.
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This paper proposes that alleles increasing recombination rates may be selected for as a result of the perturbing effects of the spread of selectively favored alleles on neighboring loci maintained polymorphic by sleection. The recombination genes are favored since their presence increases the production of selectively advantageous types of gametes with which they tend to remain associated. Numerical examples are presented, and some consequences of this model discussed. One such consequence is the wicespread existence of polymorphism for genes affecting recombination values.
A survey of protein variability has been made in wild populations of Silene maritima, a perennial outcrossing coastal plant. In the most extensively studied populations, at Beesands, six out of 21 loci were polymorphic, and the average heterozygosity was 0.153. Four polymorphic loci were studied on an extensive shingle beach at Dungeness. Three loci showed no frequency cline with distance from the sea; a fourth locus, that for adenylate kinase, showed a barely significant cline, which was not confirmed by a repeat study in the same place a year later. Five polymorphic loci were studied at Beesands along a strip of shingle beach and up a contiguous cliff. No frequency difference between the two habitats was observed. There are significant differences in allelic frequencies between localities. It is concluded that the data fail to show an association between habitat and gene frequency, although they were collected in such a way as to be capable of demonstrating such an association if it existed.
The criteria for stability of the equilibrium with D=0 are obtained for the two locus model with multiplicative or symmetric fitnesses when the recombination values in males and females are different. It is shown that if r is defined to be equal to the average of the recombination values in males and females, then the criteria are exactly the same as in the standard two locus model.-The equilibrium values with D not equal0 are obtained for the symmetric fitness model. At this equilibrium, the absolute value of D is always greater (for the same average recombination value) if the recombination values in males and females differ than if they are equal.
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Grizzly bears are abundant in the region of the Prudhoe Bay oil fields in northern Alaska. We used field observations and molecular genetic data to identify parent-offspring and sibling relationships among bears in this region. We determined genotypes at 14 microsatellite DNA loci and the cytochrome b gene of mitochondrial DNA (mtDNA) for 36 bears. We identified 17 possible mother-offspring pairs and 8 possible father-offspring pairs. This includes verification of the relationships of 14 mother-offspring pairs identified from field observations. Three additional mother-offspring pairs and all eight father-offspring pairs were determined from genetic and age data. Relatedness coefficients based on numbers of shared alleles between individuals were as expected: approximately 0.50 for parent-offspring and sibling pairs and approximately 0.75 for a father-offspring pair resulting from a father-daughter mating. The level of genetic variation (mean number of alleles per locus = 6.6, mean heterozygosity = 70%) and allele frequencies in grizzly bears in the Prudhoe Bay region are similar to those in other parts of the species' range.
The phylogenetic relationships of 21 pheasant and 6 non-pheasant species were determined using nucleotide sequences from the mitochondrial cytochrome b gene. Maximum parsimony and maximum likelihood analysis were used to try to resolve the phylogenetic relationships within Phasianidae. Both the degree of resolution and strength of support are improved over previous studies due to the testing of a number of species from multiple pheasant genera, but several major ambiguities persist. Polyplectron bicalcaratum (grey peacock pheasant) is shown not to be a pheasant. Alternatively, it appears ancestral to either the partridges or peafowl. Pucrasia macrolopha macrolopha (koklass) and Gallus gallus (red jungle fowl) both emerge as non-pheasant genera. Monophyly of the pheasant group is challenged if Pucrasia macrolopha macrolopha and Gallus gallus are considered to be pheasants. The placement of Catreus wallichii (cheer) within the pheasants also remains undetermined, as does the cause for the great sequence divergence in Chrysolophus pictus obscurus (black-throated golden). These results suggest that alterations in taxonomic classifications may be required for some pheasant species and genera.
We report data from analyses of microsatellite loci of 30 grizzly bear family groups which demonstrate that each cub in a litter can be sired independently, and we derive estimates of maximum reproductive success for males, from an Arctic population in northwestern Alaska that is minimally affected by human activities. These analyses were made possible by the use of single-locus primers that amplified both of an individual's alleles at eight microsatellite loci and by detailed knowledge of maternal/offspring relationships that allowed the identification of paternal alleles. No single male was responsible for more than approximately 11% of known offspring, and no more than 49% of breeding-age males successfully bred. These data contribute to an understanding of the genetic and demographic basis of male reproductive success, which is of vital importance in the maintenance of small, isolated grizzly bear populations.