Genomic inference of a human super bottleneck in the Early Stone Age

The demographic history has been a foundation of human evolutionary studies for more than a century. In this study, we developed a novel method referred to as the fast infinitesimal time coalescent (FitCoal) process. This method allows the accurate calculation of the composite likelihood of a site frequency spectrum and provides the precise inference of recent and ancient demographic history. Genomic sequences of the 1000 Genomes Project and the Human Genome Diversity Project-Centre d'Etude du Polymorphisme Humain panel were analyzed. Results showed that all ten African populations had a population super bottleneck, a small effective size of approximately 1,280 breeding individuals between 813 and 930 thousand years ago, and a 20-fold rapid growth at the end of the bottleneck. The super bottleneck caused a loss of 65.85% in current human genetic diversity, but it may have separated our ancestors from other hominins. Further analysis confirmed the existence of the super bottleneck in all 40 non-African populations. Our results provide new insights into human evolution in the Early Stone Age.

Evolution of mutation rates in hypermutable populations of Escherichia coli propagated at very small effective population size

Mutation is the ultimate source of the genetic variation—including variation for mutation rate itself—that fuels evolution. Natural selection can raise or lower the genomic mutation rate of a population by changing the frequencies of mutation rate modifier alleles associated with beneficial and deleterious mutations. Existing theory and observations suggest that where selection is minimized, rapid systematic evolution of mutation rate either up or down is unlikely. Here, we report systematic evolution of higher and lower mutation rates in replicate hypermutable Escherichia coli populations experimentally propagated at very small effective size—a circumstance under which selection is greatly reduced. Several populations went extinct during this experiment, and these populations tended to evolve elevated mutation rates. In contrast, populations that survived to the end of the experiment tended to evolve decreased mutation rates. We discuss the relevance of our results to current ideas about the evolution, maintenance and consequences of high mutation rates.

DNA Polymorphism at the Pgi Locus of a Wild Yam, Dioscorea tokoro

To study the origin and maintenance mechanisms of the PGI allozyme polymorphism of a wild plant, Dioscorea tokoro, DNA sequences of the entire coding region (1701 bp) and two intronic regions (total 2049 bp) of the Pgi gene as well as a part of the Adh gene (590 bp) were analyzed. Two replacement substitutions were revealed to be responsible for the differentiation of three allozymes alleles (Pgi-a, Pgi-b and Pgi-c) that occur in natural population in intermediate frequencies. Interspecific comparison of DNA sequences identified Pgi-6 as the oldest allele, from which two other alleles were derived probably within the last 150,000 years. The level of DNA polymorphism at D. tokoro Pgi locus was low. No elevated level of DNA polymorphism was detected in the close vicinity of the two replacement sites differentiating the three allozymes. Departures from the neutral mutation hypothesis were detected by Fu and Li's and MK tests. The observed patterns of DNA polymorphism are explainable by both (1) the neutral mutation hypothesis with an assumption of small effective size of D. tokoro population, and (2) the positive selection hypothesis that the allele frequencies of Pgi-a and Pgi-c have increased in a short time by their selective advantages.

Population and Conservation Genetics of Marsupials

This article summarises current knowledge of marsupial population genetics, and discusses its relevance to the conservation of marsupial species. It has been suggested that there is much lower genetic variation within marsupial populations than in eutherian mammals. This trend is not evident in the electrophoretic data summarised here. However, genetic differentiation between populations, subspecies, and species of marsupials appears to be slightly lower than comparable values for eutherians. Genetic estimates of migration between populations are scarce at present, but show values that are comparable with eutherians. Some studies of marsupial population genetics have used non-electrophoretic characteristics, or have addressed the possibility of selection on the characters analysed. Although few, these studies indicate the suitability of marsupials for such investigations. Recent debate over the theories and applications of conservation genetics has made it clear that more research is required on individual species. Given the record of extinction of marsupials in the last 200 years, it is important to test the applicability of these theories to individual marsupial species. Several examples are discussed emphasising the need for ecological studies that estimate the effective number of reproducing individuals per generation. This figure, called the effective size, is the corner- stone of conservation genetics theory, being an important determinant of both the rate of loss of variation between individuals, and the rate of inbreeding. The effective size of the mainland population of the eastern barred bandicoot, Perameles gunnii, appears to be only about one-tenth of its census number. This result is comparable with estimates made in other vertebrates, and demonstrates that many marsupial species which appear to have an adequate census size on ecological grounds may face genetic problems resulting from small effective size.