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Evolutionary genetics of metamorphic failure using wild-caught vs. laboratory axolotls (Ambystoma mexicanum).

In many organisms metamorphosis allows for an ecologically important habitat-shift from water to land. However, in some salamanders an adaptive life cycle mode has evolved that is characterized by metamorphic failure (paedomorphosis); these species remain in the aquatic habitat throughout the life cycle. Perhaps the most famous example of metamorphic failure is the Mexican axolotl (Ambystoma mexicanum), which has become a focal species for developmental biology since it was introduced into laboratory culture in the 1800s. Our previous genetic linkage mapping analysis, using an interspecific crossing design, demonstrated that a major gene effect underlies the expression of metamorphic failure in laboratory stocks of the Mexican axolotl. Here, we repeated this experiment using A. mexicanum that were sampled directly from their natural habitat at Lake Xochimilco, Mexico. We found no significant association between the major gene and metamorphic failure when wild-caught axolotls were used in the experimental design, although there is evidence of a smaller genetic effect. Thus, there appears to be genetic variation among Mexican axolotls (and possibly A. tigrinum tigrinum) at loci that contribute to metamorphic failure. This result suggests a role for more than one mutation and possibly artificial selection in the evolution of the major gene effect in the laboratory Mexican axolotl.

Ambystoma mexicanum↗

Evolutionary genetics of the encapsulated strains of Haemophilus influenzae.

Genetic relationships among 2209 isolates of Haemophilus influenzae of polysaccharide capsule serotypes a, b, c, d, e, and f were determined by analyzing electrophoretically demonstrable allelic variation at 17 chromosomal enzyme loci. We distinguished 280 electrophoretic types (ETs), representing distinctive multilocus genotypes. Genetic diversity among ETs of isolates of the same serotype was, on average, only 67% of that in the total sample, and no ETs were shared among isolates of different serotypes. Cluster analysis of the ETs revealed 2 primary phylogenetic divisions at a genetic distance of 0.66 and 12 major lineages diverging from one another at distances greater than 0.42. In general, strains of different phylogenetic lines or groups of allied lineages have characteristic cap region restriction fragment length polymorphism patterns obtained by digestion of genomic DNA with EcoRI. Strains producing serotype c, e, and f capsules have no close relationships to those of other encapsulated strains. Lineages of both serotype a and b strains occur in each primary phylogenetic division, most probably as a result of the transfer of serotype-specific sequences of the cap region between clonal lineages. Serotype a strains allied in division I with a group of abundant serotype b clones and the serotype d strains apparently are more virulent than the serotype a strains in division II, which are related to serotype b and f strains that rarely cause invasive disease.

Alleles↗

Libsequence: a C++ class library for evolutionary genetic analysis.

UNLABELLED: A C++ class library is available to facilitate the implementation of software for genomics and sequence polymorphism analysis. The library implements methods for data manipulation and the calculation of several statistics commonly used to analyze SNP data. The object-oriented design of the library is intended to be extensible, allowing users to design custom classes for their own needs. In addition, routines are provided to process samples generated by a widely used coalescent simulation. AVAILABILITY: The source code (in C++) is available from http://www.molpopgen.org

Algorithms↗

An approach to population and evolutionary genetic theory for genes in mitochondria and chloroplasts, and some results.

We developed population genetic theory for organelle genes, using an infinite alleles model appropriate for molecular genetic data, and considering the effects of mutation and random drift on the frequencies of selectively neutral alleles. The effects of maternal inheritance and vegetative segregation of organelle genes are dealt with by defining new effective gene numbers, and substituting these for 2N(e) in classical theory of nuclear genes for diploid organisms. We define three different effective gene numbers. The most general is N(lambda), defined as a function of population size, number of organelle genomes per cell, and proportions of genes contributed by male and female gametes to the zygote. In many organisms, vegetative segregation of organelle genomes and intracellular random drift of organelle gene frequencies combine to produce a predominance of homoplasmic cells within individuals in the population. Then, the effective number of organelle genes is N(eo), a simple function of the numbers of males and females and of the maternal and paternal contributions to the zygote. Finally, when the paternal contribution is very small, N( eo) is closely approximated by the number of females, N( f). Then if the sex ratio is 1, the mean time to fixation or loss of new mutations is approximately two times longer for nuclear genes than for organelle genes, and gene diversity is approximately four times greater. The difference between nuclear and organelle genes disappears or is reversed in animals in which males have large harems. The differences between nuclear and organelle gene behavior caused by maternal inheritance and vegetative segregation are generally small and may be overshadowed by differences in mutation rates to neutral alleles. For monoecious organisms, the effective number of organelle genes is approximately equal to the total population size N. We also show that a population can be effectively subdivided for organelle genes at migration rates which result in panmixis for nuclear genes, especially if males migrate more than females.

Alleles↗

A widespread silent polymorphism of human carbonic anhydrase III (31 Ile in equilibrium Val): implications for evolutionary genetics.

During amino acid sequence studies of carbonic anhydrase (CA) III, purified from a pool of human skeletal muscles, and electrophoretically undetectable (silent) variation was found at residue 31 which was either valine and/or isoleucine. To distinguish a simple allelic polymorphism from more complex models involving gene duplication, 11 separate CA III samples were purified from individuals of different age and racial backgrounds. Peptide mapping by high performance liquid chromatography and sequencing indicated that four were homozygous for 31-Val, three homozygous for 31-Ile and four were apparent heterozygotes. Since the ratio of Val/Ile at residue 31 was approximately 1.0 in the heterozygotes, the present observations are consistent with a simple allelic polymorphism model. Despite the small sample size, there are preliminary indications that the gene frequencies may differ among racial groups. The finding of this silent allelic polymorphism together with the finding of an electrophoretically detectable polymorphism of CA II permits us to test the linkage of the CA II and CA III genes which appear to have been formed by gene duplication more than 300 million years ago. The possibility that the Val/Ile variation may represent a neutral mutation is discussed.

Adolescent↗

Neandertal evolutionary genetics: mitochondrial DNA data from the iberian peninsula.

Mitochondrial DNA (mtDNA) was retrieved for the first time from a Neandertal from the Iberian Peninsula, excavated from the El Sidrón Cave (Asturias, North of Spain), and dated to ca. 43,000 years ago. The sequence suggests that Iberian Neandertals were not genetically distinct from those of other regions. An estimate of effective population size indicates that the genetic history of the Neandertals was not shaped by an extreme population bottleneck associated with the glacial maximum of 130,000 years ago. A high level of polymorphism at sequence position 16258 reflects deeply rooted mtDNA lineages, with the time to the most recent common ancestor at ca. 250,000 years ago. This coincides with the full emergence of the "classical" Neandertal morphology and fits chronologically with a proposed speciation event of Homo neanderthalensis.

Animals↗

The evolutionary genetics of sexual systems in flowering plants.

Population genetic studies of the evolution of breeding systems in flowering plants are reviewed. The selective advantage of a gene's increasing the selfing rate is stressed. In the evolution of outbreeding mechanisms, some strong disadvantage to selfing must therefore be acting; it is suggested that this disadvantage is inbreeding depression. Populations with no absolute barrier to selfing, and with intermediate levels of self-fertilization, appear to be the most likely starting state for the evolution of outbreeding mechanisms. There is some evidence for inbreeding depression in such populations. The evolution of distyly and dioecy are considered in some detail. An explanation for the existence of supergenes controlling these systems is proposed. The breakdown of distyly and tristyly are also considered. The evolution of recombination rates in selfing and outcrossing species is examined briefly.

Biological Evolution↗

Mitochondrial DNA and the evolutionary genetics of higher animals.

Mitochondrial DNA (mtDNA) in higher animals is rapidly becoming a well characterized genetic system at the molecular level. In this paper, I shift the focus to consider questions in organismal evolution that can be addressed by mtDNA assay. For the first time, it is possible to estimate empirically matriarchal phylogeny; to determine directionality in crosses producing hybrids; and to study the population genetic consequences of varying female demographies and life histories. The data obtainable from mtDNA may be especially well suited for studies of population genetic structure, dispersal, and historical zoogeography. The female-mediated, clonal transmission of mtDNA is also stimulating new ways of thinking about times to common ancestry of asexual lineages within otherwise sexually reproducing populations; about the possible relevance of mtDNA-nuclear DNA interactions to reproductive isolation; and about the very meaning of the phylogenetic status of related species with respect to particular kinds of genetic characters. These and other topics are reviewed.

Animals↗

The evolutionary genetics of speciation.

The last decade has brought renewed interest in the genetics of speciation, yielding a number of new models and empirical results. Defining speciation as 'the origin of reproductive isolation between two taxa', we review recent theoretical studies and relevant data, emphasizing the regular patterns seen among genetic analyses. Finally, we point out some important and tractable questions about speciation that have been neglected.

Animals↗