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Ancestral polymorphisms are defined as variants that arose by mutation prior to the speciation event that generated the species in which they segregate. Their presence may complicate the interpretation of molecular data and lead to incorrect phylogenetic inferences. They may also be used to identify regions of the genome that are under balancing selection. It is thus important to take into account the contribution of ancestral polymorphisms to variability within species and divergence between species. Here, we extend and improve a method for estimation of the proportion of ancestral polymorphisms within a species, and apply it to a dataset of 33 X-linked and 34 autosomal protein-coding genes for which sequence polymorphism data are available in both Drosophila pseudoobscura and Drosophila miranda, using Drosophila affinis as an outgroup. We show that a substantial proportion of both X-linked and autosomal synonymous variants in these two species are ancestral, and that a small number of additional genes with unusually high sequence diversity seem to have an excess of ancestral polymorphisms, suggestive of balancing selection.
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http://dx.doi.org/10.1017/S0016672311000206 | DOI Listing |
Nat Genet
September 2025
Department of Statistics, University of California, Berkeley, CA, USA.
The Ancestral Recombination Graph (ARG), which describes the genealogical history of a sample of genomes, is a vital tool in population genomics and biomedical research. Recent advancements have substantially increased ARG reconstruction scalability, but they rely on approximations that can reduce accuracy, especially under model misspecification. Moreover, they reconstruct only a single ARG topology and cannot quantify the considerable uncertainty associated with ARG inferences.
View Article and Find Full Text PDFG3 (Bethesda)
September 2025
Department of Biology, Stanford University, Stanford, CA 94305, USA.
The ψ directionality index was introduced by Peter & Slatkin (Evolution 67: 3274-3289, 2013) to infer the direction of range expansions from single-nucleotide polymorphism variation. Computed from the joint site frequency spectrum for two populations, ψ uses shared genetic variants to measure the difference in the amount of genetic drift experienced by the populations, associating excess drift with greater distance from the origin of the range expansion. Although ψ has been successfully applied in natural populations, its statistical properties have not been well understood.
View Article and Find Full Text PDFMol Phylogenet Evol
September 2025
Laboratory of Evolutionary Genomics and Paleogenomics, Zoological Institute Russian Academy of Sciences, Saint Petersburg, Russia. Electronic address:
Cases of intergeneric introgression have been poorly studied. That is why the mito-nuclear discordance in the tribe Clethrionomyini has been confusing and attracted our special attention. The phylogenetic position of the subgenus Aschizomys of rock voles (Alticola) has long been debated: a discussion that has resurfaced after early phylogenetic studies on cytochrome b placed Aschizomys with Clethrionomys (red-backed voles).
View Article and Find Full Text PDFEvolution
September 2025
Department of Ecology and Evolutionary Biology, University of Toronto, Toronto, Ontario, Canada M5S 3B2.
Intraspecific phenotypic variation provides the basic substrate upon which the evolutionary processes that give rise to morphological innovation, such as adaptation, operate. Work in living clades has shown standing population-level variation fuels ecological speciation and gives rise to adaptive radiations. Despite its importance in evolutionary biology, the role of intraspecific variation in shaping phylogenetic and macroevolutionary patterns and processes has remained underexplored.
View Article and Find Full Text PDFEcol Evol
September 2025
CEFE, CNRS, EPHE, IRD Univ Montpellier Montpellier France.
Knowledge of the intraspecific variability of volatiles produced by plants is central for estimating their fluxes from ecosystems and for understanding their evolution in an ecological and phylogenetic context. Past studies suggested that volatile emissions from Cork oak ( L.) exhibit a high degree of qualitative and quantitative polymorphism.
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