On the accumulation of deleterious mutations during range expansions

We investigate the effect of spatial range expansions on the evolution of fitness when beneficial and deleterious mutations co-segregate. We perform individual-based simulations of a uniform linear habitat and complement them with analytical approximations for the evolution of mean fitness at the edge of the expansion. We find that deleterious mutations accumulate steadily on the wave front during range expansions, thus creating an expansion load. Reduced fitness due to the expansion load is not restricted to the wave front but occurs over a large proportion of newly colonized habitats. The expansion load can persist and represent a major fraction of the total mutation load thousands of generations after the expansion. Our results extend qualitatively and quantitatively to two-dimensional expansions. The phenomenon of expansion load may explain growing evidence that populations that have recently expanded, including humans, show an excess of deleterious mutations. To test the predictions of our model, we analyze patterns of neutral and non-neutral genetic diversity in humans and find an excellent fit between theory and data

Seed Longevity And Climatic Tolerance Of San Joaquin Wooly-Threads (Monolopia Congdonii; Asteraceae) An Endangered Plant From The San Joaquin Desert, California

San Joaquin wooly-threads (Monolopia congdonii; Asteraceae) is a federally-listed, endangered annual plant species from the desert areas of the San Joaquin Valley. Its limited range puts it at risk of extinction if the climate changes in such a way as to hinder its growth and reproduction. The primary aims of the study were to 1) determine how long-lived the seeds of the M. congdonii are, a key determinant of survival of desert annual plant populations through long droughts and 2) determine how severely hotter, drier conditions impact the ability of emerged plants to grow and reproduce. Secondarily, I aimed to test two hypotheses 1) is seed longevity within the genus Monolopia correlated with habitat aridity? 2) do species’ geographic range limits represent their climatic tolerances? In testing the viability of seeds of Monolopia species collected from herbarium specimens and old field collections, I did not find evidence for the predicted pattern of seed longevity. Though, idiosyncrasies in the data suggest possible issues with the longevity of M. congdonii seeds that are collected prematurely and warrant further investigation to develop best practices for seed collections of this species. To test the climatic tolerance of M. congdonii and the relationship between geographic range and climatic tolerance, I grew several desert annual species under three manipulated water treatments. And while, M. congdonii failed to germinate, the other species showed variable tolerance for the drought treatments but this variability was seemingly unrelated to the species’ geographic range. Importantly, Monolopia lanceolata, a close relative of M. congdonii did not show exceptional vulnerability to the drought-stress conditions relative to other co-occuring species. Taken together, the results of this study enable better informed population viability analyses with the end goal of allowing recovery efforts to succeed

Variants of the human PPARG locus and the susceptibility to chronic periodontitis

Apart from its regulatory function in lipid and glucose metabolism, peroxisome proliferator-activated receptor (PPAR)γ has impact on the regulation of inflammation and bone metabolism. The aim of the study was to investigate the association of five polymorphisms (rs10865710, rs2067819, rs3892175, rs1801282, rs3856806) within the PPARG gene with chronic periodontitis. The study population comprised 402 periodontitis patients and 793 healthy individuals. Genotyping of the PPARG gene polymorphisms was performed by PCR and melting curve analysis. Comparison of frequency distribution of genotypes between individuals with periodontal disease and healthy controls for the polymorphism rs3856806 showed a P-value of 0.04 but failed to reach significance after correction for multiple testing (P  0.90). A 3-site analysis (rs2067819-rs1801282-rs3856860) revealed five haplotypes with a frequency of ≥1% among cases and controls. Following adjustment for age, gender and smoking, none of the haplotypes was significantly different between periodontitis and healthy controls after Bonferroni correction. This study could not show a significant association between PPARG gene variants and chronic periodontitis

SIMCOAL 2.0: a program to simulate genomic diversity over large recombining regions in a subdivided population with a complex history

Summary: We present an extension of the program SIMCOAL, which allows for simulation of the genomic diversity of samples drawn from a set of populations with arbitrary patterns of migrations and complex demographic histories, including bottlenecks and various modes of demographic expansion. The main additions to the previous version include the possibility of arbitrary and heterogeneous recombination rates between adjacent loci and multiple coalescent events per generation, allowing for the simulation of very large samples and recombining genomic regions, together with the simulation of single nucleotide polymorphism data with frequency ascertainment bias. Availability: http://cmpg.unibe.ch/software/simcoal2/ Supplementary information: http://cmpg.unibe.ch/software/simcoal

fastsimcoal: a continuous-time coalescent simulator of genomic diversity under arbitrarily complex evolutionary scenarios

Motivation: Genetic studies focus on increasingly larger genomic regions of both extant and ancient DNA, and there is a need for simulation software to match these technological advances. We present here a new coalescent-based simulation program fastsimcoal, which is able to quickly simulate a variety of genetic markers scattered over very long genomic regions with arbitrary recombination patterns under complex evolutionary scenarios. Availability and Implementation: fastsimcoal is a C++ program compiled for Windows, MacOsX and Linux platforms. It is freely available at cmpg.unibe.ch/software/fastsimcoal/, together with its detailed user manual and example input files. Contact: [email protected] Supplementary Information: Supplementary data are available at Bioinformatics onlin

Modern Humans Did Not Admix with Neanderthals during Their Range Expansion into Europe

The process by which the Neanderthals were replaced by modern humans between 42,000 and 30,000 before present is still intriguing. Although no Neanderthal mitochondrial DNA (mtDNA) lineage is found to date among several thousands of Europeans and in seven early modern Europeans, interbreeding rates as high as 25% could not be excluded between the two subspecies. In this study, we introduce a realistic model of the range expansion of early modern humans into Europe, and of their competition and potential admixture with local Neanderthals. Under this scenario, which explicitly models the dynamics of Neanderthals' replacement, we estimate that maximum interbreeding rates between the two populations should have been smaller than 0.1%. We indeed show that the absence of Neanderthal mtDNA sequences in Europe is compatible with at most 120 admixture events between the two populations despite a likely cohabitation time of more than 12,000 y. This extremely low number strongly suggests an almost complete sterility between Neanderthal females and modern human males, implying that the two populations were probably distinct biological species

PGDSpider: an automated data conversion tool for connecting population genetics and genomics programs

Summary: The analysis of genetic data often requires a combination of several approaches using different and sometimes incompatible programs. In order to facilitate data exchange and file conversions between population genetics programs, we introduce PGDSpider, a Java program that can read 27 different file formats and export data into 29, partially overlapping, other file formats. The PGDSpider package includes both an intuitive graphical user interface and a command-line version allowing its integration in complex data analysis pipelines. Availability: PGDSpider is freely available under the BSD 3-Clause license on http://cmpg.unibe.ch/software/PGDSpider/ Contact: [email protected] Supplementary information: Supplementary data are available at Bioinformatics onlin

High variability and non-neutral evolution of the mammalian avpr1a gene

<p>Abstract</p> <p>Background</p> <p>The arginine-vasopressin 1a receptor has been identified as a key determinant for social behaviour in <it>Microtus </it>voles, humans and other mammals. Nevertheless, the genetic bases of complex phenotypic traits like differences in social and mating behaviour among species and individuals remain largely unknown. Contrary to previous studies focusing on differences in the promotor region of the gene, we investigate here the level of functional variation in the coding region (exon 1) of this locus.</p> <p>Results</p> <p>We detected high sequence diversity between higher mammalian taxa as well as between species of the genus <it>Microtus</it>. This includes length variation and radical amino acid changes, as well as the presence of distinct protein variants within individuals. Additionally, negative selection prevails on most parts of the first exon of the <it>arginine-vasopressin receptor 1a (avpr1a) </it>gene but it contains regions with higher rates of change that harbour positively selected sites. Synonymous and non-synonymous substitution rates in the <it>avpr1a </it>gene are not exceptional compared to other genes, but they exceed those found in related hormone receptors with similar functions.</p> <p>Discussion</p> <p>These results stress the importance of considering variation in the coding sequence of <it>avpr1a </it>in regards to associations with life history traits (e.g. social behaviour, mating system, habitat requirements) of voles, other mammals and humans in particular.</p