Low levels of transposable element activity in Drosophila mauritiana: causes and consequences

Low levels of transposable element activity in Drosophila mauritiana: causes and consequences

Robert Kofler , Christian Schlötterer
doi: http://dx.doi.org/10.1101/018218

Transposable elements (TEs) are major drivers of genomic and phenotypic evolution, yet many questions about their biology remain poorly understood. Here, we compare TE abundance between populations of the two sister species D. mauritiana und D. simulans and relate it to the more distantly related D. melanogaster. The low population frequency of most TE insertions in D. melanogaster and D. simulans has been a key feature of several models of TE evolution. In D. mauritiana, however, the majority of TE insertions are fixed (66%). We attribute this to a lower transposition activity of up to 47 TE families in D. mauritiana, rather than stronger purifying selection. Only three families, including the extensively studied Mariner, may have a higher activity in D. mauritiana. This remarkable difference in TE activity between two recently diverged Drosophila species (≈ 250,000 years), also supports the hypothesis that TE copy numbers in Drosophila may not reflect a stable equilibrium where the rate of TE gains equals the rate of TE losses by negative selection. We propose that the transposition rate heterogeneity results from the contrasting ecology of the two species: the extent of vertical extinction of TE families and horizontal acquisition of active TE copies may be very different between the colonizing D. simulans and the island endemic D. mauritiana. Our findings provide novel insights in the evolution of TEs in Drosophila and suggest that the ecology of the host species could be a major, yet underappreciated, factor governing the evolutionary dynamics of TEs.

Fast principal components analysis reveals independent evolution of ADH1B gene in Europe and East Asia

Fast principal components analysis reveals independent evolution of ADH1B gene in Europe and East Asia

Kevin J Galinsky , Gaurav Bhatia , Po-Ru Loh , Stoyan Georgiev , Sayan Mukherjee , Nick J Patterson , Alkes L Price
doi: http://dx.doi.org/10.1101/018143

Principal components analysis (PCA) is a widely used tool for inferring population structure and correcting confounding in genetic data. We introduce a new algorithm, FastPCA, that leverages recent advances in random matrix theory to accurately approximate top PCs while reducing time and memory cost from quadratic to linear in the number of individuals, a computational improvement of many orders of magnitude. We apply FastPCA to a cohort of 54,734 European Americans, identifying 5 distinct subpopulations spanning the top 4 PCs. Using a new test for natural selection based on population differentiation along these PCs, we replicate previously known selected loci and identify three new signals of selection, including selection in Europeans at the ADH1B gene. The coding variant rs1229984 has previously been associated to alcoholism and shown to be under selection in East Asians; we show that it is a rare example of independent evolution on two continents.

The African wolf is a missing link in the wolf-like canid phylogeny

The African wolf is a missing link in the wolf-like canid phylogeny

Eli K. Rueness , Pål Trosvik , Anagaw Atickem , Claudio Sillero-Zubiri , Emiliano Trucchi
doi: http://dx.doi.org/10.1101/017996

Here we present the first genomic data for the African wolf (Canis aureus lupaster) and conclusively demonstrate that it is a unique taxon and not a hybrid between other canids. These animals are commonly misclassified as golden jackals (Canis aureus) and have never been included in any large-scale studies of canid diversity and biogeography, or in investigations of the early stages of dog domestication. Applying massive Restriction Site Associated DNA (RAD) sequencing, 110481 polymorphic sites across the genome of 7 individuals of African wolf were aligned and compared with other wolf-like canids (golden jackal, Holarctic grey wolf, Ethiopian wolf, side-striped jackal and domestic dog). Analyses of this extensive sequence dataset (ca. 8.5Mb) show conclusively that the African wolves represent a distinct taxon more closely related to the Holarctic grey wolf than to the golden jackal. Our results strongly indicate that the distribution of the golden jackal needs to be re-evaluated and point towards alternative hypotheses for the evolution of the rare and endemic Ethiopian wolf (Canis simensis). Furthermore, the extension of the grey wolf phylogeny and distribution opens new possible scenarios for the timing and location of dog domestication.

Testing for ancient selection using cross-population allele frequency differentiation

Testing for ancient selection using cross-population allele frequency differentiation

Fernando Racimo
doi: http://dx.doi.org/10.1101/017566
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A powerful way to detect selection in a population is by modeling local allele frequency changes in a particular region of the genome under scenarios of selection and neutrality, and finding which model is most compatible with the data. Chen et al. (2010) developed a composite likelihood method called XP-CLR that uses an outgroup population to detect departures from neutrality which could be compatible with hard or soft sweeps, at linked sites near a beneficial allele. However, this method is most sensitive to recent selection and may miss selective events that happened a long time ago. To overcome this, we developed an extension of XP-CLR that jointly models the behavior of a selected allele in a three-population tree. Our method – called 3P-CLR – outperforms XP-CLR when testing for selection that occurred before two populations split from each other, and can distinguish between those events and events that occurred specifically in each of the populations after the split. We applied our new test to population genomic data from the 1000 Genomes Project, to search for selective sweeps that occurred before the split of Africans and Eurasians, but after their split from Neanderthals, and that could have presumably led to the fixation of modern-human-specific phenotypes. We also searched for sweep events that occurred in East Asians, Europeans and the ancestors of both populations, after their split from Africans.

Denisovan Ancestry in East Eurasian and Native American Populations.

Denisovan Ancestry in East Eurasian and Native American Populations.

Pengfei Qin , Mark Stoneking
doi: http://dx.doi.org/10.1101/017475

Although initial studies suggested that Denisovan ancestry was found only in modern human populations from island Southeast Asia and Oceania, more recent studies have suggested that Denisovan ancestry may be more widespread. However, the geographic extent of Denisovan ancestry has not been determined, and moreover the relationship between the Denisovan ancestry in Oceania and that elsewhere has not been studied. Here we analyze genome-wide SNP data from 2493 individuals from 221 worldwide populations, and show that there is a widespread signal of a very low level of Denisovan ancestry across Eastern Eurasian and Native American (EE/NA) populations. We also verify a higher level of Denisovan ancestry in Oceania than that in EE/NA; the Denisovan ancestry in Oceania is correlated with the amount of New Guinea ancestry, but not the amount of Australian ancestry, indicating that recent gene flow from New Guinea likely accounts for signals of Denisovan ancestry across Oceania. However, Denisovan ancestry in EE/NA populations is equally correlated with their New Guinea or their Australian ancestry, suggesting a common source for the Denisovan ancestry in EE/NA and Oceanian populations. Our results suggest that Denisovan ancestry in EE/NA is derived either from common ancestry with, or gene flow from, the common ancestor of New Guineans and Australians, indicating a more complex history involving East Eurasians and Oceanians than previously suspected.

Long live the alien: studying the fate of the genomic diversity along the long-term dynamics of an extremely successful invader, the crested porcupine.

Long live the alien: studying the fate of the genomic diversity along the long-term dynamics of an extremely successful invader, the crested porcupine.

Emiliano Trucchi , Benoit Facon , Paolo Gratton , Emiliano Mori , Nils Chr Stenseth , Sissel Jentoft
doi: http://dx.doi.org/10.1101/016493

Describing long-term evolutionary trajectories of alien species is a fundamental, although rarely possible, step to understand the pivotal drivers of successful invasions. Here, we tackled this task by investigating the genetic structure of the crested porcupine (Hystrix cristata), whose invasion of Italy started about 1500 years ago. Using genome-wide RAD markers, we explored the demographic processes that shaped, and are shaping, the gene pool of the expanding invasive populations and compared their genetic diversity with that of native and invasive populations of both African porcupine species (crested and Cape, H. africaeaustralis). Through coalescence-based demographic reconstructions, we demonstrated that bottleneck at introduction was mild and did not severely affect the reservoir of genetic diversity. Our data also highlighted a marked geographic structure in the invasive populations, indicating that they are likely the results of multiple introduction events. Nevertheless, both the invasive populations and its source show a lower level of diversity relative to other native populations from Sub-Saharan and South Africa, suggesting that demographic history before introduction may have played a role in forging a successful invader. Finally, we showed that the current spatial expansion at the northern boundary of the range is following a leading-edge model characterized by a general reduction of genetic diversity towards the edge of the expanding range. Consistently, random fixation of alleles through gene-surfing seems a more likely explanation than adaptive divergence for the distribution of the few outlier loci with highly divergent frequencies between core and newly colonized areas.

Cline coupling and uncoupling in a stickleback hybrid zone

Cline coupling and uncoupling in a stickleback hybrid zone
Tim Vines , Anne Dalziel , Arianne Albert , Thor Veen , Patricia Schulte , Dolph Schluter
doi: http://dx.doi.org/10.1101/016832

Strong ecological selection on a genetic locus can maintain allele frequency differences between populations in different environments, even in the face of hybridization. When alleles at divergent loci come into tight linkage disequilibria, selection acts on them as a unit and can significantly reduce gene flow. For populations interbreeding across a hybrid zone, linkage disequilibria between loci can force clines to share the same slopes and centers. However, strong ecological selection can push clines away from the others, reducing linkage disequilibria and weakening the barrier to gene flow. We looked for this ‘cline uncoupling’ effect in a hybrid zone between stream resident and anadromous sticklebacks at two genes known to be under divergent natural selection (Eda and ATP1a1) and five morphological traits that repeatedly evolve in freshwater stickleback. We used 10 anonymous SNPs to characterize the shape of the zone. We found that the clines at Eda, ATP1a1, and four morphological traits were concordant and coincident, suggesting that direct selection on each is outweighed by the indirect selection generated by linkage disequilibria. Interestingly, the cline for pectoral fin length was much steeper and displaced 200m downstream, and two anonymous SNPs also had steep clines.