The Drosophila Genome Nexus: a population genomic resource of 605 Drosophila melanogaster genomes, including 197 genomes from a single ancestral range population

The Drosophila Genome Nexus: a population genomic resource of 605 Drosophila melanogaster genomes, including 197 genomes from a single ancestral range population

Justin Lack, Charis Cardeno, Marc Crepeau, William Taylor, Russ Corbett-Detig, Kristian Stevens, Charles H. Langley, John Pool
doi: http://dx.doi.org/10.1101/009886

Hundreds of wild-derived D. melanogaster genomes have been published, but rigorous comparisons across data sets are precluded by differences in alignment methodology. The most common approach to reference-based genome assembly is a single round of alignment followed by quality filtering and variant detection. We evaluated variations and extensions of this approach, and settled on an assembly strategy that utilizes two alignment programs and incorporates both SNPs and short indels to construct an updated reference for a second round of mapping prior to final variant detection. Utilizing this approach, we reassembled published D. melanogaster population genomic data sets (previous DPGP releases and the DGRP freeze 2.0), and added unpublished genomes from several sub-Saharan populations. Most notably, we present aligned data from phase 3 of the Drosophila Population Genomics Project (DPGP3), which provides 197 genomes from a single ancestral range population of D. melanogaster (from Zambia). The large sample size, high genetic diversity, and potentially simpler demographic history of the DPGP3 sample will make this a highly valuable resource for fundamental population genetic research. The complete set of assemblies described here, termed the Drosophila Genome Nexus, presently comprises 605 consistently aligned genomes, and is publicly available in multiple formats with supporting documentation and bioinformatic tools. This resource will greatly facilitate population genomic analysis in this model species by reducing the methodological differences between data sets.

Reticulate speciation and adaptive introgression in the Anopheles gambiae species complex

Reticulate speciation and adaptive introgression in the Anopheles gambiae species complex

Jacob Crawford, Michelle M. Riehle, Wamdaogo M. Guelbeogo, Awa Gneme, N’fale Sagnon, Kenneth D. Vernick, Rasmus Nielsen, Brian P. Lazzaro
doi: http://dx.doi.org/10.1101/009837

Species complexes are common, especially among insect disease vectors, and understanding how barriers to gene flow among these populations become established or violated is critical for implementation of vector-targeting disease control. Anopheles gambiae, the primary vector of human malaria in sub-Saharan Africa, exists as a series of ecologically specialized populations that are phylogenetically nested within a species complex. These populations exhibit varying degrees of reproductive isolation, sometimes recognized as distinct subspecies. We have sequenced 32 complete genomes from field-captured individuals of Anopheles gambiae, Anopheles gambiae M form (recently named A. coluzzii), sister species A. arabiensis, and the recently discovered “GOUNDRY” subgroup of A. gambiae that is highly susceptible to Plasmodium. Amidst a backdrop of strong reproductive isolation and adaptive differentiation, we find evidence for adaptive introgression of autosomal chromosomal regions among species and populations. The X chromosome, however, remains strongly differentiated among all of the subpopulations, pointing to a disproportionately large effect of X chromosome genes in driving speciation among anophelines. Strikingly, we find that autosomal introgression has occurred from contemporary hybridization among A. gambiae and A. arabiensis despite strong divergence (~5× higher than autosomal divergence) and isolation on the X chromosome. We find a large region of the X chromosome that has recently swept to fixation in the GOUNDRY subpopulation, which may be an inversion that serves as a partial barrier to gene flow. We also find that the GOUNDRY population is highly inbred, implying increased philopatry in this population. Our results show that ecological speciation in this species complex results in genomic mosaicism of divergence and adaptive introgression that creates a reticulate gene pool connecting vector populations across the speciation continuum with important implications for malaria control efforts.

The role of standing variation in geographic convergent adaptation

The role of standing variation in geographic convergent adaptation
Peter L. Ralph, Graham Coop
doi: http://dx.doi.org/10.1101/009803

The extent to which populations experiencing shared selective pressures adapt through a shared genetic response is relevant to many questions in evolutionary biology. In a number of well studied traits and species, it appears that convergent evolution within species is common. In this paper, we explore how standing, deleterious genetic variation contributes to convergent genetic responses in a geographically spread population, extending our previous work on the topic. Geographically limited dispersal slows the spread of each selected allele, hence allowing other alleles — newly arisen mutants or present as standing variation — to spread before any one comes to dominate the population. When such alleles meet, their progress is substantially slowed — if the alleles are selectively equivalent, they mix slowly, dividing the species range into a random tessellation, which can be well understood by analogy to a Poisson process model of crystallization. In this framework, we derive the geographic scale over which a typical allele is expected to dominate, the time it takes the species to adapt as a whole, and the proportion of adaptive alleles that arise from standing variation. Finally, we explore how negative pleiotropic effects of alleles before an environment change can bias the subset of alleles that get to contribute to a species adaptive response. We apply the results to the many geographically localized G6PD deficiency alleles thought to confer resistance to malaria, whose large mutational target size and deleterious effects make them likely candidates to have been present as deleterious standing variation. We find the numbers and geographic spread of these alleles matches our predictions reasonably well, which suggest that these arose both from standing variation and new mutations since the advent of malaria. Our results suggest that much of adaptation may be geographically local even when selection pressures are wide-spread. We close by discussing the implications of these results for arguments of species coherence and the nature of divergence between species.

Most viewed on Haldane’s Sieve: September 2014

This month set a new record for traffic to Haldane’s Sieve; thanks to everyone for the support. The most viewed posts were: