Genome assemblies are currently being produced at an impressive rate by consortia and individual laboratories. The low costs and increasing efficiency of sequencing technologies now enable assembling genomes at unprecedented quality and contiguity. However, the difficulty in assembling repeat‐rich and GC‐rich regions (genomic “dark matter”) limits insights into the evolution of genome structure and regulatory networks. Here, we compare the efficiency of currently available sequencing technologies (short/linked/long reads and proximity ligation maps) and combinations thereof in assembling genomic dark matter. By adopting different de novo assembly strategies, we compare individual draft assemblies to a curated multiplatform reference assembly and identify the genomic features that cause gaps within each assembly. We show that a multiplatform assembly implementing long‐read, linked‐read and proximity sequencing technologies performs best at recovering transposable elements, multicopy MHC genes, GC‐rich microchromosomes and the repeat‐rich W chromosome. Telomere‐to‐telomere assemblies are not a reality yet for most organisms, but by leveraging technology choice it is now possible to minimize genome assembly gaps for downstream analysis. We provide a roadmap to tailor sequencing projects for optimized completeness of both the coding and noncoding parts of nonmodel genomes.
It is a broadly observed pattern that the non-recombining regions of sex-limited chromosomes (Y and W) accumulate more repeats than the rest of the genome, even in species like birds with a low genome-wide repeat content. Here, we show that in birds with highly heteromorphic sex chromosomes, the W chromosome has a transposable element (TE) density of greater than 55% compared to the genome-wide density of less than 10%, and contains over half of all full-length (thus potentially active) endogenous retroviruses (ERVs) of the entire genome. Using RNA-seq and protein mass spectrometry data, we were able to detect signatures of female-specific ERV expression. We hypothesize that the avian W chromosome acts as a refugium for active ERVs, probably leading to female-biased mutational load that may influence female physiology similar to the ‘toxic-Y’ effect in Drosophila males. Furthermore, Haldane's rule predicts that the heterogametic sex has reduced fertility in hybrids. We propose that the excess of W-linked active ERVs over the rest of the genome may be an additional explanatory variable for Haldane's rule, with consequences for genetic incompatibilities between species through TE/repressor mismatches in hybrids. Together, our results suggest that the sequence content of female-specific W chromosomes can have effects far beyond sex determination and gene dosage. This article is part of the theme issue ‘Challenging the paradigm in sex chromosome evolution: empirical and theoretical insights with a focus on vertebrates (Part II)’.
The passerine family Meliphagidae (the honeyeaters) comprises 175–180 species in 40–50 genera. It is an iconic element of the Australo‐Papuan avifauna and also occurs in Indonesia and on remote Pacific Ocean islands. Building on previous molecular studies that have pioneered a renewed understanding of the family's circumscription and systematics, we present an updated phylogenetic and systematics synthesis of honeyeaters derived from 112 mostly Australian, New Guinean and Wallacean species‐ and subspecies‐rank taxa aligned across 9246 positions spanning four mitochondrial and four nuclear genes. We affirm many of the recent changes advocated to the group's genus‐level systematics and offer some further refinements. The group's radiation appears to coincide broadly with the aridification of Australia in the Miocene, consistent with the time of origin of diversification of extant lineages in several other groups of Australian organisms. Most importantly, the complexity of the biogeography underlying the group's spectacular radiation, especially within Australia, is now apparent. Foremost among such examples is the robust evidence indicating that multiple, independent lineages of honeyeaters, including several monotypic genera, are endemic to the Australian arid zone, presumably having diverged and evolved within it. Also apparent and warranting further study are the phenotypic diversity among close relatives and the remarkably disjunct distributions within some clades, perhaps implying extinction of geographically intermediate lineages. Given such complexity, understanding the evolution of this radiation, which has thus far been intractable, relies on integration of molecular data with morphology, ecology and behaviour.
When tested under laboratory conditions, Goffin’s cockatoos (Cacatua goffiniana) demonstrate numerous sophisticated cognitive skills. Most importantly, this species has shown the ability to manufacture and use tools. However, little is known about the ecology of these cockatoos, endemic to the Tanimbar Islands in Indonesia. Here we provide first insights into the feeding- and socio-ecology of the wild Goffin’s cockatoos and propose potential links between their behaviour in natural settings and their advanced problem-solving capacities shown in captivity. Observational data suggests that Goffin’s cockatoos rely on a large variety of partially seasonal resources. Furthermore, several food types require different extraction techniques. These ecological and behavioural characteristics fall in line with current hypotheses regarding the evolution of complex cognition and innovativeness. We discuss how the efficiency of (extractive) foraging may preclude tool use in wild Goffin’s cockatoos, even though the corresponding cognitive and ecological prerequisites seem to be present.
Tropical mountains harbor exceptional concentrations of Earth’s biodiversity. In topographically complex landscapes, montane species typically inhabit multiple mountainous regions, but are absent in intervening lowland environments. Here we report a comparative analysis of genome-wide DNA polymorphism data for population pairs from eighteen Indo-Pacific bird species from the Moluccan islands of Buru and Seram and from across the island of New Guinea. We test how barrier strength and relative elevational distribution predict population differentiation, rates of historical gene flow, and changes in effective population sizes through time. We find population differentiation to be consistently and positively correlated with barrier strength and a species’ altitudinal floor. Additionally, we find that Pleistocene climate oscillations have had a dramatic influence on the demographics of all species but were most pronounced in regions of smaller geographic area. Surprisingly, even the most divergent taxon pairs at the highest elevations experience gene flow across barriers, implying that dispersal between montane regions is important for the formation of montane assemblages.
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