Papers to discuss Spring 2016

This Spring, we have decided to have a few series of papers on related topics, to discuss one per week: Series 1 (see also discussion on Razib Khan’s blog): Moorjani et al 2013 Genetic Evidence for Recent Population Mixture in India AJHG 93,: 422–438 Basu et al 2016 Genomic reconstruction of the history of extant populations of India reveals five distinct ancestral components and a complex structure PNAS online before print van Dorp et al 2016 Evidence for a Common Origin of Blacksmiths and Cultivators in the Ethiopian Ari within the Last 4500 Years: Lessons for Clustering-Based Inference PLOS Genetics 11(8): e1005397 Series 2 (see also perspective in Science Magazine): Ku?pper et al 2016 A supergene determines highly divergent male reproductive morphs in the ruff Nature Genetics 48: 79–83 Lamichhaney et al 2016 Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pugnax) Nature Genetics 48: 84–88 The following form less of a series (although two are sex-related): Pipoly et al 2015 The genetic sex-determination system predicts adult sex ratios in tetrapods Nature 527: 91–94 Barson et al 2015 Sex-dependent dominance at a single locus maintains variation in age at maturity in salmon Nature 528: 405–408 Sulem et …

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Evolution of Darwin’s finches and their beaks revealed by genome sequencing

The recent formation and habitat diversity of the Galápagos archipelago, in conjunction with its relative isolation from the mainland, has helped the islands become rich in endemic species that have much to offer for the study of evolutionary biology. As a result of their volcanic origin and fluctuating climates, the islands of the Galápagos archipelago vary in age, size, topography and vegetation. In conjunction with their isolation from the mainland, this diversity of relatively new environments, both within and between islands, are perfect breeding grounds for speciation. The finches of the Galápagos archipelago and Cocos Island are the product of a fascinating adaptive radiation that started only about 1.5 million years ago, following the arrival of a common ancestor from South America. These finches are most notable for their diversity in beak morphology, which reflect the differences in their respective adaptations to exploiting various food resources. Charles Darwin’s observations of this diversity in beak morphology played an important role in the development of his theory of natural selection. “Seeing this gradation and diversity of structure in one small, intimately related group of birds, one might really fancy that from an original paucity of birds in this archipelago, one species had …

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Convergent evolution of the genomes of marine mammals

Introduction Convergent evolution is the independent evolution of similar features in species of different lineages. Marine mammals from different mammalian orders share several phenotypic traits adapted to the aquatic environment is a very classic example of convergent evolution. Although there are potentially several genomic routes to reach the same phenotypic outcome, it has been suggested that the genomic changes underlying convergent evolution may to some extent be reproducible and that convergent phenotypic traits may commonly arise from the same genetic changes. To investigate convergent evolution at the genomic level, the authors present high-coverage whole-genome sequences for four marine mammal species: the walrus (Odobenus rosmarus), the bottlenose dolphin (Tursiops truncatus), the killer whale (Orcinus orca) and the West Indian manatee (Trichechus manatus latirostris)(figure 1). Here are some interesting results of this paper. Detecting positively selected protein-coding genes In order to study the molecular mechanism of convergence evolution, firstly, they focused on detecting positive selected protein-coding genes in all three orders; Branch-site likelihood ratio test is a powerful polygenetic method to detect relatively ancient selection. This test is useful for identifying positive selection along prespecified lineages that affects only a few sites in the protein. Applying branch-site likelihood ratio method, they totally tested a series of four different …

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Evolution of Darwin’s finches and their beaks revealed by genome sequencing

Introduction Darwin’s finches from Galapagos and Cocos Island are classic example of young adaptive radiation, entirely intact because none of the species having become extinct as a result of human activity. They have diversified in beak sizes and shapes, feeding habits and diets in adapting to different food resources. Although traditional taxonomy of Darwin’s is based on morphology and has been largely supported by observations of breeding birds finches, in this paper, authors showed the results of whole-genome re-sequencing of 120 individuals representing all of the Darwin’s finch species inhabiting Galapagos archipelago (Fig. 1a) and two close relatives, trying to analyse patterns of intra-and interspecific genome diversity and phylogenetic relationships among the species. Figure 1a. Sample location of Darwin’s finches Summary and comments of the paper The authors analyzed location and phylogeny of Darwin’s finches and found widespread evidence of interspecific gene flow that may have enhanced evolutionary diversification throughout phylogeny. They also reported discovery of a locus with the major effect on beak shape. They generated 10x sequence coverage per individual bird and using 2×100 base-pair (bp) paired-end reads and found evidence of introgression from three sources: ABBA-BABA tests, discrepancies between phylogenetic trees based on autosomal and sex linked …

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The genomic landscape underlying phenotypic integrity in the face of gene flow in crows

In this paper authors returned to the question about the role of interspecific gene flow for the evolution and species diversification. Authors studied hybrid zone between two bird classes of the all-black carrion crows (Corvus corone) and the gray-coated hooded crows (C. cornix). Their morphological hybrid zone in Europe gives the possibility to study the effects of introgression on evolution during early species divergence. Authors identified genome-wide introgression and showed the divergence in the expression levels of genes, implicated in plumage coloration in both species, and genes, involved in visual perception, that could be important for maintaining phenotypic differences and responsible for heterogeneity in introgression landscapes. Principal results Firstly, authors assembled a high-quality reference genome of one hooded crow male which was aligned to chicken and zebra finch genomes and, then, annotated through mRNA sequencing. Consequently, a set of 20.794 protein coding genes containing open reading frames of more than 100 amino acids was found. RNA seq data was used to validate identified in silico genes. Then, authors resequenced 60 genomes of unrelated birds from four populations of carrion and of hooded crows and found 8.44 million single-nucleotide polymorphisms (SNPs) segregated across all investigated populations. Interestingly, carrion and hooded crows …

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The genomic substrate for adaptive radiation in African cichlid fish

In African lakes, cichlid fishes are famous for large, diverse and replicated adaptive radiations. Nearly 1,500 new species of cichlid fish evolved in a few million years when environmentally determined opportunity for sexual selection and ecological niche expansion was met by an evolutionary lineage with unusual potential to adapt, speciate and diversify. The phenotypic diversity encompasses variation in behaviour, body shape, coloration and ecological specialization. The frequent occurrence of convergent evolution of similar ecotypes suggests a primary role of natural selection in shaping cichlid phenotypic diversity. To identify the ecological and molecular basis of divergent evolution in the cichlid system, David et al. [1] sequenced the genomes and transcriptomes of five lineages of African cichlids, Pundamilia nyererei (endemic of Lake Victoria); Neolamprologus brichardi (endemic of Lake Tanganyika); Metriaclima zebra (endemic of Lake Malawi); Oreochromis niloticus (from rivers across northern Africa); Astatotilapia burtoni (from rivers connected to Lake Tanganyika). These five lineages diverged primarily through geographical isolation, and three of them subsequently underwent adaptive radiations in the three largest lakes of Africa. Authors comprehensively investigate the features from these massive genomic data. Here is some interesting finding: Accelerated gene evolution was assessed by non-synonymous/synonymous ratio. Compare with stickleback fish, O. niloticus has significant …

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The genomic substrate for adaptive radiation in African cichlid fish

Evolutionary diversification among species attracts the attention of scientist during long time. Adaptive radiation underlies evolution and comprises the rapid adaptation of a single lineage to its changed environment which provides new resources and opens new environmental niches. Among all biological groups which have undergone evolutionary adaptive radiation the cichlids have been more studied by biologists. In this paper, authors investigated the molecular mechanisms and genomic substrates triggering rapid evolutionary diversification in African cichlid fish through comparative analysis of genomes of five different African cichlid lineages, together with an examination of the genetic changes responsible for divergence in six closely related species from Lake Victoria. They found some differences in all investigated East African lineages compared to ancestral, including increasing gene duplication, an excess of non-coding elements, accelerated evolution of coding sequence and divergence in the expression levels connected with transposons insertions. They also discovered novel microRNAs that alter gene expression in cichlids and genome-wide diversifying selection in coding and regulatory elements. Thus, authors have concluded that multiple molecular mechanisms together with relaxed purifying selection can promote evolutionary diversification in African cichlid fish. Principle results and discussion Authors selected and sequenced the genome of five lineages of African cichlids: four …

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The genomic landscape underlying phenotypic integrity in the face of gene flow in crows

The role of interspecific gene flow in species diversification has long been debated and is increasingly appreciated. However, the effect of gene introgression on phenotypic divergences and genome heterogeneity remain unclear in case of early speciation. To investigate these questions Poelstra and colleagues studied the hybrid zone between the all-black carrion crows (Corvus corone) and the gray-coated hooded crows (C. cornix). Indeed, the absence of neutral genetic diversity between these two species and successful back-crossing of hybrids strongly contrast with the plumage coloration polymorphism that remained stable in natural populations. Moreover, colour assortative mating has been observed suggesting a prezygotic isolation and ongoing speciation. To investigate the causes of this stable phenotypes the authors first analysed the effect of gene flow on genome heterogeneity and then tried to link the observed gene flow heterogeneity with gene expression and phenotypes. Genetic differentiation between hooded and carrion crows First, they assembled and annotated a high-quality reference genome of one hooded male crow and identified 20’794 protein-coding genes. This reference genome was then used to aligned 60 genomes of unrelated individuals from two populations of carrion and two populations of hooded crows (Fig. 1). They identified 8.44 million of SNPs among which 5.27 …

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Crossovers are associated with mutation and biased gene conversion at recombination hotspots

Meiosis is an important biological process by which combination of various types of the genes called alleles, are segregated and packed in each germ cell waiting to be transferred and expressed in descendants. This combinations of alleles are products of chromosomal crossovers (COs) during meiotic recombination, which increases the genetic diversity of gametes. Recombination may cause local mutagenic effect at crossover sites with recurrent double strand breaks (DSBs) and thus be the source of sequence variation too. SUMMARY OF THE PAPER By sequencing a large number of single sperm DNA molecules, the authors showed that meiosis is an important source of germline mutations and consequently gene variation. They found more de novo mutations in molecules with COs then in molecules without a recombination event by amplifying single CO products, using allele-specific PCR, at two previously identified recombination hotspots (HSI and HSII) from a pool of sperm. The binding site used by the human recombination machinery contains PRDM9 (PR Domain Containing 9), very polymorphic in humans. In order to investigate why sequence diversity positively correlates with high recombination activity regions, the authors sequenced 5,796 COs in total, including both reciprocal recombination products from 6 Caucasian donors. As a control they screened …

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Evolution at two levels of gene expression in yeast

Protein abundances mainly determined by the balance of transcriptional and translational regulation. Because of the limited technology for the translational research, however, gene expression evolution was based almost entirely on studies of transcriptional regulation. With the quickly development of ribosome profiling–isolating and sequencing short fragments of mRNA bound by actively translating ribosomes–now we can study translational regulation conveniently and efficiently. Simultaneous detection of regulatory divergence at two levels In this paper, firstly, in order to assess the relative contributions of regulatory elements evolution to the changes in mRNA abundance and translation rate, the authors applied ribosome profiling and RNAseq to two species of Saccharomyces yeast (S. cerevisiae and  S. paradoxus )and their interspecific hybrid (figure 1). Within hybrids, both alleles share the same trans-acting cellular environment. Therefore, different mRNA abundance or translation efficiency is caused by cis-regulatory divergence. By applied these methods, the authors showed cis-regulatory divergence in both transcription and translation are abundant, almost 35% orthologs have significant divergence in translational efficiency, as compared with 61% with significant divergence in mRNA abundance. Because they identified cis-regulatory elements change at two regulatory levels simultaneously, an interesting question will be asked is whether changes at the two levels could be reinforcing (acting at the same direction) or opposing (acting in opposite directions). Compared …

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