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| Open AccessOrigin and evolution of qingke barley in Tibet
The origin of Tibetan barley (qingke) has been a controversial issue for many years. Here, the authors conduct population genomics study to support that qingke is derived from eastern domesticated barley instead of Tibetan wild barley and suggest southern Tibetan Plateau as its introduction route.
- Xingquan Zeng
- , Yu Guo
- & Nyima Tashi
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Article
| Open AccessThe genomic landscape of molecular responses to natural drought stress in Panicum hallii
Drought is a major factor limiting crop productivity. Here, via eQTL analysis and comparative genomics, the authors show compensatory evolution between trans-regulatory loci and transcription factor binding sites that shape the drought response networks in the model C4 grass Panicum hallii.
- John T. Lovell
- , Jerry Jenkins
- & Thomas E. Juenger
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Article
| Open AccessDisease-associated genotypes of the commensal skin bacterium Staphylococcus epidermidis
Staphylococcus epidermidis is carried asymptomatically by virtually all humans but is also a major cause of nosocomial infection. Here, the authors study 141 isolates from healthy carriage and 274 isolates from clinical infections, and identify genes and genetic elements associated with pathogenicity.
- Guillaume Méric
- , Leonardos Mageiros
- & Samuel K. Sheppard
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Article
| Open AccessGrowth factor gene IGF1 is associated with bill size in the black-bellied seedcracker Pyrenestes ostrinus
Pyrenestes finches have a bill size polymorphism thought to be maintained by disruptive selection. Here, the authors identify a single candidate region, including insulin-like growth factor 1, differentiating small and large bill size morphs and a wider region differentiating the mega-billed morph.
- Bridgett M. vonHoldt
- , Rebecca Y. Kartzinel
- & Thomas B. Smith
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Article
| Open AccessPhenotype loss is associated with widespread divergence of the gene regulatory landscape in evolution
Cis-regulatory elements are important factors for morphological changes. Here, the authors show widespread divergence of limb and eye regulatory elements in limb loss in snakes and eye degeneration in subterranean mammals respectively.
- Juliana G. Roscito
- , Katrin Sameith
- & Michael Hiller
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Article
| Open AccessCloning of the wheat Yr15 resistance gene sheds light on the plant tandem kinase-pseudokinase family
Yellow rust fungus severely limits global wheat production and breeding of durable resistance is challenging. Here Klymiuk et al. isolate the broad-spectrum Yr15 resistance gene from wild emmer wheat and show that it is a member of a distinct tandem kinase-pseudokinase family of plant proteins.
- Valentina Klymiuk
- , Elitsur Yaniv
- & Tzion Fahima
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Article
| Open AccessPredicting nutrient content of ray-finned fishes using phylogenetic information
Humans increasingly depend on seafood for nutrition, but nutrient content is unknown for the vast majority of fish species. Here, the authors use phylogenetic analyses and data imputation to predict the nutrient content of fish that are under-studied but that could be of future dietary importance.
- Bapu Vaitla
- , David Collar
- & Christopher D. Golden
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Article
| Open AccessExtremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
Germline mutation rate is a critical parameter in the study of genetics and evolution. Here, Carlson et al. infer fine-scale patterns of human mutation rate heterogeneity by analyzing ~36 million singleton variants from 3560 whole-genome sequences.
- Jedidiah Carlson
- , Adam E. Locke
- & Stanley J. Watson
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Article
| Open AccessLTR retrotransposons transcribed in oocytes drive species-specific and heritable changes in DNA methylation
De novo DNA methylation during mouse oogenesis occurs within transcribed regions. Here the authors investigate the role of species-specific long terminal repeats (LTRs)-initiated transcription units in regulating the oocyte methylome, identifying syntenic regions in mouse, rat and human with divergent DNA methylation associated with private LITs.
- Julie Brind’Amour
- , Hisato Kobayashi
- & Matthew C. Lorincz
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Article
| Open AccessSpindle tubulin and MTOC asymmetries may explain meiotic drive in oocytes
During ‘meiotic drive’, some chromosomes can bias their spindle orientation and thus be retained in the egg. Here, the authors find that this phenomenon can be driven by microtubule force asymmetry on chromosomes with differently sized centromeres and kinetochores.
- Tianyu Wu
- , Simon I. R. Lane
- & Keith T. Jones
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Article
| Open AccessGene expression drives the evolution of dominance
Dominance is difficult to measure in natural populations as it is confounded with fitness. Here, Huber et al. developed a new approach to co-estimate dominance and selection coefficients, and found that the observed relationship is best fit by a new model of dominance based on gene expression level.
- Christian D. Huber
- , Arun Durvasula
- & Kirk E. Lohmueller
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Correspondence
| Open AccessReply to ‘Inconclusive evidence for rapid adaptive evolution’
- Camilla Lo Cascio Sætre
- , Charles Coleiro
- & Fabrice Eroukhmanoff
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Correspondence
| Open AccessInconclusive evidence for rapid adaptive evolution
- Júlio Manuel Neto
- , Staffan Bensch
- & Bengt Hansson
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Article
| Open AccessReconstruction of the diapsid ancestral genome permits chromosome evolution tracing in avian and non-avian dinosaurs
Ancient diapsids diverged into the lineages leading to turtles and birds over 250 million years ago. Here, the authors use genomic and molecular cytogenetic analyses of modern species to infer the genome structure of the diapsid common ancestor (DCA) and the changes occurring along the lineage to birds through theropod dinosaurs.
- Rebecca E. O’Connor
- , Michael N. Romanov
- & Darren K. Griffin
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Article
| Open AccessMultiple convergent supergene evolution events in mating-type chromosomes
Supergenes result from beneficial linkage and recombination suppression between two or more genes. Giraud and colleagues use whole genome sequencing data to show convergent evolution of supergenes on mating-type chromosomes in multiple closely-related fungal lineages.
- Sara Branco
- , Fantin Carpentier
- & Tatiana Giraud
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Article
| Open AccessPhenotypic diversification by enhanced genome restructuring after induction of multiple DNA double-strand breaks
DNA double-strand break (DSB) leads to genome rearrangements with various genetic and phenotypic effects. Here, the authors develop a tool to induce large-scale genome restructuring by introducing conditional multiple DNA breaks, and produce various traits in yeast and Arabidopsis thaliana.
- Nobuhiko Muramoto
- , Arisa Oda
- & Kunihiro Ohta
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Article
| Open AccessEvolutionary instability of CUG-Leu in the genetic code of budding yeasts
The genetic code for amino acids is nearly universal, and among eukaryotic nuclear genomes the only known reassignments are of codon CUG in yeasts. Here, the authors identify a third independent CUG transition in budding yeasts that is still ongoing with alternative tRNAs present in the genome.
- Tadeusz Krassowski
- , Aisling Y. Coughlan
- & Kenneth H. Wolfe
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Article
| Open AccessDeep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
Recent natural selection left signals in human genomes. Here, Okada et al. generate high-depth whole-genome sequence (WGS) data (25.9×) from 2,234 Japanese people of the BioBank Japan Project (BBJ), and identify signals of recent natural selection which overlap variants associated with human traits.
- Yukinori Okada
- , Yukihide Momozawa
- & Yoichiro Kamatani
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| Open AccessThe genomic and functional landscapes of developmental plasticity in the American cockroach
The American cockroach (Periplaneta americana) is an hemimetabolous insect with rapid growth, high fecundity, and remarkable tissue-regeneration capability. Here Li et al sequence its 3.38-Gb genome and perform the functional studies, yielding insights into its environmental adaptation and developmental plasticity.
- Sheng Li
- , Shiming Zhu
- & Shuai Zhan
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Article
| Open AccessThe genetic prehistory of the Baltic Sea region
The population history of Europe is complex and its very north has not yet been comprehensively studied at a genetic level. Here, Mittnik et al. report genome-wide data from 38 ancient individuals from the Eastern Baltic, Russia and Scandinavia to analyse gene flow throughout the Mesolithic and Bronze Age.
- Alissa Mittnik
- , Chuan-Chao Wang
- & Johannes Krause
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Article
| Open AccessCulex pipiens crossing type diversity is governed by an amplified and polymorphic operon of Wolbachia
Wolbachia causes cytoplasmic incompatibility (CI) between mosquitoes infected with different strains, but the genetic basis of observed CI diversity is unknown. Here, Bonneau et al. sequence Wolbachia from over 100 Culex pipiens lines and show that crossing types match variations of the toxin-antitoxin cidA-cidB genes.
- Manon Bonneau
- , Celestine Atyame
- & Mylène Weill
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Article
| Open AccessThe evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy
In a subset of patients with chronic lymphocytic leukemia (CLL) treated with targeted agents, such as ibrutinib, drug resistant subclones emerge. Here, the authors report on transcriptional changes in CLL patients treated with ibrutinib and identify early clonal shifts associated with evolution of resistant clones.
- Dan A. Landau
- , Clare Sun
- & Catherine J. Wu
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Article
| Open AccessWhole-genome sequencing for an enhanced understanding of genetic variation among South Africans
African populations show a high level of genetic diversity and extensive regional admixture. Here, the authors sequence the whole genomes of 24 South African individuals of different ethnolinguistic origin and find substantive genomic divergence between two southeastern Bantu-speaking groups.
- Ananyo Choudhury
- , Michèle Ramsay
- & Michael S. Pepper
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Article
| Open AccessLarge-scale suppression of recombination predates genomic rearrangements in Neurospora tetrasperma
Genomic rearrangements can be either a cause or a consequence of large-scale suppression of recombination in a genome. Here, Sun et al. show that recombination may be suppressed in collinear genomic regions, and that inversions may accumulate over time in a derived manner.
- Yu Sun
- , Jesper Svedberg
- & Hanna Johannesson
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Article
| Open AccessTriparental plants provide direct evidence for polyspermy induced polyploidy
The fertilization of an egg by more than one sperm is typically lethal. Here, via a novel reporter assay, Nakel et al. report the generation of triparental triploid Arabidopsis plants, implying that polyspermy is a plausible route toward polyploidy during plant evolution.
- Thomas Nakel
- , Dawit G. Tekleyohans
- & Rita Groß-Hardt
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Article
| Open AccessEffective purifying selection in ancient asexual oribatid mites
Asexual reproduction is thought to be an evolutionary dead end in eukaryotes because deleterious mutations will not be purged effectively. Here, Brandt and colleagues show that anciently asexual oribatid mites in fact have reduced accumulation of deleterious mutations compared to their sexual relatives.
- Alexander Brandt
- , Ina Schaefer
- & Jens Bast
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Article
| Open AccessReproductive fitness and genetic risk of psychiatric disorders in the general population
Why genetic variants that confer risk for psychiatric disorders persist in the genome is an evolutionary conundrum. Here, Mullinset al. report association of polygenic risk for autism with having fewer children and polygenic risk for ADHD with higher reproductive fitness.
- Niamh Mullins
- , Andrés Ingason
- & Kari Stefansson
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Article
| Open AccessAncient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods
Archaeological and historical records had shown ancient Egypt before and after Ptolemaic and Roman periods to be a hub of human migration and exchange. Here, Schuenemann and colleagues analyse ancient mitochondrial and nuclear DNA to investigate the genetic history of Egypt.
- Verena J. Schuenemann
- , Alexander Peltzer
- & Johannes Krause
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Article
| Open AccessA time transect of exomes from a Native American population before and after European contact
A First Nation population declined after European contact, likely as a result of infectious disease. Here, researchers partner with indigenous communities to analyse ancient and modern Native American exomes, and find a shift in selection pressure on immune genes, correlated to European-borne epidemics.
- John Lindo
- , Emilia Huerta-Sánchez
- & Ripan S. Malhi
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Article
| Open AccessDciA is an ancestral replicative helicase operator essential for bacterial replication initiation
DNA replication requires the loading of the replicative helicase onto the DNA molecule; in bacteria this was believed to be solely accomplished by DnaC and DnaI. Here the authors identify DciA as an ancestral and still widely distributed replicative helicase loader.
- Pierre Brézellec
- , Isabelle Vallet-Gely
- & Jean-Luc Ferat
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Article
| Open AccessGenome sequence of the basal haplorrhine primate Tarsius syrichta reveals unusual insertions
Tarsiers occupy a key node between strepsirrhines and anthropoids in the primate phylogeny. Here, Warren and colleagues present the genome of Tarsius syrichta, including a survey of transposable elements, an unusual mitochondrial insertion, and evidence for positive gene selection.
- Jürgen Schmitz
- , Angela Noll
- & Wesley C. Warren
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Article
| Open AccessExcess of mutational jackpot events in expanding populations revealed by spatial Luria–Delbrück experiments
Large mutant clones arising from early mutations in growing cell populations facilitate short-term evolution in microbes and in tumours. Here the authors analyse spatially expanding colonies, and show that large mutant clones can also arise late when they surf at expanding frontiers.
- Diana Fusco
- , Matti Gralka
- & Oskar Hallatschek
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Article
| Open AccessEctomycorrhizal ecology is imprinted in the genome of the dominant symbiotic fungus Cenococcum geophilum
The ascomycete Cenococcum geophilum is a beneficial mycorrhizal symbiont found frequently on tree roots. Here the authors use comparative genomics and transcriptomics to define genomic signatures that differentiate the beneficial C. geophilumfrom its saprotrophic and pathogenic relatives.
- Martina Peter
- , Annegret Kohler
- & Francis M. Martin
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Article
| Open AccessRefuting the hypothesis that the acquisition of germ plasm accelerates animal evolution
The evolution of germ cell specification by maternal germ plasm has been proposed to accelerate vertebrate protein evolution by liberating selective constraints. Whittle and Extavour analyse global rates of protein evolution and find no support for this hypothesis in vertebrates or invertebrates.
- Carrie A. Whittle
- & Cassandra G. Extavour
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Article
| Open AccessAdaptive evolution of complex innovations through stepwise metabolic niche expansion
A fundamental question in evolutionary biology is how complex innovations requiring multiple genetic changes arise. Here the authors provide lines of evidence that changing environments facilitate the adaptive evolution of complex metabolic innovations via stepwise acquisition of single reactions.
- Balázs Szappanos
- , Jonathan Fritzemeier
- & Balázs Papp
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| Open AccessEvolution of the fish heart by sub/neofunctionalization of an elastin gene
The bulbus arteriosus is an organ unique to the heart of teleosts, composed of specialized smooth muscle. Here, the authors show that the gene elastin b, which regulates cell fate of cardiac precursor cells into smooth muscle, evolved after whole-genome duplication and neofunctionalization in teleosts.
- Yuuta Moriyama
- , Fumihiro Ito
- & Kazuko Koshiba-Takeuchi
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Article
| Open AccessRecurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution
Papillary renal cell carcinoma (pRCC) is a subtype of kidney cancer characterized by highly variable clinical behaviour. Here the authors sequence either the genomes or exomes of 31 pRCCs and identify several genes in sub-clones and large copy number variants in major clones that may be important drivers of pRCC.
- Michal Kovac
- , Carolina Navas
- & Ian Tomlinson
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Article
| Open AccessEvolution of dominance mechanisms at a butterfly mimicry supergene
The evolution of genetic dominance in polymorphic traits remains poorly understood. Here, the authors show that distinct dominance mechanisms have evolved in association with supergene inversions controlling wing pattern in Heliconiusbutterflies, in response to strong selection favouring mimicry.
- Yann Le Poul
- , Annabel Whibley
- & Mathieu Joron
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Evolutionary triage governs fitness in driver and passenger mutations and suggests targeting never mutations
The accumulation of genetic and epigenetic mutations in cancer cells can drive malignant growth. Here, the authors model the evolution of intratumoral diversity and examine the classification of driver and passenger mutations, heterogeneity within tumours, and the dynamics of tumour response to targeted therapies.
- R. A. Gatenby
- , J. J. Cunningham
- & J. S. Brown
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Article
| Open AccessThe complex jujube genome provides insights into fruit tree biology
The jujube is a major dry fruit crop in China and is commonly used for medicinal purposes. Here the authors sequence the genome and transcriptome of the most widely cultivated jujube cultivar, Dongzao, and highlight the genetic and molecular basis of agronomically important jujube traits, such as vitamin C content.
- Meng-Jun Liu
- , Jin Zhao
- & Long-Hai Luo
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Article |
Host–parasite network structure is associated with community-level immunogenetic diversity
Genes of the major histocompatibility complex (MHC) are crucial for immune response, yet it is unclear what shapes their diversity at a community level. Here, the authors show that indirect effects among rodent hosts and their helminth parasites can play a crucial role in shaping host MHC diversity.
- Shai Pilosof
- , Miguel A. Fortuna
- & Jordi Bascompte
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Article
| Open AccessThe evolution of cichlid fish egg-spots is linked with a cis-regulatory change
The mechanisms underlying the emergence of novel morphological traits are largely unknown. Here, the authors show that cis-regulatory changes controlling the expression of the fhl2bpigmentation gene are associated with the evolution of egg-spots colour markings in the male fins of a group of cichlids.
- M. Emília Santos
- , Ingo Braasch
- & Walter Salzburger
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Article
| Open AccessCompact genome of the Antarctic midge is likely an adaptation to an extreme environment
The Antarctic midge, Belgica antarctica, is the only insect endemic to Antarctica. Here, the authors sequence the B. antarcticagenome, the smallest insect genome yet reported, and suggest that genes involved in development, metabolism and stimuli response may have had a role in how this insect adapted to survive in such a harsh environment.
- Joanna L. Kelley
- , Justin T. Peyton
- & David L. Denlinger
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Article
| Open AccessThe Opisthorchis viverrini genome provides insights into life in the bile duct
The Asian liver fluke is a parasitic worm that is linked to an increased risk of malignant cancer. Here, the authors sequence the draft genome and transcriptome of this fluke and provide insight into how the species has adapted to be able to survive in the bile duct.
- Neil D. Young
- , Niranjan Nagarajan
- & Robin B. Gasser
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Opposing effects of target overexpression reveal drug mechanisms
Overexpression of a drug’s molecular target increases drug resistance in some cases. Here the authors show that overexpressing antibiotic targets in Escherichia colican cause positive and negative changes in drug resistance, depending on whether the drug induces harmful reactions involving its target.
- Adam C. Palmer
- & Roy Kishony
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Article
| Open AccessVariation in Arabidopsis flowering time associated with cis-regulatory variation in CONSTANS
The transcription factor CONSTANS regulates the timing of flowering in Arabidopsis. Rosas et al. report that genetic variation in the cis-regulatory regions of this gene contributes to natural phenotypic variation in flowering time.
- Ulises Rosas
- , Yu Mei
- & Michael D. Purugganan
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A mutation in the enzyme monoamine oxidase explains part of the Astyanax cavefish behavioural syndrome
Astyanax mexicanus exists as either river-dwelling or cave-adapted subtypes. Elipot et al.identify a mutation in the cavefish monoamine oxidase gene, which leads to differential serotonin degradation in the brain and which may be associated with differences in behaviour between the subtypes.
- Yannick Elipot
- , Hélène Hinaux
- & Sylvie Rétaux
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Evolution under monogamy feminizes gene expression in Drosophila melanogaster
Males and females show unique patterns of gene expression, but it is unclear if this dimorphism is genetically constrained. Here, Hollis et al. use experimental evolution in Drosophila melanogasterto reveal unresolved conflict between the sexes over gene expression caused by sexual selection.
- Brian Hollis
- , David Houle
- & Laurent Keller
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Horizontal gene transfer of a vertebrate vasodilatory hormone into ticks
The impact of horizontal gene transfer (HGT) on the evolution of higher eukaryotes is not fully understood. Here the authors suggest that the vertebrate vasodilator, adrenomedullin (ADM), was horizontally acquired by ticks and hypothesize that the HGT of ADM triggers the emergence of a new tick genus.
- Shiroh Iwanaga
- , Haruhiko Isawa
- & Masao Yuda