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| Open AccessThe variation and evolution of complete human centromeres
A comparison of two complete sets of human centromeres reveals that the centromeres show at least a 4.1-fold increase in single-nucleotide variation compared with their unique flanks, and up to 3-fold variation in size, resulting from an accelerated mutation rate.
- Glennis A. Logsdon
- , Allison N. Rozanski
- & Evan E. Eichler
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Complexity of avian evolution revealed by family-level genomes
- Josefin Stiller
- , Shaohong Feng
- & Guojie Zhang
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Article
| Open AccessThe complex polyploid genome architecture of sugarcane
We build a polyploid reference genome for hybrid sugarcane cultivar R570, improving on its current ‘mosaic monoploid’ representation, enabling fine-grain description of genome architecture and the exploration of candidate genes underlying the Bru1 brown rust resistance locus.
- A. L. Healey
- , O. Garsmeur
- & A. D’Hont
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| Open AccessSynthetic reversed sequences reveal default genomic states
Introduction of a long synthetic DNA into yeast genomic loci results in high default transcriptional activity in yeast but low activity in mouse, suggesting distinct default levels of genomic activity in these organisms.
- Brendan R. Camellato
- , Ran Brosh
- & Jef D. Boeke
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Article
| Open AccessThe hagfish genome and the evolution of vertebrates
A chromosome-scale genome assembly for the hagfish Eptatretus atami, combined with a series of phylogenetic analyses, sheds light on ancient polyploidization events that had a key role in the early evolution of vertebrates.
- Ferdinand Marlétaz
- , Nataliya Timoshevskaya
- & Daniel S. Rokhsar
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Article
| Open AccessElevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations
Analysis of a large ancient genome dataset shows that genetic risk for multiple sclerosis rose in steppe pastoralists, providing insight into how genetic ancestry from the Neolithic and Bronze Age has shaped modern immune responses.
- William Barrie
- , Yaoling Yang
- & Eske Willerslev
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Article
| Open AccessIdentification of constrained sequence elements across 239 primate genomes
Whole-genome alignment of 239 primate species reveals noncoding regulatory elements that are under selective constraint in primates but not in other placental mammals, that are enriched for variants that affect human gene expression and complex traits in diseases.
- Lukas F. K. Kuderna
- , Jacob C. Ulirsch
- & Kyle Kai-How Farh
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Assembly of 43 human Y chromosomes reveals extensive complexity and variation
De novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution reveal considerable diversity in the size and structure of the human Y chromosome.
- Pille Hallast
- , Peter Ebert
- & Charles Lee
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Article
| Open AccessLong-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers
Linked-read whole-genome sequencing reveals patterns of structural DNA variants that are specific to homologous recombination deficiency and can be used to distinguish between BRCA1- and BRCA2-deficient phenotypes.
- Jeremy Setton
- , Kevin Hadi
- & Marcin Imieliński
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Article
| Open AccessEinkorn genomics sheds light on history of the oldest domesticated wheat
Around 1% of the A subgenome of modern bread wheat (Triticum aestivum) originates from einkorn (Triticum monococcum), the first domesticated wheat species.
- Hanin Ibrahim Ahmed
- , Matthias Heuberger
- & Simon G. Krattinger
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Article
| Open AccessEvolution of a minimal cell
An engineered minimal cell evolves to escape the negative consequences of genome streamlining.
- R. Z. Moger-Reischer
- , J. I. Glass
- & J. T. Lennon
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Article
| Open AccessAncient gene linkages support ctenophores as sister to other animals
Deeply conserved syntenic characters unite sponges with bilaterians, cnidarians, and placozoans in a monophyletic clade to the exclusion of the comb jellies (ctenophores)—placing ctenophores as the sister group to all other animals.
- Darrin T. Schultz
- , Steven H. D. Haddock
- & Daniel S. Rokhsar
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Cycles of satellite and transposon evolution in Arabidopsis centromeres
Inter- and intra-species comparison of Arabidopsis centromere variation identifies rapid cycles of transposon invasion and purging through satellite homogenization that drive centromere evolution.
- Piotr Wlodzimierz
- , Fernando A. Rabanal
- & Ian R. Henderson
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Article
| Open AccessIncreased mutation and gene conversion within human segmental duplications
A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.
- Mitchell R. Vollger
- , Philip C. Dishuck
- & Evan E. Eichler
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Article
| Open AccessRecombination between heterologous human acrocentric chromosomes
Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.
- Andrea Guarracino
- , Silvia Buonaiuto
- & Erik Garrison
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Article
| Open AccessThe little skate genome and the evolutionary emergence of wing-like fins
Skate-specific changes in the epigenome and its three-dimensional organization contributed to the evolution of the batoid fin morphology.
- Ferdinand Marlétaz
- , Elisa de la Calle-Mustienes
- & José Luis Gómez-Skarmeta
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Article
| Open AccessThe giant diploid faba genome unlocks variation in a global protein crop
Using a high-quality chromosome-scale assembly of the faba bean genome, the genetic basis of seed size and hilum colour is explored.
- Murukarthick Jayakodi
- , Agnieszka A. Golicz
- & Stig Uggerhøj Andersen
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Matters Arising
| Open AccessThe case for standardizing gene nomenclature in vertebrates
- Fiona M. McCarthy
- , Tamsin E. M. Jones
- & Elspeth A. Bruford
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Article
| Open AccessDiverse mutational landscapes in human lymphocytes
Sequencing of individual human lymphocyte clones shows that they are highly prone to mutations, with higher burdens in memory cells than in naive cells arising from mutational processes associated with differentiation and tissue residency.
- Heather E. Machado
- , Emily Mitchell
- & Peter J. Campbell
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Article
| Open AccessIsland-specific evolution of a sex-primed autosome in a sexual planarian
Assembly and analysis of the Schmidtea mediterranea genome indicate that this planarian’s chromosome 1 may be evolving into a sex chromosome.
- Longhua Guo
- , Joshua S. Bloom
- & Leonid Kruglyak
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A natural mutator allele shapes mutation spectrum variation in mice
Natural variation in the mouse gene Mutyh influences the rate of C>A germline mutations.
- Thomas A. Sasani
- , David G. Ashbrook
- & Kelley Harris
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Article
| Open AccessA high-quality bonobo genome refines the analysis of hominid evolution
A high-quality bonobo genome assembly provides insights into incomplete lineage sorting in hominids and its relevance to gene evolution and the genetic relationship among living hominids.
- Yafei Mao
- , Claudia R. Catacchio
- & Evan E. Eichler
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Article
| Open AccessThe structure, function and evolution of a complete human chromosome 8
The complete assembly of human chromosome 8 resolves previous gaps and reveals hidden complex forms of genetic variation, enabling functional and evolutionary characterization of primate centromeres.
- Glennis A. Logsdon
- , Mitchell R. Vollger
- & Evan E. Eichler
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Breast tumours maintain a reservoir of subclonal diversity during expansion
Single-cell analysis of genomes from primary human breast tumours and cell lines shows that chromosomal aberrations continue to evolve during primary tumour expansion, resulting in a milieu of subclones within the tumour.
- Darlan C. Minussi
- , Michael D. Nicholson
- & Nicholas E. Navin
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Article
| Open AccessGenomic mechanisms of climate adaptation in polyploid bioenergy switchgrass
The genome of the biofuel crop switchgrass (Panicum virgatum) reveals climate–gene–biomass associations that underlie adaptation in nature and will facilitate improvements of the yield of this crop for bioenergy production.
- John T. Lovell
- , Alice H. MacQueen
- & Jeremy Schmutz
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Article
| Open AccessGiant lungfish genome elucidates the conquest of land by vertebrates
A chromosome-quality genome of the lungfish Neoceratodus fosteri sheds light on the development of obligate air-breathing and the gain of limb-like gene expression in lobed fins, providing insights into the water-to-land transition in vertebrate evolution.
- Axel Meyer
- , Siegfried Schloissnig
- & Manfred Schartl
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Article
| Open AccessThe tuatara genome reveals ancient features of amniote evolution
The approximately 5-Gb tuatara (Sphenodon punctatus) genome assembly provides a resource for analysing amniote evolution, and highlights the imperative for meaningful cultural engagement with Indigenous communities in genome-sequencing endeavours.
- Neil J. Gemmell
- , Kim Rutherford
- & Haydn Edmonds
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Multilayered mechanisms ensure that short chromosomes recombine in meiosis
Several mechanisms regulate the distribution of double-strand breaks during meiosis in Saccharomyces cerevisiae, ensuring that the shortest chromosomes are able to successfully recombine.
- Hajime Murakami
- , Isabel Lam
- & Scott Keeney
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Article
| Open AccessThe water lily genome and the early evolution of flowering plants
The genome of the tropical blue-petal water lily Nymphaea colorata and the transcriptomes from 19 other Nymphaeales species provide insights into the early evolution of angiosperms.
- Liangsheng Zhang
- , Fei Chen
- & Haibao Tang
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Article
| Open AccessGenome evolution across 1,011 Saccharomyces cerevisiae isolates
Whole-genome sequencing of 1,011 natural isolates of the yeast Saccharomyces cerevisiae reveals its evolutionary history, including a single out-of-China origin and multiple domestication events, and provides a framework for genotype–phenotype studies in this model organism.
- Jackson Peter
- , Matteo De Chiara
- & Joseph Schacherer
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Letter
| Open AccessGenome sequence of the progenitor of the wheat D genome Aegilops tauschii
A combination of advanced sequencing and mapping techniques is used to produce a reference genome of Aegilops tauschii, progenitor of the wheat D genome, providing a valuable resource for comparative genetic studies.
- Ming-Cheng Luo
- , Yong Q. Gu
- & Jan Dvořák
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Letter
| Open AccessThe sunflower genome provides insights into oil metabolism, flowering and Asterid evolution
A high-quality reference for the sunflower genome (Helianthus annuus L.) and analysis of gene networks involved in flowering time and oil metabolism provide a basis for nutritional exploitation and analyses of adaptation to climate change.
- Hélène Badouin
- , Jérôme Gouzy
- & Nicolas B. Langlade
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Letter
| Open AccessEvolutionary genomics of the cold-adapted diatom Fragilariopsis cylindrus
The genome of the Southern Ocean phytoplankton Fragilariopsis cylindrus differs markedly from the genomes of its more temperate relatives, with divergent alleles being differentially expressed in environmentally specific conditions such as freezing and darkness.
- Thomas Mock
- , Robert P. Otillar
- & Igor V. Grigoriev
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Article
| Open AccessGenome evolution in the allotetraploid frog Xenopus laevis
The two homoeologous subgenomes in the allotetraploid frog Xenopus laevis evolved asymmetrically; one often retained the ancestral state, whereas the other experienced gene loss, deletion, rearrangement and reduced gene expression.
- Adam M. Session
- , Yoshinobu Uno
- & Daniel S. Rokhsar
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Mechanism for DNA transposons to generate introns on genomic scales
The observations that introns are acquired in bursts and that exons are often nucleosome-sized can be explained by the generation of introns from DNA transposons, which insert between nucleosomes.
- Jason T. Huff
- , Daniel Zilberman
- & Scott W. Roy
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Genomic analyses inform on migration events during the peopling of Eurasia
Whole-genome sequencing of individuals from 125 populations provides insight into patterns of genetic diversity, natural selection and human demographic history during the peopling of Eurasia and finds evidence for genetic vestiges of an early expansion of modern humans out of Africa in Papuans.
- Luca Pagani
- , Daniel John Lawson
- & Mait Metspalu
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Letter |
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
Reconstruction of the evolutionary history of the chromosome 16p11.2 locus and identification of bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens.
- Xander Nuttle
- , Giuliana Giannuzzi
- & Evan E. Eichler
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Article
| Open AccessThe Atlantic salmon genome provides insights into rediploidization
The genome sequence is presented for the Atlantic salmon (Salmo salar), providing information about a rediploidization following a salmonid-specific whole-genome duplication event that resulted in an autotetraploidization.
- Sigbjørn Lien
- , Ben F. Koop
- & William S. Davidson
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Letter
| Open AccessSingle-molecule sequencing of the desiccation-tolerant grass Oropetium thomaeum
Oropetium thomaeum is a resurrection plant that can survive extreme water stress through desiccation to complete dryness, providing a model for drought tolerance; here, whole-genome sequencing and assembly of the Oropetium genome using single-molecule real-time sequencing is reported.
- Robert VanBuren
- , Doug Bryant
- & Todd C. Mockler
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Letter |
New genomic and fossil data illuminate the origin of enamel
Enamel is a tissue unique to vertebrates, and nowadays associated with teeth; here, histological material from a fossil bony fish and genomic data from an extant, armour-plated fish are analysed to show that enamel originated on the body surface and only later colonized the teeth.
- Qingming Qu
- , Tatjana Haitina
- & Per Erik Ahlberg
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Endosymbiotic origin and differential loss of eukaryotic genes
Eukaryotes acquired their prokaryotic genes in two episodes of evolutionary influx corresponding to the origin of mitochondria and plastids, respectively, followed by extensive differential gene loss, uncovering a massive imprint of endosymbiosis in the nuclear genomes of complex cells.
- Chuan Ku
- , Shijulal Nelson-Sathi
- & William F. Martin
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Quantitative evolutionary dynamics using high-resolution lineage tracking
Random DNA barcodes were used to simultaneously track hundreds of thousands of lineages in large cell populations, revealing deterministic dynamics early in their evolution.
- Sasha F. Levy
- , Jamie R. Blundell
- & Gavin Sherlock
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Article
| Open AccessThe genomic substrate for adaptive radiation in African cichlid fish
Genomes and transcriptomes of five distinct lineages of African cichlids, a textbook example of adaptive radiation, have been sequenced and analysed to reveal that many types of molecular changes contributed to rapid evolution, and that standing variation accumulated during periods of relaxed selection may have primed subsequent diversification.
- David Brawand
- , Catherine E. Wagner
- & Federica Di Palma
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Comparative population genomics in animals uncovers the determinants of genetic diversity
Genome-wide DNA polymorphism analysis across 76 animal species reveals a strong effect of ecological strategies, and particularly parental investment, on species levels of genetic diversity.
- J. Romiguier
- , P. Gayral
- & N. Galtier
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Article
| Open AccessThe genome of Eucalyptus grandis
The Eucalyptus grandis genome has been sequenced, revealing the greatest number of tandem duplications of any plant genome sequenced so far, and the highest diversity of genes for specialized metabolites that act as chemical defence and provide unique pharmaceutical oils; genome sequencing of the sister species E. globulus and a set of inbred E. grandis tree genomes reveals dynamic genome evolution and hotspots of inbreeding depression.
- Alexander A. Myburg
- , Dario Grattapaglia
- & Jeremy Schmutz
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Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators
A study comparing the Y chromosome across mammalian species reveals that selection to maintain the ancestral dosage of homologous X–Y gene pairs preserved a handful of genes on the Y chromosome while the rest were lost; the survival of broadly expressed dosage-sensitive regulators of gene expression suggest that the human Y chromosome is essential for male viability.
- Daniel W. Bellott
- , Jennifer F. Hughes
- & David C. Page
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A predictive fitness model for influenza
A computational approach for predicting the future evolution of the human influenza virus, based on population-genetic data of previous strains, is presented; this model holds promise for improving vaccine strain selection for seasonal influenza.
- Marta Łuksza
- & Michael Lässig
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Letter
| Open AccessGenomic evidence for ameiotic evolution in the bdelloid rotifer Adineta vaga
The genome of the asexual rotifer Adineta vaga lacks homologous chromosomes; instead, its allelic regions are rearranged and sometimes found on the same chromosome in a palindromic fashion, a structure reminiscent of the primate Y chromosome and of other mitotic lineages such as cancer cells.
- Jean-François Flot
- , Boris Hespeels
- & Karine Van Doninck
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Article
| Open AccessThe African coelacanth genome provides insights into tetrapod evolution
Genome sequencing and phylogenomic analysis show that the lungfish, not the coelacanth, is the closest living relative of tetrapods, that coelacanth protein-coding genes are more slowly evolving than those of tetrapods and lungfish, and that the genes and regulatory elements that underwent changes during the vertebrate transition to land reflect adaptation to a new environment.
- Chris T. Amemiya
- , Jessica Alföldi
- & Kerstin Lindblad-Toh