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Article
| 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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Article
| Open AccessOn the genetic basis of tail-loss evolution in humans and apes
An insertion of an Alu element into an intron of the TBXT gene is identified as a genetic mechanism of tail-loss evolution in humans and apes, with implications for human health today.
- Bo Xia
- , Weimin Zhang
- & Itai Yanai
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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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Article
| Open AccessEarly contact between late farming and pastoralist societies in southeastern Europe
Archaeogenetic analysis of 135 individuals from the zone between southeastern Europe and the northwestern Black Sea region indicates contacts between farming and pastoralist populations at the end of the Copper Age.
- Sandra Penske
- , Adam B. Rohrlach
- & Wolfgang Haak
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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 AccessSomatic mutation rates scale with lifespan across mammals
Whole-genome sequencing is used to analyse the landscape of somatic mutation in intestinal crypts from 16 mammalian species, revealing that rates of somatic mutation inversely scale with the lifespan of the animal across species.
- Alex Cagan
- , Adrian Baez-Ortega
- & Iñigo Martincorena
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Article
| Open AccessUniversal nomenclature for oxytocin–vasotocin ligand and receptor families
A revised, universal nomenclature for the vertebrate genes that encode the oxytocin and vasopressin–vasotocin ligands and receptors will improve our understanding of gene evolution and facilitate the translation of findings across species.
- Constantina Theofanopoulou
- , Gregory Gedman
- & Erich D. Jarvis
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Article
| Open AccessPlatypus and echidna genomes reveal mammalian biology and evolution
New reference genomes of the two extant monotreme lineages (platypus and echidna) reveal the ancestral and lineage-specific genomic changes that shape both monotreme and mammalian evolution.
- Yang Zhou
- , Linda Shearwin-Whyatt
- & Guojie Zhang
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Article
| Open AccessMultiple wheat genomes reveal global variation in modern breeding
Comparison of multiple genome assemblies from wheat reveals extensive diversity that results from the complex breeding history of wheat and provides a basis for further potential improvements to this important food crop.
- Sean Walkowiak
- , Liangliang Gao
- & Curtis J. Pozniak
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Article |
Dense sampling of bird diversity increases power of comparative genomics
A dataset of the genomes of 363 species from the Bird 10,000 Genomes Project shows increased power to detect shared and lineage-specific variation, demonstrating the importance of phylogenetically diverse taxon sampling in whole-genome sequencing.
- Shaohong Feng
- , Josefin Stiller
- & Guojie Zhang
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Article
| Open AccessProgressive Cactus is a multiple-genome aligner for the thousand-genome era
The Progressive Cactus program can create reference-free alignments of hundreds of large vertebrate genomes efficiently, and is used for the alignment of more than 600 amniote genomes.
- Joel Armstrong
- , Glenn Hickey
- & Benedict Paten
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Analysis
| Open AccessA comparative genomics multitool for scientific discovery and conservation
A whole-genome alignment of 240 phylogenetically diverse species of eutherian mammal—including 131 previously uncharacterized species—from the Zoonomia Project provides data that support biological discovery, medical research and conservation.
- Diane P. Genereux
- , Aitor Serres
- & Elinor K. Karlsson
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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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Article |
Developmental dynamics of lncRNAs across mammalian organs and species
A transcriptome dataset from seven organs and seven mammalian species throughout development is used to analyse the expression of long noncoding RNAs in tissues within and between species, and at different stages of organ development.
- Ioannis Sarropoulos
- , Ray Marin
- & Henrik Kaessmann
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Article
| Open AccessThe axolotl genome and the evolution of key tissue formation regulators
Sequencing and assembly of the 32-Gb genome of the Mexican axolotl reveals that it lacks the developmental gene Pax3, which is essential in other vertebrates; the genome sequence could improve our understanding of the evolution of the axolotl’s remarkable regenerative capabilities.
- Sergej Nowoshilow
- , Siegfried Schloissnig
- & Eugene W. Myers
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Letter |
RNA targeting with CRISPR–Cas13
The class 2 type VI RNA-guided RNA-targeting CRISPR–Cas effector Cas13 can be engineered for RNA knockdown and binding, expanding the CRISPR toolset with a flexible platform for studying RNA in mammalian cells and therapeutic development.
- Omar O. Abudayyeh
- , Jonathan S. Gootenberg
- & Feng Zhang
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Letter
| Open AccessSequencing and de novo assembly of 150 genomes from Denmark as a population reference
A report of high-depth, short-read sequencing and de novo assemblies for 150 individuals from 50 parent–offspring trios as part of establishing a population reference genome for the GenomeDenmark project.
- Lasse Maretty
- , Jacob Malte Jensen
- & Mikkel Heide Schierup
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Letter
| Open AccessPlasmodium malariae and P. ovale genomes provide insights into malaria parasite evolution
The genome sequences of the neglected human-infective malaria species Plasmodium malariae and P. ovale provide new insights into their biology that are pertinent to understanding their epidemiology and to the broader agenda of malaria elimination.
- Gavin G. Rutledge
- , Ulrike Böhme
- & Thomas D. Otto
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Article
| Open AccessHemichordate genomes and deuterostome origins
Sequencing the genomes of two enteropneusts reveals complex genomic organization and developmental innovation in the ancestor of deuterostomes, a group of animals including echinoderms (starfish and their relatives) and chordates (which includes humans).
- Oleg Simakov
- , Takeshi Kawashima
- & John Gerhart
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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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Brief Communications Arising |
STAP cells are derived from ES cells
- Daijiro Konno
- , Takeya Kasukawa
- & Fumio Matsuzaki
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Letter |
Resolving the complexity of the human genome using single-molecule sequencing
Single-molecule, real-time DNA sequencing is used to analyse a haploid human genome (CHM1), thus closing or extending more than half of the remaining 164 euchromatic gaps in the human genome; the complete sequences of euchromatic structural variants (including inversions, complex insertions and tandem repeats) are resolved at the base-pair level, suggesting that a greater complexity of the human genome can now be accessed.
- Mark J. P. Chaisson
- , John Huddleston
- & Evan E. Eichler
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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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Letter
| Open AccessComparative analysis of the transcriptome across distant species
Uniform processing and detailed annotation of human, worm and fly RNA-sequencing data reveal ancient, conserved features of the transcriptome, shared co-expression modules (many enriched in developmental genes), matched expression patterns across development and similar extent of non-canonical, non-coding transcription; furthermore, the data are used to create a single, universal model to predict gene-expression levels for all three organisms from chromatin features at the promoter.
- Mark B. Gerstein
- , Joel Rozowsky
- & Robert Waterston
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Letter
| Open AccessComparative analysis of regulatory information and circuits across distant species
A map of genome-wide binding locations of 165 human, 93 worm and 52 fly transcription-regulatory factors (almost 50% presented for the first time) from diverse cell types, developmental stages, or conditions reveals that gene-regulatory properties previously observed for individual factors may be general principles of metazoan regulation that are well preserved.
- Alan P. Boyle
- , Carlos L. Araya
- & Michael Snyder
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Outlook |
Comparative biology: Naked ambition
A subterranean species that seems to be cancer-proof is providing promising clues on how we might prevent the disease in humans.
- Sarah Deweerdt
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Article
| Open AccessThe ctenophore genome and the evolutionary origins of neural systems
The draft genome of the ctenophore Pleurobrachia bachei (Pacific sea gooseberry) is presented, together with ten other ctenophore transcriptomes — these genomes have a very different neurogenic, immune and developmental gene content when compared with other animal genomes, and it is proposed that ctenophore neural systems, and possibly muscle specification, evolved independently from those in other animals.
- Leonid L. Moroz
- , Kevin M. Kocot
- & Andrea B. Kohn
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Article |
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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Letter |
doublesex is a mimicry supergene
The phenomenon of sex-limited mimicry is phylogenetically widespread in the swallowtail butterfly genus Papilio — now, a single gene, doublesex, is shown to control supergene mimicry, a finding that is in contrast to the long-held view that supergenes are likely to be controlled by a tightly linked cluster of loci.
- K. Kunte
- , W. Zhang
- & M. R. Kronforst
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Article
| Open AccessElephant shark genome provides unique insights into gnathostome evolution
Whole-genome analysis of the elephant shark, a cartilaginous fish, shows that it is the slowest evolving of all known vertebrates, lacks critical bone formation genes and has an unusual adaptive immune system.
- Byrappa Venkatesh
- , Alison P. Lee
- & Wesley C. Warren
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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
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Letter
| Open AccessThe zebrafish reference genome sequence and its relationship to the human genome
A high-quality sequence assembly of the zebrafish genome reveals the largest gene set of any vertebrate and provides information on key genomic features, and comparison to the human reference genome shows that approximately 70% of human protein-coding genes have at least one clear zebrafish orthologue.
- Kerstin Howe
- , Matthew D. Clark
- & Derek L. Stemple
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Letter |
Identification of small RNA pathway genes using patterns of phylogenetic conservation and divergence
To identify comprehensively factors involved in RNAi and microRNA-mediated gene expression regulation, this study performed a phylogenetic analysis of 86 eukaryotic species; the candidates this approach highlighted were subjected to Bayesian analysis with transcriptional and proteomic interaction data, identifying protein orthologues of already known RNAi silencing factors, as well as other hits involved in splicing, suggesting a connection between the two processes.
- Yuval Tabach
- , Allison C. Billi
- & Gary Ruvkun
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Article
| Open AccessAlgal genomes reveal evolutionary mosaicism and the fate of nucleomorphs
Sequencing the nuclear genomes of Guillardia theta and Bigelowiella natans, transitional forms in the endosymbiotic acquisition of photosynthesis by engulfment of certain eukaryotic algae, reveals unprecedented alternative splicing for a single-celled organism (B. natans) and extensive genetic and biochemical mosaicism, shedding light on why nucleomorphs persist in these species but not other algae.
- Bruce A. Curtis
- , Goro Tanifuji
- & John M. Archibald
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Letter
| Open AccessThe bonobo genome compared with the chimpanzee and human genomes
Sequencing of the bonobo genome shows that more than three per cent of the human genome is more closely related to either the bonobo genome or the chimpanzee genome than those genomes are to each other.
- Kay Prüfer
- , Kasper Munch
- & Svante Pääbo
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Letter
| Open AccessButterfly genome reveals promiscuous exchange of mimicry adaptations among species
Sequencing of the genome of the butterfly Heliconius melpomene shows that closely related Heliconius species exchange protective colour-pattern genes promiscuously.
- Kanchon K. Dasmahapatra
- , James R. Walters
- & Chris D. Jiggins
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News & Views |
Endless variation most beautiful
The genetic basis of traits can be understood by comparing the DNA of varieties of the same species. The genomes of many varieties of a model plant organism have now been sequenced, and the results are revelatory. See Article p.419
- Michael Bevan
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Letter
| Open AccessThe genome of the green anole lizard and a comparative analysis with birds and mammals
- Jessica Alföldi
- , Federica Di Palma
- & Kerstin Lindblad-Toh
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Letter
| Open AccessComparative and demographic analysis of orang-utan genomes
The genome of the southeast Asian orang-utan has been sequenced. The draft assembly of a Sumatran individual alongside sequence data from five Sumatran and five Bornean orang-utan genomes is presented. The resources and analyses described offer new opportunities in evolutionary genomics, insights into hominid biology, and an extensive database of variation for conservation efforts.
- Devin P. Locke
- , LaDeana W. Hillier
- & Richard K. Wilson
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News & Views |
Shadows of early migrations
Analysis of ancient nuclear DNA, recovered from 40,000-year-old remains in the Denisova Cave, Siberia, hints at the multifaceted interaction of human populations following their migration out of Africa. See Article p.1053
- Carlos D. Bustamante
- & Brenna M. Henn
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News |
Fossil genome reveals ancestral link
A distant cousin raises questions about human origins.
- Ewen Callaway
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Article
| Open AccessGenetic history of an archaic hominin group from Denisova Cave in Siberia
Using DNA from a finger bone, the genome of an archaic hominin from southern Siberia has been sequenced to about 1.9-fold coverage. The group to which this individual belonged shares a common origin with Neanderthals, and although it was not involved in the putative gene flow from Neanderthals into Eurasians, it contributed 4–6% of its genetic material to the genomes of present-day Melanesians. A tooth whose mitochondrial genome is very similar to that of the finger bone further suggests that these hominins are evolutionarily distinct from Neanderthals and modern humans.
- David Reich
- , Richard E. Green
- & Svante Pääbo
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News & Views |
Genomic hourglass
Comparative genomics studies reveal molecular signatures of the controversial 'phylotypic' stage — a time when embryos of members of an animal phylum all look more alike than at other embryonic stages. See Letters p.811 & p.815
- Benjamin Prud'homme
- & Nicolas Gompel
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News |
Ancient DNA set to rewrite human history
Discovery that some humans are part-Neanderthal reveals the promise of comparing genomes old and new.
- Rex Dalton
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News |
Frogs and humans are kissing cousins
Gene order of Xenopus tropicalis shows surprising similarity to that of mammals.
- Alla Katsnelson
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News |
Fossil finger points to new human species
DNA analysis reveals lost relative from 40,000 years ago.
- Rex Dalton
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Article
| Open AccessComparative genomics reveals mobile pathogenicity chromosomes in Fusarium
Fungi from the genus Fusarium are important pathogens of animals and crop plants. Some have a wide host range, whereas others are more specific in the organisms they infect. Here, clues are provided as to how differences in specificity come about. The genomes of two Fusarium fungi with differing host ranges have been sequenced, and compared with the genome of a third species. Experiments show that transferring two whole chromosomes turns a non-pathogenic Fusarium strain into a pathogenic one.
- Li-Jun Ma
- , H. Charlotte van der Does
- & Martijn Rep
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Article |
Genome sequencing and analysis of the model grass Brachypodium distachyon
The genome of the wild grass Brachypodium distachyon (Brachypodium), a member of the Pooideae subfamily, is sequenced. The Pooideae are one of three subfamilies of grasses that provide the bulk of human nutrition and may become major sources of renewable energy. Availability of the genome sequence should help establish Brachypodium as a model for developing new energy and food crops.
- John P. Vogel
- , David F. Garvin
- & Ivan Baxter