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| Open AccessHybrid speciation driven by multilocus introgression of ecological traits
Genomic studies of Heliconius butterflies provide evidence that Heliconius elevatus is a hybrid species, and that its speciation was driven by introgression of traits from Heliconius melpomene into the other parent, an ancestor of Heliconius pardalinus.
- Neil Rosser
- , Fernando Seixas
- & Kanchon K. Dasmahapatra
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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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Deep whole-genome analysis of 494 hepatocellular carcinomas
The Chinese Liver Cancer Atlas project depicts a panoramic genomic landscape of hepatocellular carcinoma, covering candidate coding and non-coding drivers, mutational signatures, extrachromosomal circular DNA, subclonal catastrophic events and detailed evolutionary history.
- Lei Chen
- , Chong Zhang
- & Hongyang Wang
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Article
| Open AccessRedefining the treponemal history through pre-Columbian genomes from Brazil
Reconstruction of four Treponema pallidum genomes associated with human remains from around 2,000 years ago suggests that T. pallidum existed in the Americas and diverged to its modern subspecies before the fifteenth century European contact with the Americas.
- Kerttu Majander
- , Marta Pla-Díaz
- & Verena J. Schuenemann
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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 AccessA lethal mitonuclear incompatibility in complex I of natural hybrids
Analysis of naturally hybridizing swordtail fish species reveals a mitonuclear genetic incompatibility among three genes that encode components of mitochondrial respiratory complex I, providing insights into the emergence of hybrid incompatibilities and reproductive barriers.
- Benjamin M. Moran
- , Cheyenne Y. Payne
- & Molly Schumer
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Article
| Open AccessThe selection landscape and genetic legacy of ancient Eurasians
Analyses of imputed ancient genomes and of samples from the UK Biobank indicate that ancient selection and migration were large contributors to the distribution of phenotypic diversity in present-day Europeans.
- Evan K. Irving-Pease
- , Alba Refoyo-Martínez
- & Eske Willerslev
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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 AccessConserved and divergent gene regulatory programs of the mammalian neocortex
A single-cell multiomics analysis of over 200,000 cells of the primary motor cortex of human, macaque, marmoset and mouse shows that divergence of transcription factor expression corresponds to species-specific epigenome landscapes, and conserved and divergent gene regulatory features are reflected in the evolution of the three-dimensional genome.
- Nathan R. Zemke
- , Ethan J. Armand
- & Bing Ren
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Article
| Open AccessIndigenous Australian genomes show deep structure and rich novel variation
Analysis of the genomes of 159 individuals from four Indigenous communities in Australia shows a high level of genetic variation and demonstrates the need for greater representation of Indigenous Australians in reference panels and clinical databases.
- Matthew Silcocks
- , Ashley Farlow
- & Stephen Leslie
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A genomic mutational constraint map using variation in 76,156 human genomes
A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.
- Siwei Chen
- , Laurent C. Francioli
- & Konrad J. Karczewski
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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 AccessThe genetic legacy of the expansion of Bantu-speaking peoples in Africa
We gathered genetic data for 1,763 individuals from 147 populations across 14 African countries, and 12 Late Iron Age individuals, to trace the expansion of Bantu-speaking peoples over the past 6,000 years.
- Cesar A. Fortes-Lima
- , Concetta Burgarella
- & Carina M. Schlebusch
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Genetic continuity and change among the Indigenous peoples of California
Genome-wide analyses of ancient DNA from individuals from California and Mexico shed light on the spread of Mexican ancestry to California and how it correlates with linguistic flow.
- Nathan Nakatsuka
- , Brian Holguin
- & David Reich
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Article
| Open AccessGenotyping, sequencing and analysis of 140,000 adults from Mexico City
Genotype and exome sequencing of 150,000 participants and whole-genome sequencing of 9,950 selected individuals recruited into the Mexico City Prospective Study constitute a valuable, publicly available resource of non-European sequencing data.
- Andrey Ziyatdinov
- , Jason Torres
- & Roberto Tapia-Conyer
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Article
| Open AccessMexican Biobank advances population and medical genomics of diverse ancestries
Nationwide genomic biobank in Mexico unravels demographic history and complex trait architecture from 6,057 individuals.
- Mashaal Sohail
- , María J. Palma-Martínez
- & Andrés Moreno-Estrada
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Article
| Open AccessDissecting human population variation in single-cell responses to SARS-CoV-2
Population differences in immune responses to SARS-CoV-2 can be explained by environmental exposures, but also by local adaptation acting through genetic variants acquired after admixture with archaic hominin forms.
- Yann Aquino
- , Aurélie Bisiaux
- & Lluis Quintana-Murci
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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 AccessEvolutionary histories of breast cancer and related clones
By using phylogenetic analyses of multiple microdissected samples from both cancer and non-cancer lesions, unique evolutionary histories of breast cancers harbouring a common driver alteration are shown, providing new insight into how breast cancer evolves.
- Tomomi Nishimura
- , Nobuyuki Kakiuchi
- & Seishi Ogawa
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Article
| Open AccessExtensive pedigrees reveal the social organization of a Neolithic community
The burial community at Gurgy ‘les Noisats’ (France) was genetically connected by two main pedigrees, spanning seven generations, that were patrilocal and patrilineal, with evidence for female exogamy and exchange with genetically close neighbouring groups.
- Maïté Rivollat
- , Adam Benjamin Rohrlach
- & Wolfgang Haak
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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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Cancer aneuploidies are shaped primarily by effects on tumour fitness
A study reports the development of an algorithm, BISCUT, that detects genomic loci under selective pressure by relying on the distribution of breakpoints across chromosome arms, and uses it to explore how aneuploidies affect tumorigenesis.
- Juliann Shih
- , Shahab Sarmashghi
- & Rameen Beroukhim
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Article
| Open AccessA pangenome reference of 36 Chinese populations
A study reports data from the first phase of the Chinese Pangenome Consortium including 116 de novo assemblies from 58 core samples representing 36 minority Chinese ethnic groups.
- Yang Gao
- , Xiaofei Yang
- & Shuhua Xu
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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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A weakly structured stem for human origins in Africa
An analysis of models of human populations in Africa, using some newly sequenced genomes, finds that human origins in the continent can best be described by a weakly structured stem model.
- Aaron P. Ragsdale
- , Timothy D. Weaver
- & Simon Gravel
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Article |
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 AccessAncient human DNA recovered from a Palaeolithic pendant
A non-destructive DNA isolation method for the stepwise release of DNA trapped in ancient tooth and bone artefacts is developed.
- Elena Essel
- , Elena I. Zavala
- & Matthias Meyer
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Article
| Open AccessMirusviruses link herpesviruses to giant viruses
A phylogeny-guided genome-resolved metagenomic analysis of DNA viruses in the ocean reveals atypical plankton-infecting relatives of herpesviruses that form a putative new phylum dubbed Mirusviricota.
- Morgan Gaïa
- , Lingjie Meng
- & Tom O. Delmont
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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 evolution of non-small cell lung cancer metastases in TRACERx
A longitudinal evolutionary analysis of 126 lung cancer patients with metastatic disease reveals the timing of metastatic divergence, modes of dissemination and the genomic events subject to selection during the metastatic transition.
- Maise Al Bakir
- , Ariana Huebner
- & Charles Swanton
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Article
| Open AccessEntwined African and Asian genetic roots of medieval peoples of the Swahili coast
Analysis of ancient human DNA from the Swahili coast reveals that predominantly African female ancestors and Asian male ancestors formed families after around ad 1000 and lived in elite communities in coastal stone towns.
- Esther S. Brielle
- , Jeffrey Fleisher
- & Chapurukha M. Kusimba
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Article
| Open AccessPalaeogenomics of Upper Palaeolithic to Neolithic European hunter-gatherers
Combined analysis of new genomic data from 116 ancient hunter-gatherer individuals together with previously published data provides insights into the genetic structure and demographic shifts of west Eurasian forager populations over a period of 30,000 years.
- Cosimo Posth
- , He Yu
- & Johannes Krause
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Article
| Open AccessEvolution of the germline mutation rate across vertebrates
Using sequencing and comparing high-coverage genomes, the germline mutation rates across vertebrates are quantified.
- Lucie A. Bergeron
- , Søren Besenbacher
- & Guojie Zhang
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Matters Arising
| Open AccessReply to: The case for standardizing gene nomenclature in vertebrates
- Constantina Theofanopoulou
- & Erich D. Jarvis
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Article
| Open AccessThe molecular evolution of spermatogenesis across mammals
Evolutionary analyses of single-nucleus transcriptome data for testes from 11 species are reported, illuminating the molecular evolution of spermatogenesis and associated forces, and providing a resource for investigating the testis across mammals.
- Florent Murat
- , Noe Mbengue
- & Henrik Kaessmann
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Article
| Open AccessPhenotypic plasticity and genetic control in colorectal cancer evolution
Intratumour genetic ancestry only infrequently affects gene expression traits and subclonal evolution in colorectal cancer, with most genetic intratumour variation having no detected phenotypic consequence and transcriptional plasticity being widespread within a tumour.
- Jacob Househam
- , Timon Heide
- & Trevor A. Graham
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Evolution of immune genes is associated with the Black Death
Klunk and colleagues identify signatures of natural selection imposed by Yersinia pestis and demonstrate their effect on genetic diversity and susceptibility to certain diseases in the present day.
- Jennifer Klunk
- , Tauras P. Vilgalys
- & Luis B. Barreiro
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Article
| Open AccessGenetic insights into the social organization of Neanderthals
Genetic data for 13 Neanderthals from 2 Middle Palaeolithic sites in the Altai Mountains of southern Siberia presented provide insights into the social organization of an isolated Neanderthal community at the easternmost extent of their known range.
- Laurits Skov
- , Stéphane Peyrégne
- & Benjamin M. Peter
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| Open AccessThe Anglo-Saxon migration and the formation of the early English gene pool
Archaeogenetic study of ancient DNA from medieval northwestern Europeans reveals substantial increase of continental northern European ancestry in Britain, suggesting mass migration across the North Sea during the Early Middle Ages.
- Joscha Gretzinger
- , Duncan Sayer
- & Stephan Schiffels
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Article
| Open AccessGrey wolf genomic history reveals a dual ancestry of dogs
DNA from ancient wolves spanning 100,000 years sheds light on wolves’ evolutionary history and the genomic origin of dogs.
- Anders Bergström
- , David W. G. Stanton
- & Pontus Skoglund
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Article
| Open AccessThe source of the Black Death in fourteenth-century central Eurasia
- Maria A. Spyrou
- , Lyazzat Musralina
- & Johannes Krause
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Article
| Open AccessGenome evolution and diversity of wild and cultivated potatoes
High-quality diploid assemblies of potato genomes from 24 wild and 20 cultivated potatoes provide insights into the complex evolution and diversity of potatoes, and could have applications in the breeding of hybrid potatoes.
- Dié Tang
- , Yuxin Jia
- & Sanwen Huang
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Synonymous mutations in representative yeast genes are mostly strongly non-neutral
A survey of 8,341 mutations in 21 yeast genes shows that synonymous mutations are nearly as harmful as nonsynonymous mutations, in part because they both affect the mRNA level of the gene mutated.
- Xukang Shen
- , Siliang Song
- & Jianzhi Zhang
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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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Article
| Open AccessThe mosaic oat genome gives insights into a uniquely healthy cereal crop
Assembly of the hexaploid oat genome and its diploid and tetraploid relatives clarifies the evolutionary history of oat and allows mapping of genes for agronomic traits.
- Nadia Kamal
- , Nikos Tsardakas Renhuldt
- & Nick Sirijovski
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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 AccessMalaria protection due to sickle haemoglobin depends on parasite genotype
A strong association has been found between three regions of the Plasmodium falciparum genome and sickle haemoglobin in children with severe malaria, suggesting parasites have adapted to overcome natural host immunity.
- Gavin Band
- , Ellen M. Leffler
- & Dominic P. Kwiatkowski