Featured
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Research Briefing |
Yeast genomes show how large genomic variations affect trait diversity
Almost-complete genomes of more than 1,000 strains of the single-celled yeast species Saccharomyces cerevisiae have been assembled and integrated with phenotypic (trait) measures of growth and of RNA and protein expression. The analysis shows how large genomic variations called structural variants disproportionately shape traits.
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Article
| Open AccessPopulation-specific polygenic risk scores for people of Han Chinese ancestry
The Taiwan Precision Medicine Initiative recruited and genotyped more than half a million Taiwanese participants, almost all of Han Chinese ancestry, and performed comprehensive genomic analyses and developed polygenic risk score prediction models for numerous health conditions.
- Hung-Hsin Chen
- , Chien-Hsiun Chen
- & Cathy S. J. Fann
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Article
| Open AccessFrom genotype to phenotype with 1,086 near telomere-to-telomere yeast genomes
A newly compiled atlas of species-wide structural variants and gene-based and graph pangenomes derived from highly complete assemblies of genomes from 1,086 natural isolates enable integrative genome-scale studies of Saccharomyces cerevisiae.
- Victor Loegler
- , Pia Thiele
- & Joseph Schacherer
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Article |
A conserved H3K14ub-driven H3K9me3 for chromatin compartmentalization
G2E3-catalysed H3K14 mono-ubiquitination is crucial for SUV39H compartmentalization and H3K9 trimethylation in pericentromeric heterochromatin, which is essential for proper euchromatin organization and transcriptional regulation in mammalian cells.
- Yuanyong Huang
- , Yimei Sun
- & Jiemin Wong
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Article |
The evolution of facultative symbiosis in stony corals
Genomic sequencing of the thermotolerant coral species Oculina patagonica, single-cell transcriptomic analyses of symbiotic and non-symbiotic specimens and comparisons with obligate symbiotic coral species reveal adaptations that provide resilience to coral bleaching.
- Shani Levy
- , Xavier Grau-Bové
- & Arnau Sebé-Pedrós
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News Feature |
Faulty mitochondria cause deadly diseases: fixing them is about to get a lot easier
CRISPR-based tools can’t easily access the DNA in these organelles, but researchers are finding other ways in.
- Gemma Conroy
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News |
Should genetically modified wildlife be banned? Scientists weigh the risks
Conservationists debate the pros and cons of using synthetic-biology techniques to alter wild species.
- Mariana Lenharo
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News |
First proposed blood test for chronic fatigue syndrome: what scientists think
A blood test has achieved 96% accuracy in diagnosing the condition in a small study of individuals. What does the test detect, and is it a biomarker of the condition?
- David Adam
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Research Briefing |
Tracing the ancestry of barley in time and space
The genetic ancestry of domesticated barley has been mapped at high resolution, with each genome segment traced to its wild origins and the date estimated for when it entered the domesticated lineage. The findings reveal a mosaic of contributions from across western and central Asia, shaped by early cultivation and later gene flow.
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Article |
Hotspots of human mutation point to clonal expansions in spermatogonia
A systematic statistical genetics approach discovers CES drivers as hotspots of human de novo mutation and shows that clonal expansions in germline may both modulate the prevalence of disorders and lead to false-positive disease associations.
- Vladimir Seplyarskiy
- , Mikhail A. Moldovan
- & Shamil Sunyaev
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Article
| Open AccessSperm sequencing reveals extensive positive selection in the male germline
A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.
- Matthew D. C. Neville
- , Andrew R. J. Lawson
- & Raheleh Rahbari
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News & Views |
Ultra-sensitive DNA sequencing maps mutations that precede cancer
Scientists have used low-error genome-sequencing methods in normal tissues from large cohorts of individuals to scan for mutations that set the stage for cancer.
- Jian Carrot-Zhang
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Article
| Open AccessSomatic mutation and selection at population scale
A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.
- Andrew R. J. Lawson
- , Federico Abascal
- & Iñigo Martincorena
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Career Feature |
Memorable, distinctive, not too ‘sciencey’: why we named our biotech firm Anocca
Chief executive Reagan Jarvis describes the role a branding agency had in naming his technology company.
- Jacqui Thornton
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Career News |
Model organism databases face budget cuts and closures
Beyond the crucial data they contain, these digital archives have provided an important space for academic communities to exchange ideas and resources.
- Amanda Heidt
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News & Views |
Early- and late-diagnosed autism are genetically distinct
Analyses of symptoms and genomic data indicate that autism that manifests in early childhood is distinct from autism that is diagnosed later in development.
- Elliot M. Tucker-Drob
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News |
Features of autism can affect age of diagnosis — and so can genes
The age at which a person is diagnosed with autism can be partly explained by genetic factors.
- Heidi Ledford
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Article
| Open AccessPolygenic and developmental profiles of autism differ by age at diagnosis
A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.
- Xinhe Zhang
- , Jakob Grove
- & Varun Warrier
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Article
| Open AccessA human-specific regulatory mechanism revealed in a pre-implantation model
Genetic manipulation of blastoids reveals the role of recently emerged transposable elements and genes in human development.
- Raquel Fueyo
- , Sicong Wang
- & Joanna Wysocka
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Nature Podcast |
Audio long read: Autism is on the rise — what’s really behind the increase?
Claims about what is responsible are ignoring answers from decades of research, scientists say.
- Helen Pearson
- & Benjamin Thompson
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News |
Mitochondria expel tainted DNA — spurring age-related inflammation
Organelles spit out DNA contaminated with damaging components, leading to the activation of inflammatory enzymes, mouse experiments show.
- Gemma Conroy
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News |
US serial killer case opens door to using cutting-edge DNA data in courts
New York trial could set a legal precedent by admitting findings from whole-genome sequencing as evidence.
- Katherine Bourzac
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News |
Huntington’s disease treated for first time using gene therapy
Preliminary results from a small trial offer the clearest evidence yet that the brain disease’s progression can be slowed.
- Elie Dolgin
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Research Briefing |
A common chromosome fusion in humans explained
A condition known as Robertsonian translocation occurs when the long arms of two chromosomes join together. The characterization of the fully sequenced and assembled fused chromosomes reveals a common fusion site and how these chromosomes are stably transmitted from cell to cell and passed on from parent to child.
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Perspective |
The Biodiversity Cell Atlas: mapping the tree of life at cellular resolution
The Biodiversity Cell Atlas aims to create comprehensive single-cell molecular atlases across the eukaryotic tree of life, which will be phylogenetically informed, rely on high-quality genomes and use shared standards to facilitate comparisons across species.
- Arnau Sebé-Pedrós
- , Amos Tanay
- & Bo Wang
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Research Briefing |
Engineered enzymes can suppress genome-editing errors
Genome editors are molecular machines that can rewrite the genetic code in cells, but sometimes they produce errors in the form of unintended sequence insertions or deletions, collectively known as indel errors. Genome editors have now been engineered that make up to 60-fold fewer indel errors than previous ones did.
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News |
She lived to 117: what her genes and lifestyle tell us about longevity
Maria Branyas Morera was the oldest person in the world when she died. Scientists analysed her genes, metabolism and more.
- Mariana Lenharo
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Article
| Open AccessThe formation and propagation of human Robertsonian chromosomes
Analysis of human Robertsonian chromosomes originating from 13, 14 and 21 reveal that they result from breaks at the SST1 macrosatellite DNA array and recombination between homologous sequences surrounding SST1.
- Leonardo Gomes de Lima
- , Andrea Guarracino
- & Jennifer L. Gerton
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Article
| Open AccessProtecting double Holliday junctions ensures crossing over during meiosis
Conditional ablation experiments show that key components of the synaptonemal complex protect double Holliday junction recombination intermediates to ensure their resolution into crossover products, which are required for accurate chromosome segregation during meiosis.
- Shangming Tang
- , Sara Hariri
- & Neil Hunter
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Article
| Open AccessHolliday junction–ZMM protein feedback enables meiotic crossover assurance
Holliday junctions maintain chromosome synapsis to enable crossover assurance in budding yeast.
- Adrian Henggeler
- , Lucija Orlić
- & Joao Matos
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Article
| Open AccessSystematic discovery of CRISPR-boosted CAR T cell immunotherapies
CELLFIE, a CRISPR platform for optimizing cell-based immunotherapies, identifies gene knockouts that enhance CAR T cell efficacy using in vitro and in vivo screens.
- Paul Datlinger
- , Eugenia V. Pankevich
- & Christoph Bock
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Article
| Open AccessA haplotype-based evolutionary history of barley domestication
The evolutionary history of barley is analysed using ancient and modern DNA.
- Yu Guo
- , Murukarthick Jayakodi
- & Martin Mascher
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News |
Gestational diabetes linked to autism in study: what scientists say
Meanwhile, US President Donald Trump says his administration has “found an answer to autism”.
- Rachel Fieldhouse
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Article |
CRISPR activation for SCN2A-related neurodevelopmental disorders
Using SCN2A haploinsufficiency as a proof-of-concept, upregulation of the existing functional gene copy through CRISPR activation was able to rescue neurological-associated phenotypes in Scn2a haploinsufficient mice and human neurons.
- Serena Tamura
- , Andrew D. Nelson
- & Kevin J. Bender
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News & Views Forum |
Epigenetic clues from cancer’s past foretell its future
An innovative method to trace tumour evolution using patterns of fluctuating DNA modifications could be implemented in the clinic to predict cancer progression.
- Pavlo Lutsik
- , Veselin Manojlovic
- & George S. Vassiliou
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Article
| Open AccessABCA7 variants impact phosphatidylcholine and mitochondria in neurons
Loss-of-function variants of ABCA7, associated with Alzheimer’s disease, result in disrupted lipid metabolism, mitochondrial function, DNA repair and synaptic signalling pathways in the human brain.
- Djuna von Maydell
- , Shannon E. Wright
- & Li-Huei Tsai
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Article
| Open AccessFluctuating DNA methylation tracks cancer evolution at clinical scale
Cancer evolutionary dynamics are quantitatively inferred using a method, EVOFLUx, applied to fluctuating DNA methylation.
- Calum Gabbutt
- , Martí Duran-Ferrer
- & Trevor A. Graham
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News |
First CRISPR horses spark controversy: what’s next for gene-edited animals?
Horses with genomic edits to make them run faster have been banned from polo, but a zoo of CRISPR-edited animals is gaining acceptance in agriculture.
- Katie Kavanagh
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Nature Video |
'How is this possible?' — two species birthed by one mother
Two brother ants defy species borders, by sharing the same mother despite being genetically different species.
- Nick Petrić Howe
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Article
| Open AccessOne mother for two species via obligate cross-species cloning in ants
In a case of obligate cross-species cloning, female ants of Messor ibericus need to clone males of Messor structor to obtain sperm for producing the worker caste, resulting in males from the same mother having distinct genomes and morphologies.
- Y. Juvé
- , C. Lutrat
- & J. Romiguier
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News & Views |
Ancient DNA clarifies the early history of the Slavs
A study examines the emergence of a group that sparked a fundamental change in lifestyle in Central and Eastern Europe in the sixth century.
- Steffen Patzold
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Article
| Open AccessSpatial joint profiling of DNA methylome and transcriptome in tissues
DNA-methylation and gene-expression profiling of tissue sections at near single-cell resolution can be used to create detailed spatial maps showing how methylation and transcription interact to shape cell identity and tissue development.
- Chin Nien Lee
- , Hongxiang Fu
- & Yanxiang Deng
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Article |
Multiple overlapping binding sites determine transcription factor occupancy
A new method enables comprehensive screening and identification of low-affinity DNA binding sites for transcription factors, and reveals that nucleotides flanking high-affinity binding sites create overlapping low-affinity binding sites that modulate transcription factor binding in vivo.
- Shubham Khetan
- , Brent S. Carroll
- & Martha L. Bulyk
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Article
| Open AccessDNA2 enables growth by restricting recombination-restarted replication
DNA2 suppresses recombination-restarted replication and checkpoint activation at stalled forks, and its loss triggers recombination-dependent synthesis, checkpoint signalling and cell-cycle exit, highlighting its essential role in proliferation and growth failure in primordial dwarfism.
- Jessica J. R. Hudson
- , Rowin Appanah
- & Ulrich Rass
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Article
| Open AccessSingle-cell transcriptomic and genomic changes in the ageing human brain
Sequencing analyses of human prefrontal cortex from donors ranging in age from 0.4 to 104 years show that ageing correlates with an accumulation of somatic mutations in short housekeeping genes and a reduction in the expression of these genes.
- Ailsa M. Jeffries
- , Tianxiong Yu
- & Michael A. Lodato
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Article
| Open AccessCas9 senses CRISPR RNA abundance to regulate CRISPR spacer acquisition
Cas9 in type II-C CRISPR–Cas systems functions independently of its RNA partners to regulate spacer acquisition, dynamically adjusting the process on the basis of crRNA abundance to maintain a sufficient CRISPR array size and immune memory.
- Xufei Zhou
- , Rucheng Diao
- & Yan Zhang
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Article |
Genetic suppression features ABHD18 as a Barth syndrome therapeutic target
The enzyme ABHD18 is shown to have a key role in cardiolipin metabolism in mitochondria, offering a potential route for a small-molecule treatment of the rare genetic disease Barth syndrome.
- Sanna N. Masud
- , Anchal Srivastava
- & Jason Moffat
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Article
| Open AccessAncient DNA connects large-scale migration with the spread of Slavs
Analyses of ancient human DNA show that cultural and political transformations in Central Europe during the second half of the first millennium ce were associated with movements of Slavic populations into Germany, Poland and Croatia.
- Joscha Gretzinger
- , Felix Biermann
- & Johannes Krause
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News |
A mammoth toothache: bacterial community discovered in mouth of ancient mammal
Genetic-sequencing techniques have uncovered the oldest host-associated microbial DNA ever recorded — inside samples of teeth and bones from woolly and steppe mammoths.
- Katie Kavanagh
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