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Genetic risk converges on regulatory networks mediating early type 2 diabetes
Integration of multiomics data with functional analysis of pancreatic tissues from individuals with early-stage type 2 diabetes indicates that the genetic risk converges on RFX6, which regulates chromatin architecture at multiple risk loci.
- John T. Walker
- , Diane C. Saunders
- & Marcela Brissova
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Perspective |
Functional genomics and systems biology in human neuroscience
Technical developments and large collaborative research networks in neurogenomics promise rapid progress in neuroscience, but translation of results from model systems to human brains is limited by sample availability, technical challenges and ethical issues.
- Genevieve Konopka
- & Aparna Bhaduri
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Article
| Open AccessTranscriptional linkage analysis with in vivo AAV-Perturb-seq
An in vivo single-cell CRISPR screening method identifies transcriptional phenotypes of 22q11.2 deletion syndrome associated with a broad dysregulation of a class of disease susceptibility genes that are important for RNA processing and synaptic function.
- Antonio J. Santinha
- , Esther Klingler
- & Randall J. Platt
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Article |
A spatially resolved single-cell genomic atlas of the adult human breast
The Human Breast Cell Atlas identifies 12 major breast cell types and 58 biological cell states, revealing abundant pericyte, endothelial and immune cell populations, and highly diverse luminal epithelial cell states.
- Tapsi Kumar
- , Kevin Nee
- & Nicholas Navin
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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 AccessActive eosinophils regulate host defence and immune responses in colitis
Single-cell transcriptomic profiling and functional assays are used to identify subpopulations of eosinophils that are present in the mouse gastrointestinal tract and provide insight into the role of these cells in inflammatory bowel diseases in humans.
- Alessandra Gurtner
- , Costanza Borrelli
- & Isabelle C. Arnold
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Article
| Open AccessLive-seq enables temporal transcriptomic recording of single cells
Live-seq, a single-cell transcriptome profiling approach that preserves cell viability during RNA extraction using fluidic force microscopy, can address a range of biological questions by transforming scRNA-seq from an end-point to a temporal analysis approach.
- Wanze Chen
- , Orane Guillaume-Gentil
- & Bart Deplancke
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Article |
Transcriptome variation in human tissues revealed by long-read sequencing
To understand the contribution of variants to transcript expression regulation, long-read transcriptome data are generated from the GTEx resource, and a new software package to perform allele-specific analysis is developed.
- Dafni A. Glinos
- , Garrett Garborcauskas
- & Beryl B. Cummings
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Article |
Recording gene expression order in DNA by CRISPR addition of retron barcodes
Retro-Cascorder, a system for time-ordered recording of transcriptional output, uses retrons as a tag to mediate DNA barcode acquisition in a CRISPR array.
- Santi Bhattarai-Kline
- , Sierra K. Lear
- & Seth L. Shipman
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Article
| Open AccessEarly prediction of preeclampsia in pregnancy with cell-free RNA
Analyses of circulating cell-free RNA (cfRNA) in blood samples from pregnant mothers identify changes in gene expression that could be used in liquid biopsy tests to identify and monitor individuals who are at risk of preeclampsia.
- Mira N. Moufarrej
- , Sevahn K. Vorperian
- & Stephen R. Quake
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Article
| Open AccessA transcriptomic and epigenomic cell atlas of the mouse primary motor cortex
The authors describe an integrated atlas of the diverse cell types in the mouse primary motor cortex.
- Zizhen Yao
- , Hanqing Liu
- & Eran A. Mukamel
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Article |
Single-cell Ribo-seq reveals cell cycle-dependent translational pausing
Highly sensitive ribosome profiling of single cells at single-codon resolution enables identification of distinct cell cycle-dependent translational dynamic states in individual cells.
- Michael VanInsberghe
- , Jeroen van den Berg
- & Alexander van Oudenaarden
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Article |
Resolving the fibrotic niche of human liver cirrhosis at single-cell level
Single-cell RNA sequencing is used to characterize and compare the functional diversity of cells from liver biopsies of human scarred and normal liver, and identifies markers for scar-associated macrophages and endothelial cells.
- P. Ramachandran
- , R. Dobie
- & N. C. Henderson
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Article |
Gene expression across mammalian organ development
The transcriptomes of seven major organs across developmental stages from several mammalian species are used for comparative analyses of gene expression and evolution across organ development.
- Margarida Cardoso-Moreira
- , Jean Halbert
- & Henrik Kaessmann
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Article |
Gene expression variability across cells and species shapes innate immunity
Comparison of transcriptomic data from immune-stimulated cells across different species sheds light on the architecture of the innate immune response.
- Tzachi Hagai
- , Xi Chen
- & Sarah A. Teichmann
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Article |
Single-cell transcriptomics of 20 mouse organs creates a Tabula Muris
A ‘mouse atlas’, comprising single-cell transcriptomic data from more than 100,000 cells from 20 organs and tissues, has been created as a resource for cell biology.
- Nicholas Schaum
- , Jim Karkanias
- & Tony Wyss-Coray
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Letter
| Open AccessThe impact of rare variation on gene expression across tissues
The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.
- Xin Li
- , Yungil Kim
- & Stephen B. Montgomery
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Letter |
Inflammasome-driven catecholamine catabolism in macrophages blunts lipolysis during ageing
Lipolysis declines with age because NLRP3 inflammasome-activated adipose tissue macrophages reduce levels of noradrenaline by upregulating genes that control its degradation, such as GDF3 and MAOA.
- Christina D. Camell
- , Jil Sander
- & Vishwa Deep Dixit
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Article |
An atlas of human long non-coding RNAs with accurate 5′ ends
A catalogue of human long non-coding RNA genes and their expression profiles across samples from major human primary cell types, tissues and cell lines.
- Chung-Chau Hon
- , Jordan A. Ramilowski
- & Alistair R. R. Forrest
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Letter |
Integrator mediates the biogenesis of enhancer RNAs
This study demonstrates a role for the Integrator complex in the stimulus-dependent induction of eRNAs and their 3′ processing; together with previously known roles of Integrator in transcription elongation and RNA processing, these results indicate that Integrator has broad functions in the regulation of eukaryotic gene expression.
- Fan Lai
- , Alessandro Gardini
- & Ramin Shiekhattar
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Article
| Open AccessDiversity and dynamics of the Drosophila transcriptome
A large-scale transcriptome analysis in Drosophila melanogaster, across tissues, cell types and conditions, provides insights into global patterns and diversity of transcription initiation, splicing, polyadenylation and non-coding RNA expression.
- James B. Brown
- , Nathan Boley
- & Susan E. Celniker
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Article |
The evolution of lncRNA repertoires and expression patterns in tetrapods
Evolutionary study of long noncoding RNA (lncRNA) repertoires and expression patterns in 11 tetrapod species identifies approximately 11,000 primate-specific lncRNAs and 2,500 highly conserved lncRNAs, including approximately 400 genes that are likely to have ancient origins; many lncRNAs, particularly ancient ones, are actively regulated and may function mainly in embryonic development.
- Anamaria Necsulea
- , Magali Soumillon
- & Henrik Kaessmann
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Letter |
Single-cell transcriptomics reveals bimodality in expression and splicing in immune cells
Single-cell RNA sequencing is used to investigate the transcriptional response of 18 mouse bone-marrow-derived dendritic cells after lipopolysaccharide stimulation; many highly expressed genes, such as key immune genes and cytokines, show bimodal variation in both transcript abundance and splicing patterns. This variation reflects differences in both cell state and usage of an interferon-driven pathway involving Stat2 and Irf7.
- Alex K. Shalek
- , Rahul Satija
- & Aviv Regev
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Letter |
Increased HIV-1 vaccine efficacy against viruses with genetic signatures in Env V2
Genetic analysis of breakthrough infections in people vaccinated against HIV-1 show that vaccine efficacy increased by up to 80% against viruses carrying two mutations in Env V2, but also raises the possibility of population-level adaptation to the vaccine.
- Morgane Rolland
- , Paul T. Edlefsen
- & Jerome H. Kim
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Outlook |
Perspective: A model disease
Despite its rarity, multiple myeloma is an ideal testing ground for cancer biology, says William Matsui.
- William Matsui
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Letter |
Predicting mutation outcome from early stochastic variation in genetic interaction partners
Mutations sometimes only affect a subset of genetically identical individuals; here, variation in the expression of chaperones and gene duplicates is shown to predict mutation outcome in C. elegans.
- Alejandro Burga
- , M. Olivia Casanueva
- & Ben Lehner
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Article |
New gene functions in megakaryopoiesis and platelet formation
A meta-analysis of genome-wide association studies in more than 66,000 individuals identifies 68 new genomic loci that reliably associate with platelet count and volume, and reveals new gene functions.
- Christian Gieger
- , Aparna Radhakrishnan
- & Nicole Soranzo
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Article |
Spatio-temporal transcriptome of the human brain
- Hyo Jung Kang
- , Yuka Imamura Kawasawa
- & Nenad Šestan
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Letter |
Temporal dynamics and genetic control of transcription in the human prefrontal cortex
- Carlo Colantuoni
- , Barbara K. Lipska
- & Joel E. Kleinman
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Article
| Open AccessMultiple reference genomes and transcriptomes for Arabidopsis thaliana
- Xiangchao Gan
- , Oliver Stegle
- & Richard Mott
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Review Article |
Central dogma at the single-molecule level in living cells
- Gene-Wei Li
- & X. Sunney Xie
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Letter |
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
- Irina Voineagu
- , Xinchen Wang
- & Daniel H. Geschwind
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News |
Water flea genome offers revolution in toxicity testing
DNA sequence of Daphnia could help scientists to probe the environment and test chemicals.
- Virginia Gewin
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Letter |
Pericytes regulate the blood–brain barrier
The blood–brain barrier (BBB) is made up of vascular endothelial cells and was thought to have formed postnatally from astrocytes. Two independent studies demonstrate that this barrier forms during embryogenesis, with pericyte/endothelial cell interactions being critical to regulate the BBB during development. A better understanding of the relationship among pericytes, neuroendothelial cells and astrocytes in BBB function will contribute to our understanding of BBB breakdown during central nervous system injury and disease.
- Annika Armulik
- , Guillem Genové
- & Christer Betsholtz
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News |
Watching a gene at work
How human proteins are made from DNA can be followed in real time.
- Brendan Borrell