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| Open AccessGenome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility
Psoriasis is a common inflammatory skin disease with complex genetics and different degrees of prevalence across ethnic populations. Here Yin et al. conduct a large trans-ethnic genome-wide meta-analysis and identify novel loci that contribute to population-specific susceptibility.
- Xianyong Yin
- , Hui Qi Low
- & Jianjun Liu
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Calibrating genomic and allelic coverage bias in single-cell sequencing
Artifacts caused by whole-genome amplification bias are a recurrent challenge in single-cell sequencing analysis. Here, the authors develop statistical models and demonstrate an efficient strategy for controlling amplification errors by a joint analysis of single cell genomes.
- Cheng-Zhong Zhang
- , Viktor A. Adalsteinsson
- & J. Christopher Love
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| Open AccessNew basal cell carcinoma susceptibility loci
Basal cell carcinoma is a common cancer among people of European ancestry, with associated high economic costs to monitor and treat. Here Stacey et al.conduct a genome-wide association study on Icelandic and other European populations, identifying four novel loci associated with cancer susceptibility.
- Simon N. Stacey
- , Hannes Helgason
- & Kari Stefansson
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Transcriptional refractoriness is dependent on core promoter architecture
Genes are often transcribed in random bursts followed by long periods of inactivity. Here the authors show, by a light-inducible transcription system in Neurospora, that refractory promoters carry a physical memory of their previous transcription history.
- François Cesbron
- , Michael Oehler
- & Michael Brunner
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| Open AccessGenomic signatures of human and animal disease in the zoonotic pathogen Streptococcus suis
The bacterium Streptococcus suiscauses respiratory tract infections in pigs and meningitis in humans. Here, the authors show that human disease isolates are limited to a single virulent population and find no consistent genomic differences between pig and human isolates.
- Lucy A. Weinert
- , Roy R. Chaudhuri
- & Vanessa Terra
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Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia
Myopia is a significant and increasing public health concern. Here Miyake et al. conduct a genome-wide association study and identify WNT7Bas a susceptibility gene across different ethnic groups, suggesting a possible role in the development of myopia.
- Masahiro Miyake
- , Kenji Yamashiro
- & Nagahisa Yoshimura
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| Open AccessGenome-wide profiling of p53-regulated enhancer RNAs uncovers a subset of enhancers controlled by a lncRNA
Long non-coding RNAs (lncRNAs) have emerged as important regulators of gene expression through several distinct mechanisms. Here the authors further delineate the role of p53-induced lncRNAs within the p53-responsive pathways through the activation of enhancers.
- Nicolas Léveillé
- , Carlos A. Melo
- & Reuven Agami
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Genome-wide identification of microRNA expression quantitative trait loci
As important post-transcriptional regulators of gene expression, microRNAs play a key role in the generation of complex phenotypes. Here, Huan et al.identify miR-eQTLs in whole blood samples to create a roadmap linking regulation of microRNA expression to complex diseases.
- Tianxiao Huan
- , Jian Rong
- & Jane E. Freedman
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Genomic analysis of ADAR1 binding and its involvement in multiple RNA processing pathways
ADAR1 is an adenosine deaminase that converts adenosine to inosine (A-to-I) mostly on Alu repeats in human RNA. Here by analysing transcriptome-wide ADAR1–RNA interactions, the authors show that ADAR1 also binds non-Alusequences to regulate alternative 3′ UTR usage and miRNA biogenesis in the nucleus.
- Jae Hoon Bahn
- , Jaegyoon Ahn
- & Xinshu Xiao
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| Open AccessWhole-genome sequence-based analysis of thyroid function
Levels of circulating thyrotropin and free thyroxine reflect thyroid function, however, their genetic underpinnings remain poorly understood. Taylor et al. take advantage of whole-genome sequence data from cohorts within the UK10K project to identify novel variants associated with these traits.
- Peter N. Taylor
- , Eleonora Porcu
- & Pingbo Zhang
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| Open AccessCapture Hi-C identifies the chromatin interactome of colorectal cancer risk loci
Multiple regulatory elements distant from their targets on the linear genome can influence gene expression through chromatin looping. Here, the authors report an improved chromosome conformation capture approach that can be used to identify long-range chromatin interactions in cancer risk loci.
- Roland Jäger
- , Gabriele Migliorini
- & Richard S. Houlston
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A cnidarian homologue of an insect gustatory receptor functions in developmental body patterning
Insect gustatory and olfactory receptor genes encode transmembrane proteins that detect diverse chemicals, but their evolutionary origins are unclear. This study identifies homologues of these genes in non-Bilateria and reveals an unexpected role for one in sea anemone embryonic development.
- Michael Saina
- , Henriette Busengdal
- & Richard Benton
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| Open AccessGenomic analysis of hybrid rice varieties reveals numerous superior alleles that contribute to heterosis
The principle of heterosis, whereby a hybrid variety outperforms both parents, is commonly exploited in agriculture to maximize crop yield. Here Huang et al.show that the accumulation of multiple superior alleles in hybrid varieties contributes to hybrid vigour and increased yield in rice.
- Xuehui Huang
- , Shihua Yang
- & Bin Han
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| Open AccessLow-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
Both rare and common variants contribute to the aetiology of complex traits such as type 2 diabetes (T2D). Here, the authors examine the effect of coding variation on glycaemic traits and T2D, and identify low-frequency variation in GLP1Rsignificantly associated with these traits.
- Jennifer Wessel
- , Audrey Y Chu
- & Mark O Goodarzi
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Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci
Alopecia areata (AA) is a common autoimmune disease with a known genetic component. Here, the authors analyse 3,253 AA patients and 7,543 healthy controls, and identify two new risk loci and disrupted immune response pathways associated with the disease.
- Regina C. Betz
- , Lynn Petukhova
- & Angela M. Christiano
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An ultra-low-input native ChIP-seq protocol for genome-wide profiling of rare cell populations
Standard ChIP-seq protocols require large numbers of cells for high-quality datasets, limiting the application of this technique on rare cell types. Here, Brind’Amour et al. introduce an ultra-low-input ChIP-seq protocol to generate maps of covalent histone marks from as few as 1,000 cells.
- Julie Brind’Amour
- , Sheng Liu
- & Matthew C. Lorincz
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| Open AccessEthnic-specific associations of rare and low-frequency DNA sequence variants with asthma
Common variants account for only a small amount of the heritable risk for developing asthma. Using a meta-analysis approach, Igartua et al. identify one low-frequency missense mutation and two genes with functional variants that are associated with asthma, but only in specific ethnic groups.
- Catherine Igartua
- , Rachel A. Myers
- & Carole Ober
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Electrosensory ampullary organs are derived from lateral line placodes in bony fishes
Ampullary organs are involved in electroreception, but whether these are derived from placodes, thickened ectoderm, is unclear. In this study, the ampullary organs of the primitive ray-finned fish,Polyodon spathula, are shown to develop from lateral line placodes, suggesting that this is the ancestral state in bony fishes.
- Melinda S. Modrell
- , William E. Bemis
- & Clare V.H. Baker