Physiology articles within Nature Communications

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  • Article
    | Open Access

    Psychiatric disorders are often accompanied by alterations in BMI and body composition due to changes in eating behaviour and physical activity. Here, Hübel et al. study the genetic overlap between these traits and find that genetic correlations between psychiatric disorders and body composition are sex-specific and evident only in adulthood.

    • Christopher Hübel
    • , Héléna A. Gaspar
    •  & Gerome Breen

  • Article
    | Open Access

    Pacing tools that support small animals and can serve as models for pathogenesis of cardiovascular diseases are currently not available. Here, the authors report a miniaturized wireless battery-free implantable multimodal and multisite pacemaker that provides unlimited stimulation to test subjects.

    • Philipp Gutruf
    • , Rose T. Yin
    •  & John A. Rogers

  • Article
    | Open Access

    The kidney is vascularized with highly specialized and zonated endothelial cells that are essential for its filtration function. Here, Barry et al. provide a single-cell RNA sequencing analysis of the kidney vasculature that highlights its transcriptional heterogeneity and uncovers pathways important for its development and function.

    • David M. Barry
    • , Elizabeth A. McMillan
    •  & Shahin Rafii

  • Article
    | Open Access

    Understanding mechanisms of cerebral oxygen regulation is critical for healthy brain function. Here the authors show that respiration is a key modulator of cerebral oxygenation, which will be helpful in better resolving neurally-generated functional brain imaging signals, such as BOLD fMRI.

    • Qingguang Zhang
    • , Morgane Roche
    •  & Patrick J. Drew

  • Article
    | Open Access

    Electrical stimulation of the brain can have variable effects, perhaps because of individual differences in brain structure which produce differences in the electric fields. Here, the authors show that using functional and structural brain imaging along with electric field modeling can predict the effectiveness of stimulation.

    • Florian H. Kasten
    • , Katharina Duecker
    •  & Christoph S. Herrmann

  • Article
    | Open Access

    Uterine gland development is essential for successful embryo implantation, decidua formation and placental development. Here the authors demonstrate that neonatal Wnt-dependent Lgr5 expressing stem/progenitor cells at the tips of developing glands are indispensable for uterine gland development.

    • Ryo Seishima
    • , Carly Leung
    •  & Nick Barker

  • Article
    | Open Access

    Histone deacetylase 3 (HDAC3) is a regulator of lipid homeostasis in several tissues, however, its role in intestinal lipid metabolism was not yet known. Here the authors study intestine specific HDAC3 knock out mice and report that these animals have increased fatty acid oxidation and undergo remodeling of the intestinal epithelial cell lipidome.

    • Mercedes Dávalos-Salas
    • , Magdalene K. Montgomery
    •  & John M. Mariadason

  • Article
    | Open Access

    Integrin-linked kinase (ILK) is an important mediator of integrin signaling. Here Park et al. show that mice with endothelial-specific deletion of Ilk develop vascular defects that resemble familial exudative vitreoretinopathy, and identify mutations in ILK in patients with exudative vitreoretinopathy suggesting a potential role in human pathogenesis.

    • Hongryeol Park
    • , Hiroyuki Yamamoto
    •  & Ralf H. Adams

  • Article
    | Open Access

    Kidney stones form in the presence of overabundance of crystal-forming substances such as Ca2+ and oxalate. Here, the authors report genome-wide association analyses for kidney stone disease, report seven previously unknown loci and find that some of these loci also associate with Ca2+ concentration and excretion.

    • Sarah A. Howles
    • , Akira Wiberg
    •  & Dominic Furniss

  • Article
    | Open Access

    Proper ovarian differentiation requires RUNX1. Here, the authors show that double knockout of Runx1/Foxl2 results in masculinization of fetal ovaries, and that RUNX1 and FOXL2 jointly occupy common chromatin regions to maintain pre-granulosa cell identity in the fetal ovary.

    • Barbara Nicol
    • , Sara A. Grimm
    •  & Humphrey H.-C. Yao

  • Article
    | Open Access

    C. elegans is a commonly used model organism in the study of ageing, and differences in genetic background can result in varying strain longevity. Here the authors demonstrate that a background mutation in fln-2 affects life-limiting pharyngeal infection and that in the mutant background the beneficial effect of sir-2.1 over-expression is suppressed.

    • Yuan Zhao
    • , Hongyuan Wang
    •  & David Gems

  • Article
    | Open Access

    During high-intensity exercise, muscles convert glucose to lactate, in a process that is energetically less efficient than respiration. Here the authors develop a computational model based on muscle proteomic data showing that bypassing mitochondrial complex I increases ATP production rates, and validate these model predictions in an exercise test on 5 subjects.

    • Avlant Nilsson
    • , Elias Björnson
    •  & Jens Nielsen

  • Article
    | Open Access

    Uterine leiomyomata (UL) or fibroids are neoplasms of the uterine smooth muscle associated with heavy menstrual bleeding and other female reproductive tract morbidity. Here, the authors identify eight previously undescribed genetic loci for UL and further look into genetic overlap with heavy menstrual bleeding and endometriosis.

    • C. S. Gallagher
    • , N. Mäkinen
    •  & C. C. Morton

  • Article
    | Open Access

    It’s well known that hippocampal synaptic plasticity and memory are impaired in experimental models of metabolic diseases, however, it is unclear if maternal diet or metabolic alterations around the gestational age may multigenerationally affect learning and memory. In this study, authors demonstrate that maternal high fat diet-dependent insulin resistance affects synaptic plasticity and memory of descendants until the third generation via reduced exon specific brain-derived neurotrophic factor expression in the hippocampus of descendants

    • Salvatore Fusco
    • , Matteo Spinelli
    •  & Claudio Grassi

  • Article
    | Open Access

    Aberrant morphology of the QRS complex in an electrocardiogram can be associated with cardiac morbidity and mortality. Here, the authors perform genome-wide association studies for ten measures of the QRS complex in 81,192 individuals and find 86 previously unreported loci that associate with at least one parameter.

    • Kristjan Norland
    • , Gardar Sveinbjornsson
    •  & Kari Stefansson

  • Article
    | Open Access

    Mosaic loss of chromosome Y (mLOY) is associated with age and smoking but also genetic factors play a role. Here, Terao et al. perform GWAS for mLOY in 95,380 Japanese men and identify 46 loci that overlap with hematopoietic stem cell enhancers and transcription factor binding sites critical for hematopoiesis.

    • Chikashi Terao
    • , Yukihide Momozawa
    •  & Yoichiro Kamatani

  • Article
    | Open Access

    Large whole-exome sequencing studies have suggested that the genetic architecture of syndromic congenital heart disease (CHD) is different from sporadic forms. Here, Watkins et al. estimate the relative contribution of damaging recessive and de novo genotypes to CHD in 2391 trios and find them to be associated with different gene functions.

    • W. Scott Watkins
    • , E. Javier Hernandez
    •  & Martin Tristani-Firouzi

  • Article
    | Open Access

    Reactive oxygen species (ROS) stimulate GLUT4-mediated glucose transport following contraction of isolated muscle, but it is not clear if this occurs in vivo. Here, the authors show in human volunteers that exercise induces ROS increase in muscle and, using loss of-function animal models, they demonstrate that NOX2 is a major ROS source required to stimulate glucose uptake during exercise.

    • Carlos Henríquez-Olguin
    • , Jonas R. Knudsen
    •  & Thomas E. Jensen

  • Article
    | Open Access

    The lymphatic vasculature is essential to maintain fluid homeostasis and immune surveillance, including in the brain where lymphatic vessels were only recently identified. Here, Jacob et al. provide an anatomical map of lymphatic vessels in the vertebral column, where they find these contribute to fluid drainage and immune responses.

    • Laurent Jacob
    • , Ligia Simoes Braga Boisserand
    •  & Jean-Leon Thomas

  • Article
    | Open Access

    Vocal development in humans and primate model systems is typically attributed to changing neural circuits. Here the authors show in marmoset monkeys that biomechanical changes in the vocal organ underlie the transition from infant cries to adult contact calls, demonstrating that vocal development is not solely due to neural control.

    • Yisi S. Zhang
    • , Daniel Y. Takahashi
    •  & Coen P. H. Elemans

  • Article
    | Open Access

    Cardiovascular diseases (CVD) are associated with plasma lipid levels. Here, Tabassum et al. perform genome-wide association studies for lipidomic profiles with 141 (non-standard) lipid species which highlights shared genetic loci with CVD and that traditional lipids have low genetic correlation with other lipids.

    • Rubina Tabassum
    • , Joel T. Rämö
    •  & Samuli Ripatti

  • Article
    | Open Access

    AMPA-type glutamate receptors, which mediate fast excitatory signaling throughout the brain, exhibit profound desensitization, causing a progressive current decline in the continued presence of agonist. Here authors show that homomeric Q/R edited AMPARs still allow ions to flow when the receptors are desensitized.

    • Ian D. Coombs
    • , David Soto
    •  & Stuart G. Cull-Candy

  • Article
    | Open Access

    Nicotinamide adenine dinucleotide (NAD+) sustains cellular energy metabolism, functions as a substrate of Sirt and PARP enzymes, and its supplementation is explored therapeutically in aging and other contexts. Here the authors provide insight into the role of endogenous NAD+ metabolism by studying nicotinamide riboside kinase 1 (NRK1) deficient mice.

    • Audrey Sambeat
    • , Joanna Ratajczak
    •  & Carles Canto

  • Article
    | Open Access

    Exposure to air pollution during pregnancy has been associated with impaired birth outcomes. Here, Bové et al. report evidence of black carbon particle deposition on the fetal side of human placentae, including at early stages of pregnancy, suggesting air pollution could affect birth outcome through direct effects on the fetus.

    • Hannelore Bové
    • , Eva Bongaerts
    •  & Tim S. Nawrot

  • Article
    | Open Access

    Stress kinases are activated in peripheral ischemic tissues in the presence of vascular diseases. Here the authors show that inhibition of the neural JNK3 kinase improves recovery from hind limb ischemia in animals through activation of the transcription factors Egr1/Creb1 and upregulation of growth factors.

    • Shashi Kant
    • , Siobhan M. Craige
    •  & John F. Keaney Jr.

  • Article
    | Open Access

    Photosynthetic organisms can dissipate excess absorbed light energy as heat to avoid photodamage. Here the authors show that induced thermal dissipation in the diatom Phaeodactylum tricornutum Pt4 is Lhcx protein-dependent and correlates with a reduced functional absorption cross-section of photosystem II.

    • Jochen M. Buck
    • , Jonathan Sherman
    •  & Bernard Lepetit

  • Article
    | Open Access

    Survival and proliferation of vascular cells in the presence of DNA damage is a characteristic of pulmonary arterial hypertension. Here the authors show that the phosphatase EYA3 contributes to vascular remodeling by promoting survival of damaged cells, and present results of genetic and pharmacological EYA3 inhibition.

    • Yuhua Wang
    • , Ram Naresh Pandey
    •  & Rashmi S. Hegde

  • Article
    | Open Access

    AMPA receptors mediate excitatory synaptic transmission and are involved in synaptic plasticity. The authors show that p97 interacts with the GluA1 subunit of AMPA receptors, promotes the formation of GluA1 homomeric AMPA receptors, and regulates AMPA receptor trafficking during synaptic plasticity.

    • Yuan Ge
    • , Meng Tian
    •  & Yu Tian Wang

  • Article
    | Open Access

    Nicotine reduces food intake and increases energy expenditure in brown adipose tissue. Here the authors show that nicotine also induces white adipose tissue browning via central kappa opioid receptor action.

    • Patricia Seoane-Collazo
    • , Laura Liñares-Pose
    •  & Miguel López

  • Article
    | Open Access

    IL-36α,β and ɣ are IL-1-related cytokines promoting inflammation in the skin and intestine. Here the authors show they are elevated in individuals with obesity, and that mice lacking the IL-36 receptor antagonist are more resistant to diet-induced obesity and metabolic dysfunction, which depends on intestinal microbiota.

    • Eirini Giannoudaki
    • , Yasmina E. Hernandez-Santana
    •  & Patrick T. Walsh

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