Search bioRxiv⌕ Search

Biology subjects

Clarke, S.

Publications and source records attributed to Clarke, S..

At least 19 recordsLinked to original sources

Extracellular vesicle cross-linking coupled with solid-phase purification facilitates discovery of ribonucleoprotein complexes assembled on EV RNAs.

Extracellular vesicles (EVs) are fundamental mediators of intercellular communication that transfer macromolecular cargo, including proteins and RNAs, to functionally reprogram recipient cells. However, the molecular processes by which transferred ribonucleoprotein (RNP) complexes engage recipient host machinery to influence cellular behavior are poorly understood, primarily due to a dearth of methods capable of tracking these post-transfer interactions. To address this gap, we developed two complementary chemical biology platforms: EV-CLASP and EV(r)-CLASP. While EV-CLASP maps the native, intra-vesicular RNP landscape packaged within the EV, EV(r)-CLASP captures post-transfer dynamics by identifying the host proteins that directly associate with EV-derived RNAs following cellular uptake. Both approaches leverage metabolic labeling and photo-crosslinking for high-specificity recovery. Donor cells are cultured with 4-thiouridine (4SU) to biosynthetically label newly synthesized RNAs during EV biogenesis. Purified EVs can be crosslinked using 365 nm UV light to capture intra-vesicular RNP composition. Alternatively, 4SU-labeled EVs can be delivered to recipient cells and subsequently crosslinked to identify the primary physical interactions formed within the recipient-cell environment. Crosslinked RNP complexes are isolated under stringent conditions using solid-phase reversible beads to minimize background, followed by quantitative mass spectrometry for protein identification. Together, EV-CLASP and EV(r)-CLASP provide a robust, versatile framework for defining the dynamic RNP assemblies that facilitate extracellular RNA communication, offering a powerful toolkit to uncover novel RNA-associated regulatory networks, therapeutic targets, and biomarkers across diverse biological and disease contexts.

cancer biology↗

A non-invasive method of air pollutant exposure in an avian model of development

Air pollution is a growing public health concern. The developing fetus is particularly vulnerable, with exposure during pregnancy linked to negative developmental health outcomes. Teratogenic studies rely on the use of model organisms, such as the chick embryo, a well- established model of human development. However, existing protocols for the exposure of chick embryos to gaseous and aerosol pollutants have financial and technical limitations. Here, we present a novel, non-invasive method for the long-term exposure of chicken embryos to a gaseous toxin, carbon monoxide (CO). Exposure is performed inside airtight incubation boxes, which can be used in a standard laboratory incubator. We demonstrate reliable dosing of precise internal CO concentrations up to 200ppm, using a simple volumetric approach. Following optimization of key incubation parameters, temperature and turning frequency, we determined the impact of the system on embryo viability and development. Closed box incubation caused minor developmental delay but had no effect on chick embryo viability. Internal oxygen concentrations remained above hypoxic levels. No significant effects of exposure up to 200ppm CO were observed on embryo viability, weight or developmental stage. In conclusion, we present a non-invasive, affordable, accessible and technically straightforward exposure method for air pollutant teratogenicity studies. This method can be applied to other model systems and organisms beyond the chick embryo as well as to other gaseous and aerosol toxins. Thus, the system offers a suitable platform for future research on teratogenic doses, mechanisms and effects of air pollutants.

pharmacology and toxicology↗

The RUMIGEN EpiChip: a versatile, medium density DNA methylation Beadchip for large scale population studies in cattle

BackgroundDNA methylation contributes to the elaboration of phenotypes and is hypothesized to account for interindividual variations in farm animals. Currently, methodologies available to investigate DNA methylation in cattle rely on high throughput sequencing, which cannot be applied to large cohorts. To enable large scale DNA methylation analysis, we developed the RUMIGEN EpiChip, the first DNA methylation array specifically designed for cattle. ResultsManufactured by Illumina, the EpiChip contains 43,317 CpG markers allowing analysis of phenotypes of agronomical interest as well as the study of regulatory processes. The assay design drew on data from numerous studies achieved by the scientific community, and includes CpGs where methylation varies with health status, physiological stage, fertility, and environmental challenges, as well as CpGs located in functional genomic elements (promoters, CTCF binding sites, expression quantitative trait loci). The technical performances of the EpiChip were tested on several semen and blood DNA samples and in two laboratories, showing excellent repeatability, accuracy and interoperability. Methylation values were also concordant with those obtained by reduced representation bisulfite sequencing. The EpiChip has demonstrated a good ability to explore biological processes such as genomic imprinting and differences between cell types, opening the possibility of inferring blood cell composition. Finally, analysis of longitudinal ear biopsies allowed accurate age prediction, suggesting the potential of the array to refine epigenetic clocks. ConclusionsThe RUMIGEN EpiChip is a cost-effective and versatile resource that opens new opportunities for the study of regulatory mechanisms underlying phenotypic variation and for large-scale association analyses in cattle.

genomics↗

The Incoming Influenza Genome Assembles a Host RBP Network that Orchestrates Viral RNA Synthesis

Influenza A virus (IAV) replication initiates within minutes of entry, yet the earliest host determinants acting on the incoming viral genome remain undefined. Here, using VIR-CLASP to capture protein interactions with progenitor vRNA prior to any detectable viral transcription, we map the first host-viral RNA interface and identify [~]700 human RNA binding proteins (RBPs) proactively recruited by the negative-sense genome. These factors are enriched in pathways essential for RNA metabolism, chromatin remodeling, transcriptional regulation, and nuclear condensate organization, revealing that the vRNA engages a far broader host network than previously appreciated. Functional interrogation of top candidates demonstrates that GMPS, TOP2A, SRRM2, and SPEN serve as critical proviral factors operating at distinct stages of the IAV synthesis program: GMPS and SPEN are required for efficient production of vRNA, cRNA, and mRNA; TOP2A promotes mRNA capping and early transcript accumulation; and SRRM2, together with SR-proteins, coordinates splicing of viral M and NS transcripts. These findings support a model in which the incoming vRNA acts not merely as a transcriptional template but as a scaffold that initiates assembly of nuclear machinery required for productive viral replication. By defining the pre-replicative viral RNA interactome and its functional consequences, this work exposes an unrecognized layer of host control over IAV permissivity and establishes new points of vulnerability for antiviral intervention.

molecular biology↗

Early Host-Virus RNA Interactions Reveal SPEN-Driven m6A Regulation as a Major Determinant of Henipavirus Infection

Early interactions between viral RNA and host-encoded RNA-binding proteins are pivotal in shaping the trajectory of RNA virus infection. Henipaviruses are emerging, highly lethal BSL-4 pathogens whose mechanisms of pathogenesis remain largely elusive. To illuminate the earliest moments of host-virus interplay, we employed Viral Cross-linking and Solid-phase Purification (VIR-CLASP) to capture host proteins bound to the incoming henipavirus genome within the first hour of infection. This approach establishes the first henipavirus RNA-host protein interactome, revealing 146 human proteins directly associated with the primary viral RNA. Among these, SPEN, RBM15, and RBM15B - canonical regulators of lncRNA Xist - emerged as key host factors that actively promote viral infection. Direct RNA sequencing further uncovered that SPEN depletion induces widespread hypomethylation, affecting ~98% of differentially modified m6A sites, ~87% of which localize to the L mRNA transcript encoding the viral RNA-dependent RNA polymerase. Collectively, these findings expose a critical layer of host dependency at the very onset of infection and reveal a previously unappreciated role for SPEN family proteins in facilitating henipavirus infection.

biochemistry↗

Multi-focal ultrasound neuromodulation to the dorsal anterior cingulate cortex disrupts behavioural and neural pain processing

Transcranial ultrasound stimulation (TUS) is a promising non-invasive technique for modulating deep brain regions involved in pain. TUS applied to the dorsal anterior cingulate cortex (dACC), a region implicated in chronic pain and established target for deep brain stimulation, has shown potential for reducing pain. This study aimed to investigate the neural mechanisms underlying TUS effects on pain in healthy participants using neuroimaging. Thirty-two participants underwent two double-blind, randomised TUS-fMRI sessions (active or sham). A tonic cold stimulus was applied during multifocal dACC-TUS and during fMRI and magnetic resonance spectroscopy (MRS) blocks. While no significant main effect of TUS on pain intensity was observed, active TUS showed a significantly greater reduction in pain ratings between 28- and 55-minutes post-stimulation, suggesting a delayed analgesic effect. Active TUS also disrupted the typical relationship between stimulus temperature and reported pain intensity, indicating altered sensory encoding. There was increased functional connectivity between the dACC and the supplementary motor area, pre-motor cortex, mid-ACC and the supramarginal gyrus, along with decreased coupling with the periaqueductal grey (PAG), and altered salience network connectivity. Overall, these findings suggest TUS to the dACC has multidimensional effects across behavioural and neural aspects of pain processing, supporting its potential therapeutic value.

neuroscience↗

Sex differences in durability following heavy intensity cycling exercise in trained athletes

The ability to withstand impairments in key physiological variables during prolonged exercise, known as durability, is emerging as an important factor in cycling performance. While females possess physiological characteristics that could confer enhanced durability relative to males, little is known about potential sex differences. 32 trained cyclists (16 males and 16 females) performed an incremental exercise test to exhaustion in visit 1. In visit 2 they performed 90 minutes of heavy intensity cycling (HVY) at 110% of gas exchange threshold (GET), followed by another incremental test. During HVY, pulmonary gas exchange ([V]O2 and [V]CO2) ventilation ([V]E), heart rate (HR), rating of perceived exertion (RPE), near-infrared spectroscopy and electromyography were recorded, and blood lactate (BLa) was collected. Before and after HVY, maximal voluntary contraction (MVIC), voluntary activation (VA) and potentiated twitches (100Hz, 10Hz, Qtw{middle dot}pot) of the knee extensors were assessed. Power at GET (-16{+/-}15% vs -2{+/-}13%) and respiratory compensation point (-13{+/-}10% vs -6{+/-}9%) decreased more in males than females (P[&le;]0.049). All aspects of neuromuscular function decreased from pre to post (all P<0.001), without sex differences (P[&ge;]0.096). During HVY, HR, [V]O2 (%peak), relative energy expenditure increased more in males (P[&le;]0.008), whereas respiratory exchange ratio decreased more in females (P=0.001). BLa was higher in males than females (P=0.030). Muscle oxygen extraction was lower (P=0.004) and tissue saturation index higher for females (P<0.001). The smaller reductions exhibited by females in submaximal thresholds, associated with lesser derangements to oxidative efficiency, highlight the need to consider sex-specific training prescription and pacing strategies for long duration events. Key PointsO_LIDurability, as measured by the reduction in incremental exercise test outcomes, is relatively unexplored in females compared to males, despite physiological sex differences that might confer a female advantage. C_LIO_LIAfter 90 minutes of heavy intensity cycling, males demonstrated greater reductions in the power outputs associated with gas exchange threshold and respiratory compensation point. C_LIO_LIThe maximal rate of oxygen consumption and incremental test peak power output decreased similarly in both sexes. C_LIO_LIThese changes are associated with greater carbohydrate metabolism and losses of efficiency in males, whereas no sex differences were observed in neuromuscular fatigue. C_LI

physiology↗

The road less travelled: Exploring the genomic characteristics and antimicrobial resistance potential of Acinetobacter baumannii from the indigenous Orang Asli community in Peninsular Malaysia

Acinetobacter baumannii is widely recognized as a multidrug-resistant pathogen, but with most public genome datasets biased toward hospital-derived isolates. Little is thus known about A. baumannii isolates from healthy individuals from the community. This study analysed genome sequences from nine A. baumannii isolates obtained from the upper respiratory tract of healthy individuals of the indigenous Orang Asli community in their rural settlements located in the east coast of Peninsular Malaysia. Genomic analysis revealed all nine A. baumannii isolates to be genetically distinct and included three new sequence types (STs) under the Pasteur scheme and six novel STs under the Oxford scheme. Notably, one isolate, A. baumannii 19064, belonged to Global Clone 8 (GC8), a lineage associated with clinical infections. Core genome phylogeny indicated that the Orang Asli community isolates were interleaved with several non-GC clinical isolates from the tertiary hospital within the same state. This is suggestive of the potential of these community isolates to cause infections under conducive conditions. This is also attested by the identification of several virulence factors in their genomes. All nine isolates carried various intrinsic blaOXA-51-like class D {beta}-lactamase genes and class C Acinetobacter-derived cephalosporinase (ADC) blaADC genes but remained susceptible to meropenem. Two isolates, A. baumannii 19053 and 19062, were tetracycline resistant but minocycline susceptible and harboured the tet(39)-tetR gene pair within mobile pdif modules located on distinct Rep_3 family plasmids. Only one isolate, A. baumannii 19055, is plasmid-free; the rest mainly harboured cryptic Rep_3-type plasmids, often containing identifiable pdif modules. These findings highlight the clinical relevance of A. baumannii strains residing in healthy individuals, particularly in isolated communities that are seldom accessible to public health. Despite their remote location, the Orang Asli A. baumannii isolates possess virulence factors and antibiotic resistance genes similar to those found in hospital settings. This underscores the importance of genomic surveillance of commensal pathogens, and taking this road which is less travelled can help inform broader epidemiological insights and guide future public health strategies.

microbiology↗

Cell modeling and rescue of a novel non-coding genetic cause of Glycogen Storage Disease IX

Delayed diagnosis of Mendelian disease substantially prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is the functional interpretation of non-coding variants that cause disease by altering splicing and/or gene expression. We identified two siblings with glycogen storage disease (GSD) type IX {gamma}2, both of whom had a classic clinical presentation, enzyme deficiency, and a known pathogenic splice acceptor variant on one allele of PHKG2. Despite the autosomal recessive nature of the disease, no variant on the second allele was identified by gene panel sequencing. To identify a potential missing second pathogenic variant, we completed whole genome sequencing (WGS) and detected putative deep intronic splicing variant in PHKG2 in both siblings. We confirmed the functional splicing effects of this variant using short-read and long-read RNA-seq on patient blood and a HEK293T cell model in which we installed the variant using CRISPR editing. Using the cell model, we demonstrated multiple biochemical and cellular impacts that are consistent with GSD IX {gamma}2, and a reversal of aberrant splicing using antisense splice-switching oligonucleotides. In doing so, we demonstrate a novel and robust pathway for detecting, validating, and reversing the impacts of novel non-coding causes of rare disease.

genetics↗

Chromosomal instability shapes the tumor microenvironment of esophageal adenocarcinoma via a cGAS-chemokine-myeloid axis

Chromosomal instability (CIN), a characteristic feature of esophageal adenocarcinoma (EAC), drives tumor aggressiveness and therapy resistance, presenting an intractable problem in cancer treatment. CIN leads to constitutive stimulation of the innate immune cGAS-STING pathway, which has been typically linked to anti-tumor immunity. However, despite the high CIN burden in EAC, the cGAS- STING pathway remains largely intact. To address this paradox, we developed novel esophageal cancer models, including a CIN-isogenic model, discovering myeloid-attracting chemokines - with the chemokine CXCL8 (IL-8) as a prominent hit - as conserved CIN-driven targets in EAC. Using high-resolution multiplexed immunofluorescence microscopy, we quantified the extent of ongoing cGAS-activating CIN in human EAC tumors by measuring cGAS-positive micronuclei in tumor cells, validated by orthogonal whole-genome sequencing-based CIN metrics. By coupling in situ CIN assessment with single-nucleus RNA sequencing and multiplex immunophenotypic profiling, we found tumor cell-intrinsic innate immune activation and intratumoral myeloid cell inflammation as phenotypic consequences of CIN in EAC. Additionally, we identified increased tumor cell-intrinsic CXCL8 expression in CINhigh EAC, accounting for the inflammatory tumor microenvironment. Using a novel signature of CIN, termed CINMN, which captures ongoing CIN-associated gene expression, we confirm poor patient outcomes in CINhigh tumors with signs of aberrantly rewired cGAS-STING pathway signaling. Together, our findings help explain the counterintuitive maintenance and expression of cGAS-STING pathway components in aggressive, CINhigh tumors and emphasize the need to understand the contribution of CIN to the shaping of a pro-tumor immune landscape. Therapeutic strategies aimed at disrupting the cGAS-driven inflammation axis may be instrumental in improving patient outcomes in this aggressive cancer.

cancer biology↗

Hidden Diversity of Threatened Sharks and Rays in the Global Meat Trade

International wildlife trade is a major source of biodiversity loss, yet many species lie hidden within aggregated data that conceals trade impacts. We overcome this problem for the largest vertebrate wildlife trade globally - shark and ray meat - comprising 438 538 mt yr-1 across more than 150 species, 76% of which are Threatened. Revealed trade contains greater quantities of skates (+10%), hammerheads (+8%), and smoothhounds, dogfishes & tope (+5%), and fewer pelagic sharks (-38%) than previously known. Shorttail yellownose skate, smoothound, silky, mako, and blue sharks are the most underreported meat species, due to aggregated landings from China, Argentina, Japan, and Indonesia, demonstrating international trade in shark and ray meat as a diverse, pervasive, and previously hidden source of fishing mortality for many threatened species.

ecology↗

Profiling trait and state-like behaviour in pain modulation systems: a role for effective connectivity within endogenous pain control circuits

Endogenous pain modulation systems can be assessed through distinct psychophysical paradigms such as conditioned pain modulation (CPM), temporal summation of pain (TSP), and offset analgesia (OA). Notably, the reliability of these measures has rarely been defined within the same participants, and measures to index the consistency of each measure across sessions and in the same participants are lacking. This study examined the test-retest reliability and intra-individual consistency of CPM, TSP, and OA and explored how CPM response status across sessions relates to neural dynamics within the descending pain modulation system. In 29 healthy participants, CPM, TSP, and OA responses were assessed across two sessions. The normalised session change index (NSCI) was introduced to evaluate consistency of each measure across sessions. Spectral dynamic causal modelling (DCM) of resting-state fMRI (rs-fMRI) investigated effective connectivity within the descending pain modulation network and its association with CPM response status. OA exhibited the highest test-retest reliability and had NSCI values closest to zero, indicating stable responses. CPM and TSP showed poor reliability and NSCI values deviating from zero, reflecting greater variability. Spectral DCM analysis revealed that effective connectivity within the descending pain modulation system explained CPM response variability across sessions. Specifically, consistent strong facilitatory or inhibitory CPM was associated with greater excitatory or inhibitory PAG-to-AI effective connectivity, respectively. These findings suggest that healthy participants either demonstrate stable (i.e. trait-like) or dynamic (i.e. state-like) endogenous pain modulation across repeated sessions which can be explained based on effective connectivity within the descending pain modulation system.

neuroscience↗

Entomological surveys and insecticide susceptibility profile of Aedes aegypti during the dengue outbreak in Sao Tome and Principe in 2022

BackgroundThe first dengue outbreak was reported in Sao Tome and Principe in 2022. This study was undertaken aiming to establish the typology of Aedes larval habitats, the distribution of Ae. aegypti and Ae. albopictus, the related entomological risk and the susceptibility profile of Ae. aegypti to insecticides for a better evidence-informed response. Methodology/Principal FindingsEntomological surveys were performed in all the seven health districts of Sao tome and Principe during the dry and rainy seasons in 2022. WHO tube and synergist assays using piperonyl butoxide (PBO) and diethyl maleate (DEM) were carried out and the genotyping of F1534C/V1016I/V410L mutations in Ae. aegypti. Aedes aegypti and Ae. albopictus were found in all seven health districts of the country with high prevalence of Ae. aegypti in the most urbanised district, Agua Grande. Both Aedes species bred mainly in used tyres, discarded tanks and water storage containers. In both survey periods, the Breteau (BI > 50), house (HI > 35%) and container (CI > 20%) indices were higher than threshold established by WHO to indicate high potential risk of dengue transmission. Aedes aegypti sample was susceptible to all insecticides tested except dichlorodiphenyltrichloroethane (DDT) (9.2% mortality), bendiocarb (61.4% mortality) and alpha-cypermethrin (97% mortality). A full recovery was reported in Ae. aegypti resistant to bendiocarb after pre-exposure to synergist PBO. Only one Ae. aegypti specimen was found carrying F1534C mutation. Conclusions/SignificanceThese findings revealed at high potential risk for dengue transmission throughout the year, with the bulk of larval breeding occurring in used tyres, water storage and discarded containers. Most of the insecticides tested remain effective to control Aedes vectors in Sao Tome except DDT and bendiocarb. These data underline the importance to raise community awareness and to implement routine dengue vector control strategies to prevent further outbreaks in Sao Tome and Principe, and elsewhere in the subregion. Author SummaryDuring the first dengue outbreak reported in Sao Tome and Principe in 2022, entomological investigations were undertaken aiming to establish the typology of Aedes larval habitats, the distribution of Ae. aegypti and Ae. albopictus, the related entomological risk and the susceptibility profile of Ae. aegypti to insecticides for a better evidence-informed response. The results revealed the presence of Ae. aegypti and Ae. albopictus in all seven health districts of the country with high prevalence of Ae. aegypti in the most urbanised district, Agua Grande. Both Aedes species bred mainly in used tyres, discarded tanks and water storage containers suggesting a good waste management and improving water supply system could help to reduce Aedes densities and the risk of dengue transmission. Analyses also revealed that most of the insecticides tested remain effective to control Aedes vectors in Sao Tome except dichlorodiphenyltrichloroethane and bendiocarb. These findings revealed at high potential risk for dengue transmission throughout the year and underline the importance to raise community awareness and to implement routine dengue vector control strategies to prevent further outbreaks in Sao Tome and Principe, and elsewhere in the subregion.

zoology↗

Towards environmental detection, quantification, and molecular characterization of Anopheles stephensi and Aedes aegypti from larval breeding sites

The invasion and establishment of An. stephensi mosquitoes in the Horn of Africa represents a significant regional threat, which may jeopardise malaria control, particularly in urban areas which were formally free from disease transmission. Novel vector surveillance methods are urgently needed, both agnostic to mosquito larval morphology, and simple to implement at the sampling stage. Using new multiplex TaqMan assays, specifically targeting An. stephensi and Ae. aegypti, we validated the use of environmental DNA (eDNA) for simultaneous vector detection in shared artificial breeding sites. Study findings demonstrated that An. stephensi and Ae. aegypti eDNA deposited by as few as one second instar larva in 1L of water was detectable. Characterization of molecular insecticide resistance mechanisms, using novel amplicon-sequencing panels for both vector species, was possible from eDNA shed by as few as 32 second instar larvae in 50ml of water. An. stephensi eDNA, derived from emergent pupae for 24 hours, was remarkably stable, and still detectable ~2 weeks later. eDNA surveillance has the potential to be implemented in local endemic communities and points of country entry, to monitor the spread of invasive vector species. Further studies are required to validate the feasibility of this technique under field conditions.

molecular biology↗

Epigenetic predictors of maximum lifespan and other life history traits in mammals

Maximum lifespan of a species is the oldest that individuals can survive, reflecting the genetic limit of longevity in an ideal environment. Here we report methylation-based models that accurately predict maximum lifespan (r=0.89), gestational time (r=0.96), and age at sexual maturity (r=0.87), using cytosine methylation patterns collected from over 12,000 samples derived from 192 mammalian species. Our epigenetic maximum lifespan predictor corroborated the extended lifespan in growth hormone receptor knockout mice and rapamycin treated mice. Across dog breeds, epigenetic maximum lifespan correlates positively with breed lifespan but negatively with breed size. Lifespan-related cytosines are located in transcriptional regulatory regions, such as bivalent chromatin promoters and polycomb-repressed regions, which were hypomethylated in long-lived species. The epigenetic estimators of maximum lifespan and other life history traits will be useful for characterizing understudied species and for identifying interventions that extend lifespan.

evolutionary biology↗

DNA Methylation Networks Underlying Mammalian Traits

Epigenetics has hitherto been studied and understood largely at the level of individual organisms. Here, we report a multi-faceted investigation of DNA methylation across 11,117 samples from 176 different species. We performed an unbiased clustering of individual cytosines into 55 modules and identified 31 modules related to primary traits including age, species lifespan, sex, adult species weight, tissue type and phylogenetic order. Analysis of the correlation between DNA methylation and species allowed us to construct phyloepigenetic trees for different tissues that parallel the phylogenetic tree. In addition, while some stable cytosines reflect phylogenetic signatures, others relate to age and lifespan, and in many cases responding to anti-aging interventions in mice such as caloric restriction and ablation of growth hormone receptors. Insights uncovered by this investigation have important implications for our understanding of the role of epigenetics in mammalian evolution, aging and lifespan.

evolutionary biology↗

Universal DNA methylation age across mammalian tissues

Aging is often perceived as a degenerative process resulting from random accrual of cellular damage over time. Despite this, age can be accurately estimated by epigenetic clocks based on DNA methylation profiles from almost any tissue of the body. Since such pan-tissue epigenetic clocks have been successfully developed for several different species, we hypothesized that one can build pan-mammalian clocks that measure age in all mammalian species. To address this, we generated data using 11,754 methylation arrays, each profiling up to 36 thousand cytosines in highly-conserved stretches of DNA, from 59 tissue-types derived from 185 mammalian species. From these methylation profiles, we constructed three age predictors, each with a single mathematical formula, termed universal pan-mammalian clocks that are accurate in estimating the age (r>0.96) of any mammalian tissue. Deviations between epigenetic age and chronological age relate to mortality risk in humans, mutations that affect the somatotropic axis in mice, and caloric restriction. We characterized specific cytosines, whose methylation levels change with age across most mammalian species. These cytosines are greatly enriched in polycomb repressive complex 2-binding sites, are located in regions that gradually lose chromatin accessibility with age and are proximal to genes that play a role in mammalian development, cancer, human obesity, and human longevity. Collectively, these results support the notion that aging is indeed evolutionarily conserved and coupled to developmental processes across all mammalian species - a notion that was long-debated without the benefit of this new compelling evidence. SUMMARYThis study identifies and characterizes evolutionarily conserved cytosines implicated in the aging process across mammals and establishes pan mammalian epigenetic clocks.

developmental biology↗

No support for white matter microstructural properties and connectivity differences in the combined and inattentive adhd presentations.

Evidence from functional neuroimaging studies support neural differences between the Attention Deficit Hyperactivity Disorder (ADHD) presentation types. It remains unclear if these neural deficits also manifest at the structural level. We have previously shown that the ADHD combined, and ADHD inattentive types demonstrate differences in graph properties of structural covariance suggesting an underlying difference in neuroanatomical organization. The goal of this study was to examine and validate white matter brain organization between the two subtypes using both scalar and connectivity measures of brain white matter. We used both tract-based spatial statistical (TBSS) and tractography analyses with network-based Statistics (NBS) and graph-theoretical analyses in a cohort of 35 ADHD participants (aged 8-17 years) defined using DSM-IV criteria as combined (ADHD-C) type (n=19) or as predominantly inattentive (ADHD-I) type (n=16), and 28 matched neurotypical controls. We performed TBSS analyses on scalar measures of fractional anisotropy (FA), mean (MD), radial (RD), and axial (AD) diffusivity to assess differences in WM between ADHD types and controls. NBS and graph theoretical analysis of whole brain inter-regional tractography examined connectomic differences and brain network organization, respectively. None of the scalar measures significantly differed between ADHD types or relative to controls. Similarly, there were no tractography connectivity differences between the two subtypes and relative to controls using NBS. Global and regional graph measures were also similar between the groups. A single significant finding was observed for nodal degree between the ADHD-C and controls, in the right insula (corrected p=.029). Our result of no white matter differences between the subtypes is consistent with most previous findings. These findings together might suggest that the white matter structural architecture is largely similar between the DSM-based ADHD presentations.

neuroscience↗