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Biology subjects

Sadowski, M.

Publications and source records attributed to Sadowski, M..

5 recordsLinked to original sources

The geometry of G x E: how scaling and endogenous treatment effects shape interaction direction

Gene-environment interaction (G x E) studies hold promise for identifying genetic loci mediating the effects of environmental risk on disease. However, interpretation of G x E effects is often confounded by two fundamental issues: the dependence of interaction estimates on outcome scale and the presence of endogenous treatment effects, in which genetic liability influences environmental exposure. These factors can induce spurious G x E signals--even when genetic and environmental contributions are purely additive on an unobserved scale. In this work, we demonstrate that any monotone convex transformation of an outcome induces sign-consistent G x E effects: the sign of the interaction term aligns with the sign of the corresponding main genetic effect. We further show that endogenous treatment effects, modeled as threshold-based interventions, generate G x E effects with a similar directional signature. Exploiting this property, we propose a simple diagnostic: sign consistency across G x E estimates can identify artifacts driven by outcome scaling or exposure endogeneity. We validate our framework in the UK Biobank using transcriptome-wide interaction studies (TxEWAS) across multiple trait-environment pairs, observing widespread sign consistency in some settings--suggesting confounding by scaling or treatment bias. Our results provide both a theoretical foundation and a practical tool for interpreting G x E findings, enabling researchers to distinguish biologically meaningful interactions from those induced by statistical artifacts.

genetics↗

The deep-sea coral, Callogorgia delta, associates with bacteria belonging to a novel marine branch of the Mollicutes

Microbes perform critical functions in corals yet most knowledge is derived from the photic zone. Here, we discovered two mollicutes that dominate the microbiome of the deep-sea octocoral, Callogorgia delta, and reside in the mesoglea. These symbionts were abundant across the hosts range, absent in the water, and rare in sediments. The symbionts lack all known fermentative capabilities including glycolysis and can only generate energy from arginine provided by the coral host. Their genomes feature extensive mechanisms to interact with foreign DNA which may be indicative of their role in symbiosis. We erect the novel family Oceanoplasmataceae which includes these symbionts and others associated with four marine invertebrate phyla. Its exceptionally broad host range suggests that the diversity of this enigmatic family remains largely undiscovered. Oceanoplasmataceae genomes are the most highly reduced among mollicutes providing new insight into their reductive evolution and the roles of coral symbionts.

microbiology↗

Fidelity varies in the symbiosis between a gutless marine worm and its microbial consortium

In obligate symbioses, partner fidelity plays a central role in maintaining the association over evolutionary time. Fidelity has been well studied in hosts with only a few symbionts, but little is known about how fidelity is maintained in obligate associations with multiple co-occurring symbionts. Here, we show that partner fidelity varies from strict to absent in a gutless marine annelid and its consortium of co-occurring symbionts that provide it with nutrition. We sequenced the metagenomes of 80 Olavius algarvensis individuals from the Mediterranean, and compared host mitochondrial and symbiont phylogenies based on single nucleotide polymorphisms across genomes, using a low-coverage sequencing approach that has not yet been applied to microbial community analyses. Fidelity was strongest for the two chemoautotrophic, sulphur-oxidizing symbionts that dominated the microbial consortium in all host individuals. In contrast, fidelity was only intermediate to absent in the sulphate-reducing and spirochaetal symbionts, which occurred in lower abundance and were not always present in all host individuals. We propose that variable degrees of fidelity are advantageous for these hosts by allowing the faithful transmission of their nutritionally most important symbionts and flexibility in the acquisition of other symbionts that promote ecological plasticity in the acquisition of environmental resources.

microbiology↗

Metabolic plasticity in cancer activates apocryphal pathways for lipid desaturation

Fatty acid (FA) modifications, such as enzymatic desaturation and elongation, have long been thought to involve sequential and highly specific enzyme-substrate interactions, which result in canonical products that are well-defined in their chain lengths, degree of unsaturation and double bond positions.1 These products act as a supply of building blocks for the synthesis of complex lipids supporting a symphony of lipid signals and membrane macrostructure. Recently, it was brought to light that differences in substrate availability due to enzyme inhibition can activate alternative pathways in a range of cancers, potentially altering the total species repertoire of FA metabolism.2,3 We have used isomer-resolved lipidomics to analyse human prostate tumours and cancer cell lines and reveal, for the first-time, the full extent of metabolic plasticity in cancer. Assigning the double bond position(s) in simple and complex lipids allows mapping of fatty acid desaturation and elongation via hitherto apocryphal metabolic pathways that generate FAs with unusual sites of unsaturation. Downstream utilisation of these FAs is demonstrated by their incorporation into complex structural lipids. The unsaturation profiles of different phospholipids reveal substantive structural variation between classes that will, necessarily, modulate lipid-centred biological processes in cancer cells including membrane fluidity3-5 and signal transduction.6-8

biochemistry↗

Spatial Chromatin Architecture Alteration by Structural Variations in Human Genomes at Population Scale

This genome-wide study is focused on the impact of structural variants identified in individuals from 26 human populations onto three-dimensional structures of their genomes. We assess the tendency of structural variants to accumulate in spatially interacting genomic segments and design a high-resolution computational algorithm to model the 3D conformational changes resulted by structural variations. We show that differential gene transcription is closely linked to variation in chromatin interaction networks mediated by RNA polymerase II. We also demonstrate that CTCF-mediated interactions are well conserved across population, but enriched with disease-associated SNPs. Altogether, this study assesses the critical impact of structural variants on the higher order organization of chromatin folding and provides unique insight into the mechanisms regulating gene transcription at the population scale, among which the local arrangement of chromatin loops seems to be the leading one. It is the first insight into the variability of the human 3D genome at the population scale.

genomics↗