Biology subjects

Aubert, G.

Publications and source records attributed to Aubert, G..

7 recordsLinked to original sources

bioRxiv2026

Disease-associated MYH11 tail variants disrupt vascular smooth muscle myosin II filament dynamics and cell mechanics

Smooth muscle myosin II (SMII), encoded by MYH11, is the principal motor driving vascular smooth muscle cell (VSMC) contraction. How disease-associated MYH11 variants alter SMII behavior in living cells remains poorly understood. We directly visualized two human MYH11 tail variants in VSMCs: pathogenic K1256del and a variant of uncertain significance A1839V, identified in a patient with severe aortoiliac aneurysmal disease. Both variants reduced SMII filament assembly and VSMC contractile output, but with distinct severity. A1839V predominantly retained filamentous organization and displayed partial agonist-induced stabilization, consistent with an intermediate cellular phenotype. In contrast, K1256del severely disrupted filament architecture and behavior, including reduced focal adhesion organization, increased SMII network flow and accelerated filament exchange. Furthermore, K1256del abolished the filament stabilization response to induced contraction. These findings identify failure of SMII filament stabilization as a cellular mechanism linking MYH11 variation to impaired VSMC mechanics. More broadly, they show that direct live-cell phenotyping can distinguish variant-specific defects in the contractile machinery, providing a scalable functional strategy to complement genetic classification and prioritize MYH11 variants for deeper mechanistic and in vivo study.

cell biology↗

bioRxiv2025

Combining phenomic and genomic selection for pea breeding improvement

Pea (Pisum sativum L.) is a strategic crop in the development of sustainable agriculture. However, the genetic gain remains limited despite advances in breeding. Genomic selection holds promise to accelerate varietal improvement, but its high implementation cost restricts its use in crops. Phenomic selection, based on near-infrared spectroscopy data, is a cost-effective alternative demonstrated in various crops, but not yet undertaken in pea. This study aims to assess the predictive ability of phenomic selection, alone and combined with genomic selection, for yield-related traits in a panel of elite spring pea lines evaluated across twelve environments. Three cross-validation scenarios were implemented to simulate predictions across different years and locations. Our results show that phenomic prediction is as effective as genomic selection at predicting yield, and is more accurate for seed protein content. The integrative model, combining spectral and molecular data, consistently achieved the highest accuracy for most traits, particularly for complex traits such as grain yield and seed protein. In temporal prediction scenarios, the most accurate predictions were obtained using the spectra data from the same year as phenotyping. In spatial prediction scenarios, predictive accuracy varied by site and year, nevertheless, integrative phenomic-genomic models consistently outperformed univariate approaches. These findings confirm the potential of phenomic selection in pea and underscore the added value of combining near-infrared spectroscopy and genotyping data to improve the prediction of complex traits in breeding programs. In the face of increasing environmental variability, the integrative approach offers a valuable tool for accelerating genetic gain. Key messageThe integration of spectral data into prediction models enhances the predictive ability for complex traits in pea.

genetics↗

bioRxiv2023

afila, the origin and nature of a major innovation in the history of pea breeding

The afila (af) mutation of Pisum sativum L. (pea) is characterised by leaves that are composed of a basal pair of stipules, a petiole and a branched mass of tendrils. These are bipinnate leaves in which the leaflet primordia are replaced by midrib-like, or terminal tendril, primordia. The phenotype was first reported as a spontaneous mutation in 1953, and several reports of spontaneously occurring af mutants and induced mutations have been published since then. Despite its wide-scale introgression to improve standing ability in combine-harvested dry pea crops, the molecular basis of af has remained unknown. Here, we show that the deletion of two tandemly-arrayed Q-type Cys(2)His(2)-zinc finger transcription factors, viz. PsPALM1a and PsPALM1b, is responsible for the af phenotype. Based on molecular evidence for the presence/absence of seven consecutive pea genes, we identified eight haplotypes in the genomic region of chromosome 2 that harbours af. These haplotypes differ in the presence or absence of PsPALM1a-b and close genes and in the size of the deletion. Representative cultivars and spontaneous or induced mutants were assigned to the different haplotypes. The hitherto unrecognised diversity at the af locus reveals highly rich, unexplored, potential for pea improvement and sheds light on the breeding history of pea. This knowledge can also be used to breed innovative cultivars in related crops.

genetics↗

bioRxiv2022

The giant diploid faba genome unlocks variation in a global protein crop

Increasing the proportion of locally produced plant protein in currently meat-rich diets could substantially reduce greenhouse gas emission and loss of biodiversity. However, plant protein production is hampered by the lack of a cool-season legume equivalent to soybean in agronomic value. Faba bean (Vicia faba L.) has a high yield potential and is well-suited for cultivation in temperate regions, but genomic resources are scarce. Here, we report a high-quality chromosome-scale assembly of the faba bean genome and show that it has grown to a massive 13 Gb in size through an imbalance between the rates of amplification and elimination of retrotransposons and satellite repeats. Genes and recombination events are evenly dispersed across chromosomes and the gene space is remarkably compact considering the genome size, though with significant copy number variation driven by tandem duplication. Demonstrating practical application of the genome sequence, we develop a targeted genotyping assay and use high-resolution genome-wide association (GWA) analysis to dissect the genetic basis of hilum colour. The resources presented constitute a genomics-based breeding platform for faba bean, enabling breeders and geneticists to accelerate improvement of sustainable protein production across Mediterranean, subtropical, and northern temperate agro-ecological zones.

plant biology↗

bioRxiv2021

Genetic, parental and lifestyle factors influence telomere length

The average length of telomere repeats (TL) declines with age and is considered to be a marker of biological ageing. Here, we measured TL in six blood cell types from 1,046 individuals using the clinically validated Flow-FISH method. We identified remarkable cell-type-specific variations in TL. Host genetics, environmental, parental and intrinsic factors such as sex, parental age, and smoking are associated to variations in TL. By analysing the genome-wide methylation patterns, we identified that the association of maternal, but not paternal, age to TL is mediated by epigenetics. Coupling these measurements to single-cell RNA-sequencing data for 62 participants revealed differential gene expression in T-cells. Genes negatively associated with TL were enriched for pathways related to translation and nonsense-mediated decay. Altogether, this study addresses cell-type-specific differences in telomere biology and its relation to cell-type-specific gene expression and highlights how perinatal factors play a role in determining TL, on top of genetics and lifestyle.

cell biology↗

bioRxiv2021

LXR agonist Prevents Peripheral Neuropathy and modifies PNS immune cells in Aged Mice

Peripheral neuropathy is a common and progressive disorder in the elderly that interferes with daily activities and increases the risk of injury. It is of importance to find efficient treatments to treat or delay this age-related neurodegeneration. We previously demonstrated that activation of the cholesterol sensor Liver X receptor (LXR) with the potent agonist GW3965, alleviates pain in a diet-induced obesity model. Because cholesterol had also been linked to neuropathy during aging, we sought to test whether LXR activation may improve neuropathy and pain in aged mice by treating 21-month-old mice for 3 months with GW3965. Treatment resulted in a significant increase in nerve fibers of the sub-basal plexus, accompanied by a change in polarization, metabolism, and cholesterol content of macrophages in the sciatic nerve. These results suggest that activation of the LXR may block the progression of neuropathy associated with aging by modifying nerve-immune cell cholesterol, thereby providing new pathways to target in efforts to delay neuropathy during aging.

neuroscience↗

bioRxiv2021

Defining the components of the miRNA156-SPL-miR172 aging pathway in pea and their expression relative to changes in leaf morphology

The timing of developmental phase transitions is crucial for plant reproductive success, and two microRNAs (miRNA), miR156 and miR172, are implicated in the control of these changes, together with their respective SQUAMOSA promoter binding-like (SPL) and APETALA2 (AP2)-like targets. While their patterns of regulation have been studied in a growing range of species, to date they have not been examined in pea (Pisum sativum), an important legume crop and model species. We analysed the recently-released pea genome and defined nine miR156, 21 SPL, four miR172, and five AP2-like genes. Phylogenetic analysis of the SPL genes in pea, Medicago and Arabidopsis confirmed the eight previously defined clades, and identified a ninth potentially legume-specific SPL clade in pea and Medicago. Among the PsSPL, 14 contain a miR156 binding site and all five AP2-like transcription factors in pea include a miR172 binding site. Phylogenetic relationships, expression levels and temporal expression changes identified PsSPL2a/3a/3c/6b/9a/9b/13b/21, PsmiR156d/j and PsmiR172a/d as the most likely of these genes to participate in phase change in pea. Comparisons with leaf morphology suggests that vegetative phase change is unlikely to be definitively marked by a change in leaflet number. In addition, the timing of FT gene induction suggests that the shift from the juvenile to the adult vegetative phase may occur within fourteen days in plants grown under inductive conditions, and calls into question the contribution of miR172/AP2 to the floral transition. This work provides the first insight into the nature of vegetative phase change in pea, and an important foundation for future functional studies.

plant biology↗