Biology subjects

Rio, S.

Publications and source records attributed to Rio, S..

4 recordsLinked to original sources

bioRxiv2025

A methodological framework for assessing neural control of shoulder muscles during multi-directional isometric tasks using high-density surface electromyography.

The complex function of the shoulder relies on the coordinated activation of small and large muscles, including the deltoid, pectoralis major, trapezius, and latissimus dorsi. However, detailed knowledge of their neuromuscular control remains limited. This study aimed to develop a methodological framework to investigate the neural control of the larger superficial shoulder muscles by combining a six-degree-of-freedom load cell attached to a robotic arm with high-density surface electromyograms (HDsEMG). Six healthy participants performed isometric contractions (abduction, adduction, flexion, and extension) at 30% of maximal voluntary contraction with the shoulder positioned at 30{degrees} and 65{degrees} of lateral abduction. HDsEMGs were recorded from the four muscles and analysed at the global activation, spatial distribution of activation and motor unit levels. Global activation was quantified using averaged normalized root-mean-square (RMS) amplitude and spatial distribution using coefficient of variation of the topographic maps. Moreover, HDsEMGs were decomposed into individual motor unit spike trains using convolutive blind source separation, and motor unit behaviour was characterized by mean discharge rate and spatial distribution of motor unit action potentials (MUAPs). RMS maps revealed action-specific activation within and between muscles, with the upper trapezius active across all tasks, while the anterior, middle, and posterior deltoid, clavicular pectoralis major, and latissimus dorsi were predominantly activated during abduction, flexion, and extension. Motor unit discharge rate also showed task-dependent activity. MUAP spatial distributions further showed distinct motor unit territories within arrays, suggesting region-specific recruitment strategies across actions. In conclusion, this framework demonstrates that individual motor unit activity can be reliably measured non-invasively in the superficial shoulder muscles. The approach provides a methodological basis for novel incorporation of neural control information into biomechanical models of shoulder function.

neuroscience↗

bioRxiv2025

HaploCharmer: a Snakemake workflow for read-scale haplotype calling adapted to polyploids

The advent of next-generation sequencing (NGS) has revolutionized the study of single nucleotide polymorphisms (SNPs), making it increasingly cost-effective. Haplotypes, which combine alleles from adjacent variants, offer several advantages over bi-allelic SNPs, including enhanced information content, reduced dimensionality, and improved statistical power in genomic studies. These benefits are particularly significant for polyploid species, where distinguishing all homologous copies using SNP markers alone can be challenging. This article introduces HaploCharmer, a flexible workflow designed for read-scale haplotype calling from NGS data. HaploCharmer identifies haplotypes within preconfigured genomic regions smaller than a sequencing read, ensuring direct comparability across individuals. It integrates a series of processing steps including mapping, haplotype identification, filtration, and reporting of haplotype sequences, as presence-absence, in the panel of accessions analyzed. The performance of HaploCharmer was validated by building a genetic map using whole-genome sequencing data from a highly polyploid sugarcane cultivar (R570) and its self-progeny, and performing a diversity analysis in the polyploid Saccharum genus using targeted sequencing data. The workflow successfully identified a large number of high-quality haplotypes, with less than 1% of false positives. The dense genetic map obtained using single-dose haplotypes accurately depicted the known genome architecture of the R570 cultivar, including large chromosome rearrangements. The diversity analysis accurately reflected the known genetic structure within this genus. It also allowed inferring ancestral origins to mapped haplotypes and the corresponding chromosome segments in the R570 genetic map. HaploCharmer provides a robust method for diversity, genetic mapping, and quantitative genetics studies in both diploid and polyploid species.

bioinformatics↗

bioRxiv2022

Detecting directional and non-directional epistasis in bi-parental populations using genomic data

Epistasis, commonly defined as interaction effects between alleles of different loci, is an important genetic component of the variation of phenotypic traits in natural and breeding populations. In addition to its impact on variance, epistasis can also affect the expected performance of a population and is then referred to as directional epistasis. Before the advent of genomic data, the existence of epistasis (both directional and non-directional) was investigated based on complex and expensive mating schemes involving several generations evaluated for a trait of interest. In this study, we propose a methodology to detect the presence of epistasis based on simple inbred bi-parental populations, both genotyped and phenotyped, ideally along with their parents. Thanks to genomic data, parental proportions as well as shared parental proportions between inbred individuals can be estimated. They allow the evaluation of epistasis through a test of the expected performance for directional epistasis or the variance of genetic values. This methodology was applied to two large multi-parental populations, i.e., the American maize and soybean nested association mapping populations, evaluated for different traits. Results showed significant epistasis, especially for the test of directional epistasis, e.g., the increase in anthesis to silking interval observed in most maize inbred progenies or the decrease in grain yield observed in several soybean inbred progenies. In general, the effects detected suggested that shuffling allelic assocations of both elite parents had a detrimental effect on the performance of their progeny. This methodology is implemented in the EpiTest R-package and can be applied to any bi-/multi-parental inbred population evaluated for a trait of interest.

genetics↗

bioRxiv2019

Disentangling group specific QTL allele effects from genetic background epistasis using admixed individuals in GWAS: an application to maize flowering

When handling a structured population in association mapping, group-specific allele effects may be observed at quantitative trait loci (QTLs) for several reasons: (i) a different linkage disequilibrium (LD) between SNPs and QTLs across groups, (ii) group-specific genetic mutations in QTL regions, and/or (iii) epistatic interactions between QTLs and other loci that have differentiated allele frequencies between groups. We present here a new genome-wide association (GWAS) approach to identify QTLs exhibiting such group-specific allele effects. We developed genetic materials including admixed progeny from different genetic groups with known genome-wide ancestries (local admixture). A dedicated statistical methodology was developed to analyze pure and admixed individuals jointly, allowing one to disentangle the factors causing the heterogeneity of allele effects across groups. This approach was applied to maize by developing an inbred \"Flint-Dent\" panel including admixed individuals that was evaluated for flowering time. Several associations were detected revealing a wide range of configurations of allele effects, both at known flowering QTLs (Vgt1, Vgt2 and Vgt3) and new loci. We found several QTLs whose effect depended on the group ancestry of alleles while others interacted with the genetic background. The existence of directional epistasis was highlighted by comparing admixed with pure individuals and was consistent with epistatic interactions identified at the level of QTLs. Our GWAS approach provides useful information on the stability of QTL effects across genetic groups and can be applied to a wide range of species.\n\nAuthor summaryIdentification of genomic regions involved in genetic architecture of traits has become commonplace in quantitative genetics studies. Genetic structure is a common feature in human, animal and plant species and most current methods target genomic regions whose effects on traits are conserved between genetic groups. However, a heterogeneity of allele effects may be observed due to different factors: a group-specific correlation between the alleles of the tagged marker and those of the causal variant, a group-specific mutation at the causal variant or an epistatic interaction between the causal variant and the genetic background. We propose a new method adapted to structured populations including admixed individuals, which aims to identify these genomic regions and to unravel the previous factors. method was applied to a maize inbred diversity panel including lines from the dent and the flint genetic groups, as well as admixed lines, evaluated for flowering time. Several genomic regions were detected with various configurations of allele effects, with evidence of epistatic interactions between some of the loci and the genetic background.

genetics↗