Biology subjects

Soares-Souza, G. B.

Publications and source records attributed to Soares-Souza, G. B..

6 recordsLinked to original sources

bioRxiv2025

Downregulation of the Ca2+ sensor Synaptotagmin-1 (SYT1) in Parkinson's Disease: Insights from Gene Expression Profiling

Parkinsons disease (PD) is a neurodegenerative disease characterized by the progressive loss of dopaminergic neurons and by the intracellular accumulation of alpha-synuclein, leading to motor and non-motor symptoms. Despite being a widely studied disease, so new mechanisms should be investigated as possible paths for future diagnostics and treatments in PD. Here, we performed an in silico analysis of the global gene expression of tissues from different brain regions (prefrontal area, putamen, and substantia nigra) in PD patients and controls, to demonstrate differentially expressed genes (DEGs). We analyzed the dataset series GSE20295 from GEO, which comprises GSE20168, GSE20291, and GSE20292. We identified 13 DEGs, all exhibiting downregulation in PD tissues compared to controls. Notably, the SYT1 (Synaptotagmin-1) gene demonstrated the lowest expression level and nearly the most significant adjusted p-value. SYT1 is implicated in calcium ion sensor activity, a functional domain showing substantial fold enrichment in our study. This gene encodes a protein pivotal for neurotransmitter release at synapses. We also found a significant role of calcium-related processes in PD pathology through GSEA, indicating an overall increase in their activity and a disruption in neurotransmitter release mechanisms mediated by Ca2+. Despite limited research on the correlation between SYT1 and PD to date, our findings suggest the SYT1 gene holds promise as a possible target for PD. Further investigations are needed to elucidate this association fully.

bioinformatics↗

bioRxiv2020

Sex-biased admixture and assortative mating shape genetic variation and influence demographic inference in admixed Cabo Verdeans

Genetic data can provide insights into population history, but first we must understand the patterns that complex histories leave in genomes. Here, we consider the admixed human population of Cabo Verde to understand the patterns of genetic variation left by social and demographic processes. First settled in the late 1400s, Cabo Verdeans are admixed descendants of Portuguese colonizers and enslaved West African people. We consider Cabo Verdes well-studied historical record alongside genome-wide SNP data from 563 individuals from 4 regions within the archipelago. We use genetic ancestry to test for patterns of nonrandom mating and sex-specific gene flow, and we examine the consequences of these processes for common demographic inference methods and for genetic patterns. Notably, multiple population genetic tools that assume random mating underestimate the timing of admixture, but incorporating non-random mating produces estimates more consistent with historical records. We consider how admixture interrupts common summaries of genomic variation such as runs-of-homozygosity (ROH). While summaries of ROH may be difficult to interpret in admixed populations, differentiating ROH by length class shows that ROH reflect historical differences between the islands in their contributions from the source populations and post-admixture population dynamics. Finally, we find higher African ancestry on the X chromosome than on the autosomes, consistent with an excess of European males and African females contributing to the gene pool. Considering these genomic insights into population history in the context of Cabo Verdes historical record, we can identify how assumptions in genetic models impact inference of population history more broadly.

evolutionary biology↗

bioRxiv2020

The genetic structure and adaptation of Andean highlanders and Amazonian dwellers is influenced by the interplay between geography and culture

Western South America was one of the worldwide cradles of civilization. The well known Inca Empire was the tip of the iceberg of a cultural and biological evolutionary process that started 14-11 thousand years ago. Genetic data from 18 Peruvian populations reveal that: (1) The between-population homogenization of the central-southern Andes and its differentiation with respect to Amazonian populations of similar latitudes do not extend northward. Instead, longitudinal gene flow between the northern coast of Peru, Andes and Amazonia accompanied cultural and socioeconomic interactions revealed by archeological studies. This pattern recapitulates the environmental and cultural differentiation between the fertile north, where altitudes are lower; and the arid south, where the Andes are higher, acting as a genetic barrier between the sharply different environments of the Andes and Amazonia (2). The genetic homogenization between the populations of the arid Andes is not only due to migration during the Inca Empire or the subsequent colonial period. It started at least during the earlier expansion of the pre-Inca Wari Empire (600-1000 YBP) (3) This demographic history allowed for cases of positive natural selection in the high and arid Andes vs. the low Amazon tropical forest: in the Andes, HAND2-AS1 (heart and neural crest derivatives expressed 2 antisense RNA1, related with cardiovascular function) and DUOX2 (dual oxidase 2, related to thyroid function and innate immunity) genes; in the Amazon, the gene encoding for the CD45 protein, essential for antigen recognition by T/B lymphocytes in viral-host interaction, consistent with the host-virus arms race hypothesis.

evolutionary biology↗

bioRxiv2019

Identification of suitable reference genes for qPCR expression analysis on the gonads of the invasive mussel Limnoperna fortunei

Limnoperna fortunei -- popularly known as the Golden mussel -- is an aggressive invasive species that has been causing environmental damage and adversely affecting economic sectors dependent on freshwater ecosystems in South America. As a non-model species, knowledge about its biology is very limited, especially molecular mechanisms that contribute to its invasiveness, such as its high reproduction rate. Quantitative PCR (qPCR) is considered the gold standard technique to determine gene expression levels and its accuracy relies on the use of stably expressed reference genes for data normalization and to minimize technical variability. Our goal was to identify reliable reference genes to perform gene expression analysis on the gonads of L. fortunei. The stability of five candidate genes (RPS3, EF1a, HS6ST3B, NAPA and UBE2F) in the gonads of male and female mussels was evaluated by using two algorithms, Bestkeeper and Genorm. Results show that NAPA, UBE2F and RPS3 genes are stable enough to compose a reliable normalization factor for gene expression analyses comparing both sexes. HS6ST3B and NAPA were found to be more stable in female gonads; thus, their application as a normalization factor is preferable for studies limited to female processes only.

molecular biology↗

bioRxiv2019

Gonad transcriptome of golden mussel Limnoperna fortunei reveals potential sex differentiation genes

The golden mussel Limnoperna fortunei is an Asian invasive bivalve that threats aquatic biodiversity and causes economic damage, especially to the hydroelectric sector in South America. Traditional control methods have been inefficient to stop the advance of the invasive mollusk, which currently is found in 40% of Brazilian hydroelectric power plants. In order to develop an effective strategy to stop golden mussel infestations, we need to better understand its reproductive and sexual mechanisms. In this study, we sequenced total RNA samples from male and female golden mussel gonads in the spawning stage. A transcriptome was assembled resulting in 200,185 contigs with 2,250 bp N50 and 99.3% completeness. Differential expression analysis identified 3,906 differentially expressed transcripts between the sexes. We searched for genes related to the sex determination/differentiation pathways in bivalves and model species and investigated their expression profiles in the transcriptome of the golden mussel gonads. From a total of 187 genes identified in the literature, 131 potential homologs were found in the L. fortunei transcriptome, of which 15 were overexpressed in males and four in females. To this group belong gene families relevant to sexual development in various organisms, from mammals to invertebrates, such as Dmrt (doublesex and mab3-related-transcription factor), Sox (SRY-related HMG-box) and Fox (forkhead box).

bioinformatics↗

bioRxiv2019

The draft genome of the invasive coral Tubastraea sp.

Corals have been attracting huge attention due to the impact of climate change and ocean acidification on reef formation and resilience. Nevertheless, some coral species have been spreading very fast, replacing native species and affecting local biodiversity. Despite some focal efforts to understand the biology of these organisms, they remain understudied at the molecular level. This knowledge gap hinders the development of cost-effective strategies for management of invasive species. Here, we present the first Tubastraea sp. genome in one of the most comprehensive biological studies of a coral, that includes morphology, flow cytometry, karyotyping, transcriptomics, genomics, and phylogeny. The Tubastraea sp. genome is organized in 23 chromosome pairs and has 1.4 Gb making it the largest coral and Cnidaria genome sequenced to date. The hybrid assembly using short and long-reads has a N50 of 180,044 pb, 12,320 contigs and high completeness estimated as 91.6% of BUSCO complete genes. We inferred that almost half of the genome consists of repetitive elements, mostly interspersed repeats. Gene content was estimated as about 94,000, a high number that warrants deeper scrutiny. The Tubastraea sp. genome is a fundamental study which promises to provide insights not only about the genetic basis for the extreme invasiveness of this particular coral species, but to understand the adaptation flaws of some reef corals in the face of anthropic-induced environmental disturbances. We expect the data generated in this study will foster the development of efficient technologies for the management of corals species, whether invasive or threatened.

genomics↗