Vanessa Rodrigues Paixão-Côrtes

Universidade Federal da Bahia · Institute of Biology

The identification of thalidomide–Cereblon-induced SALL4 degradation has brought new understanding for thalidomide embryopathy (TE) differences across species. Some questions, however, regarding species variability, still remain. The aim of this study was to detect sequence divergences between species, affected or not by TE, and to evaluate the reg...

Prolactin (PRL) is a pleiotropic neurohormone secreted by the mammalian pituitary gland into the blood, thus reaching many tissues and organs beyond the brain. PRL binds to its receptor, PRLR, eliciting a molecular signaling cascade. This system modulates essential mammalian behaviors and promotes notable modifications in the reproductive female ti...

Abstract MicroRNAs (miRNAs) play an important regulatory role in the expression of genes involved in brain functions during development. Genetic variants in miRNA genes may impact their regulatory function and lead to psychiatric disorders. Objectives: To evaluate the role of genetic variants in genes of miRNAs differentially expressed during neuro...

The purpose of this study is to evaluate the effects of Methylphenidate exposure on mice odontogenesis and connect them by bioinformatics with human odontogenesis. Thirty-two pregnant Swiss mice were divided into treated group and control group, which received, respectively, 5 mg/kg of Methylphenidate and saline solution from the 5th to the 17th da...

Despite worldwide research efforts since 2015, Zika virus infection and its consequences are not fully understood yet. Nowadays, it is known that microcephaly is only one of the possible outcomes of being infected by ZIKV during the early stages of life. Musashi 1 (MSI1) is an RNA-binding protein that is involved in neurodevelopmental processes. Al...

The Cereblon-CRL4 complex has been studied predominantly with regards to thalidomide treatment of multiple myeloma. Nevertheless, the role of Cereblon-CRL4 in Thalidomide Embryopathy (TE) is still not understood. Not all embryos exposed to thalidomide develop TE, hence here we evaluate the role of the CRL4-Cereblon complex in TE variability and sus...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, with strong genetic influences as evidenced by its high heritability. Submicroscopic variations (ranging from one kilobase to several megabases) in DNA, called copy number variations (CNVs), have been associated with psychiatric diseases, including ASD. We aimed to identify CNVs in ch...

Platyrrhini (New World monkeys, NWm) are a group of primates characterized by behavioral and reproductive traits that are otherwise uncommon among primates, including social monogamy, direct paternal care, and twin births. As a consequence, the study of Platyrrhine primates is an invaluable tool for the discovery of the genetic repertoire underlyin...

The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a “rumor strategy” based on anecdotal accounts. All rumors and reports were validated in a stepwi...

Establishing the genetic basis that underlies craniofacial variability in natural populations is one of the main topics of evolutionary and developmental studies. One of the genes associated with mammal craniofacial variability is RUNX2, and in the present study we investigated the association between craniofacial length and width and RUNX2 across...

Here we aimed to unravel the relationship between gene expression breadth and evolutionary rates of serotonergic genes in a set of chordates.

Domestication is of unquestionable importance to the technological revolution that has given rise to modern human societies. In this study, we analyzed the DNA and protein sequences of six genes of the oxytocin and arginine vasopressin systems (OXT-OXTR; AVP-AVPR1a, AVPR1b and AVPR2) in 40 placental mammals. These systems play an important role in...

Hominin evolution is characterized by adaptive solutions often rooted in behavioral and cognitive changes. If balancing selection had an important and long-lasting impact on the evolution of these traits, it can be hypothesized that genes associated with them should carry an excess of shared polymorphisms (trans- SNPs) across recent Homo species. I...

- Percentiles of the distribution of the mean values of polymorphism per gene.

Density distribution of the average number of polymorphisms per gene.

- GO terms used for target genes playing a role in immune and behavioral systems.

- Target genes that could not be matched to at least one similar gene in the exome.

- Polymorphisms shared between Neanderthals and modern humans.

- Polymorphisms shared between Neanderthals and modern humans, including sites within CpG sites.

- Phylogenetic trees of 26 species of mammals used in OXT analysis, 1: mirrored tree, 2: phylogenetic tree.

- OXT-AVP system amino acid positions with moderately radical or radical changes according to the Grantham Score (GS > 101).

Alignment analyses - Alignments (1-6) used in the analyses of the different species of wild and domesticated mammals.

- Estimated parameters under different codon substitution models for OXT and AVP system genes.

- Species of wild and domestic placental mammals available in genome data banks and used in the analyses.

- Results of the Clade D analysis.

- Phylogenetic trees of 26 species of mammals used in AVP analysis, 1: mirrored tree, 2: phylogenetic tree.

- Phylogenetic trees of 26 species of mammals used in AVPR1a analysis, 1: mirrored tree, 2: phylogenetic tree.

- Phylogenetic trees of 26 species of mammals used in AVPR1b analysis, 1: mirrored tree, 2: phylogenetic tree.

- Phylogenetic trees of 26 species of mammals used in AVPR2 analysis, 1: mirrored tree, 2: phylogenetic tree.

- Phylogenetic trees of 26 species of mammals used in OXTR analysis, 1: mirrored tree, 2: phylogenetic tree.

The Zika Virus (ZIKV) outbreak and epidemics in the Americas, on late 2015, posed a serious public health threat, and a global alarm due to its associated congenital fetal anomalies following infection in pregnant women. Being an emerging disease, it prompted health professionals and scientists to understand the mechanisms of disease progression an...

Significance Several forms of the oxytocin neurohormone have been found in New World monkeys (NWMs). Previous research has suggested an association between these forms and behaviors typical of this primate branch, including paternal care and monogamy. Our study provides genetic, pharmacological, behavioral, and in silico evidence supporting this co...

Objectives: To determine genetic differences between agriculturalist and hunter-gatherer southern Native American populations for selected metabolism-related markers and to test whether Neel's thrifty genotype hypothesis (TGH) could explain the genetic patterns observed in these populations. Materials and methods: 375 Native South American indiv...

The FOXP subfamily is probably the most extensively characterized subfamily of the forkhead superfamily, playing important roles in development and homeostasis in vertebrates. Intrinsically disorder protein regions (IDRs) are protein segments that exhibit multiple physical interactions and play critical roles in various biological processes, includ...

Paternal care is a complex social behavior common in primate species with socially monogamous mating systems and twin births. Evolutionary causes and consequences of such behavior are not well understood, nor are their neuroendocrine and genetic bases. However, the neuropeptide oxytocin (OXT) and its receptor (OXTR) are associated with parental car...

- List of Tetrapoda species and the respective sequence codes retrieved for each of the FOXP subfamily members studied.

- Ordered regions of FOXP1 orthologues.

- Whole protein comparison for FOXP3 linear motifs content.

- Whole protein comparison for FOXP4 linear motifs content.

- Disorder proportion of FOXP4.

- Ordered regions of FOXP4.

- Whole protein comparison for FOXP1 linear motifs content.

- Whole protein comparison for FOXP2 linear motifs content.

- Branch site model for FOXP genes.

- Ordered regions of FOXP2 orthologues.

- Disorder proportion of FOXP1 orthologues.

- Disorder proportion of FOXP2 orthologues.

- Disorder proportion of FOXP3 orthologues.

- Ordered regions of FOXP3 orthologues.

- Estimated parameters under different codon substitution models for forkhead P subfamily genes.

- Eukaryotic linear motifs and their functions.

Oxytocin receptor (OXTR) and arginine vasopressin receptors (AVPR1a, AVPR1b, and AVPR2) are paralogous genes that emerged through duplication events; along the evolutionary timeline, owing to speciation, numerous orthologues emerged as well. In order to elucidate the evolutionary forces that shaped these four genes in placental mammals and to revea...

Although new candidate genes for Autism Spectrum Disorder (ASD), Schizophrenia (SCZ), Attention-Deficit/Hyperactivity Disorder (ADHD), and Bipolar Disorder (BD) emerged from genome-wide association studies (GWAS), their underlying molecular mechanisms remain poorly understood. Evidences of the involvement of intrinsically disordered proteins in dis...

Several autism spectrum disorders (ASD) exome studies suggest that coding single nucleotide variants (SNVs) play an important role on ASD etiology. Usually, the pathogenic effect of missense mutations is estimated through predictors that lose accuracy for those SNVs placed in intrinsically disordered regions of protein. Here, we used bioinformatics...

- Species included in the analyses.

- Disorder content within OXTR domains.

- Estimated parameters under different codon substitution models.

- Disorder content within AVPR2 domains

- Mann-Whitney test results for AVPR2 C-terminal regions with regard to their intrinsic disorder degree content.

- Amino acid changes at the AVPR2 positions positionsand probability of being under positive selection and/or having relaxed functional constraints.

- Amino acid changes at AVPR1b positions and probability of being under positive selection and/or having relaxed functional constraints.

- Disorder content within AVPR1a domains.

- Phylogenetic tree topology used in the analysis of molecular evolution.

- Disorder content within AVPR1b domains

- Amino acid changes at the AVPR1a positions and probability of being under positive selection and/or having relaxed functional constraints.

- Short linear interaction motifs (SLiMs) predicted for AVPR1a, AVPR1b, and AVPR2.

N-acetyltransferase 2 (NAT2) is responsible for metabolizing xenobiotics; NAT2 polymorphisms lead to three phenotypes: rapid, intermediate and slow acetylators. We aimed to investigate NAT2 diversity in Native Americans. NAT2 exon 2 was sequenced for 286 individuals from 21 populations (Native American and American Mestizos). Excluding the basal/ra...

N-acetyltransferase 2 (NAT2) is responsible for metabolizing xenobiotics; NAT2 polymorphisms lead to three phenotypes: rapid, intermediate and slow acetylators. We aimed to investigate NAT2 diversity in Native Americans. NAT2 exon 2 was sequenced for 286 individuals from 21 populations (Native American and American Mestizos). Excluding the basal/ra...

The paired box (PAX) family of transcription/developmental genes plays a key role in numerous stages of embryonic development, as well as in adult organogenesis. There is evidence linking the acquisition of a paired-like DNA binding domain (PD) to domestication of a Tc1/mariner transposon. Further duplication/deletion processes led to at least five...

Significance It was previously believed that placental mammals present no variability in oxytocin (OXT). The present study reports novel data on the diversity of OXT and its receptor ( OXTR ) in primate species, including New World monkeys. Contrary to prior expectations, we found three novel OXT forms and several OXTR nonsynonymous changes not pre...

Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we invest...

Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domai...

Paired box (PAX) genes are transcription factors that play important roles in embryonic development. Although the PAX gene family occurs in animals only, it is widely distributed. Among the vertebrates, its 9 genes appear to be the product of complete duplication of an original set of 4 genes, followed by an additional partial duplication. Although...

Pairwise distances between the PAX subfamilies and the outgroup PAX sea squirt. (DOCX)

PAX2, PAX5 , and PAX8 gene subfamilies phylogeny based on the Bayesian Monte Markov Chain method. (JPG)

Description and functions of PAX genes. (DOCX)

Species considered in this study and font of hits. (XLSX)

Presence of PAX genes in 188 Chordate species. (XLSX)

The availability of the full genomes of Homo sapiens, Homo neanderthalensis, and Denisovans, as well as modern bioinformatic tools, are opening new possibilities for the understanding of the differences and similarities present in these taxa. We searched for cognitive genes, examined their status in the genomes of these three entities. All substitu...

Adaptive variation in the melanocortin 1-receptor gene (MC1R), a key locus in melanogenesis, has been identified in some species of rodents. However, in others, MC1R has no causative role in pigmentation phenotypes despite their coat color variation. In this study, we characterized the rates and patterns of MC1R nucleotide and amino acid sequence e...