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The coronavirus disease 2019 (COVID-19) mortality rates varied among the states of Brazil during the course of the pandemics. The human leukocyte antigen (HLA) is a critical component of the antigen presentation pathway. Individuals with different HLA genotypes may trigger different immune responses against pathogens, which could culminate in different COVID-19 responses. HLA genotypes are variable, especially in the highly admixed Brazilian population. In this ecological study, we aimed to investigate the correlation between HLA haplotypes and the different regional distribution of COVID-19 mortality in Brazil. HLA data was obtained from 4,148,713 individuals registered in The Brazilian Voluntary Bone Marrow Donors Registry. COVID-19 data was retrieved from epidemiological bulletins issued by State Health Secretariats via Brazil's Ministry of Health from February/2020 to July/2022. We found a positive significant correlation between the HLA-A*01~B*08~DRB1*03 haplotype and COVID-19 mortality rates when we analyzed data from 26 states and the Federal District. This result indicates that the HLA-A*01~B*08~DRB1*03 haplotype may represent an additional risk factor for dying due to COVID-19. This haplotype should be further studied in other populations for a better understanding of the variation in COVID-19 outcomes across the world.
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Medula Óssea , COVID-19 , Humanos , Haplótipos , Brasil/epidemiologia , Frequência do Gene , Antígenos HLA-B/genética , COVID-19/genética , Cadeias HLA-DRB1/genética , Alelos , Antígenos HLA/genética , Antígenos HLA-A/genéticaRESUMO
We report the occurrence of an invasive alien species, palometa Serrasalmus maculatus, in the Patos Lagoon drainage. Primary occurrence data were based on three specimens captured and preserved as vouchers in scientific collections. Additionally, we searched for secondary records from unpublished scientific sources, public agencies reports and media news to find additional reports. We discussed the possible pathways of invasion, suggesting as the vector of introduction transpositions from the Uruguay River basin. Ecological implications for ichthyofauna, environmental impacts and risk of other events of invasion in the adjoining basins are discussed.
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Caraciformes , Perciformes , Animais , Brasil , Rios , Espécies IntroduzidasRESUMO
The Atlantic spotted dolphin (Stenella frontalis) is endemic to tropical, subtropical, and warm temperate waters of the Atlantic Ocean. Throughout its distribution, both geographic distance and environmental variation may contribute to population structure of the species. In this study, we follow a seascape genetics approach to investigate population differentiation of Atlantic spotted dolphins based on a large worldwide dataset and the relationship with marine environmental variables. The results revealed that the Atlantic spotted dolphin exhibits population genetic structure across its distribution based on mitochondrial DNA control region (mtDNA-CR) data. Analyses based on the contemporary landscape suggested, at both the individual and population level, that the population genetic structure is consistent with the isolation-by-distance model. However, because geography and environmental matrices were correlated, and because in some, but not all analyses, we found a significant effect for the environment, we cannot rule out the addition contribution of environmental factors in structuring genetic variation. Future analyses based on nuclear data are needed to evaluate whether local processes, such as social structure and some level of philopatry within populations, may be contributing to the associations among genetic structure, geographic, and environmental distance.
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Golfinhos , Stenella , Animais , Oceano Atlântico , DNA Mitocondrial/genética , Humanos , Estrutura Social , Stenella/genéticaRESUMO
OBJECTIVES: The aim of this study was to create a comprehensive summary of available mtDNA and Y-chromosome data for Native Americans from North, Central, and South America, including both modern and ancient DNA. To illustrate the usefulness of this dataset we present a broad picture of the genetic variation for both markers across the Americas. METHODS: We searched PubMed, ResearchGate, Google Scholar for studies about mtDNA or Y-chromosome variation in Native American populations, including geographic, linguistic, ecological (ecoregion), archeological and chronological information. We used AMOVA to estimate the genetic structure associated with language and ecoregion grouping and Mantel tests to evaluate the correlation between genetic and geographic distances. RESULTS: Genetic data were obtained from 321 primary sources, including 22,569 individuals from 298 contemporary populations, and 3628 individuals from 202 archeological populations. MtDNA lineages of probable non-Amerindian origin were rare, in contrast with Y-chromosome lineages. Mantel tests showed a statistically significant correlation for the whole continent considering mtDNA but not the Y-chromosome. Genetic structure between groups was always stronger for mtDNA than for the Y-chromosome. CONCLUSIONS: This study summarizes decades of research conducted in Native American populations for both mtDNA and the Y-chromosome. Continental or sub-continental patterns of variation reveal that most of the genetic variation occurs within populations rather than among linguistic or ecoregional groups, and that isolation by distance is barely detectable in most population sets. The genetic structure among groups was always larger for mtDNA than for the Y-chromosome, suggesting between-sex differences in gene flow.
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Indígena Americano ou Nativo do Alasca , Cromossomos Humanos Y , Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Feminino , Marcadores Genéticos/genética , Variação Genética/genética , Genética Populacional , Haplótipos , Humanos , MasculinoRESUMO
OBJECTIVES: The major aim of this article was to estimate the demographic impact of European arrival and colonization over Native American populations from southern Brazil and Uruguay. We also compared the mitochondrial DNA (mtDNA) genetic diversity, structure, and demography of Native American lineages present in current indigenous (Natives) and nonindigenous admixed (Admixed) populations to estimate the effective population size (Ne ) of contemporary and ancestral (pre-Columbian) Native American populations. METHODS: We retrieved published mtDNA sequences from Native (n = 396) and Admixed (n = 309) populations from southern Brazil, Uruguay, and surrounding areas. We conducted genetic diversity, structure, and demographic analyses. Finally, we used Approximate Bayesian Computation to estimate the Ne for current Native, Admixed, and pre-Columbian Native American populations. RESULTS: We found higher Native American mtDNA genetic diversity in admixed rather than in indigenous populations (131/309 vs 27/396 different haplotypes, respectively). Only Admixed populations maintained ancient signals of the Native American population expansion approximately 14 to 17 kya, which have decayed in Natives. Our Ne estimates suggest that Natives represent only 0.33% (0.18%-1.19%) of the Ne for ancestral pre-Columbian indigenous populations. CONCLUSIONS: Admixed populations represent an important genetic reservoir of Native American lineages, many of which are extinct in contemporary indigenous populations. In addition, the Native American lineages present in Admixed populations retain part of the past demographic history of Native Americans. The intensity of the reduction is congruent with historical accounts of strong indigenous depopulation during the colonization process.
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Colonialismo/história , DNA Mitocondrial/análise , Indígenas Sul-Americanos/genética , Densidade Demográfica , População Branca/genética , Teorema de Bayes , Brasil , História do Século XVI , História do Século XVII , Humanos , Modelos Biológicos , UruguaiRESUMO
In spite of many genetic studies that contributed for a deep knowledge about the peopling of the Americas, no consensus has emerged about important parameters such as the effective size of the Native Americans founder population. Previous estimates based on genomic datasets may have been biased by the use of admixed individuals from Latino populations, while other recent studies using samples from Native American individuals relied on approximated analytical approaches. In this study we use resequencing data for nine independent regions in a set of Native American and Siberian individuals and a full-likelihood approach based on isolation-with-migration scenarios accounting for recent flow between Asian and Native American populations. Our results suggest that, in agreement with previous studies, the effective size of the Native American population was small, most likely in the order of a few hundred individuals, with point estimates close to 250 individuals, even though credible intervals include a number as large as ~4,000 individuals. Recognizing the size of the genetic bottleneck during the peopling of the Americas is important for determining the extent of genetic markers needed to characterize Native American populations in genome-wide studies and to evaluate the adaptive potential of genetic variants in this population.
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Domestic turkeys present several color phenotypes controlled by at least five genetic loci, but only one of these has been identified precisely: the bronze locus, which turned out to be the melanocortin-1 receptor (MC1R) gene. MC1R variation is important for breeders interested in maintaining or developing different color varieties. In this study, we sequenced most of the MC1R gene from 16 White Holland (the main commercial turkey variety) and 19 pigmented turkeys from southern Brazil with two purposes. The first was to describe the MC1R diversity in White Holland turkeys, which may serve as reservoirs of genetic diversity at this locus. The second was to test whether the traditional color classification used by Brazilian breeders is related to previously known MC1R alleles. White Holland turkeys had four different haplotypes corresponding to the bronze (b+) and black-winged bronze (b1) alleles. Pigmented turkeys also had four haplotypes corresponding to the b+ and b1 alleles, but different haplotypes represent the most common b+ allele in these two groups. The black (B) allele was absent from our samples. Overall, our results suggest that white and pigmented individuals form two different populations, and that the traditional color classification used by Brazilian breeders cannot accurately predict the genotypes at the bronze locus.
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BACKGROUND: Quaternary climatic changes led to variations in sea level and these variations played a significant role in the generation of marine terrace deposits in the South Atlantic Coastal Plain. The main consequence of the increase in sea level was local extinction or population displacement, such that coastal species would be found around the new coastline. Our main goal was to investigate the effects of sea level changes on the geographical structure and variability of genetic lineages from a Petunia species endemic to the South Atlantic Coastal Plain. We employed a phylogeographic approach based on plastid sequences obtained from individuals collected from the complete geographic distribution of Petunia integrifolia ssp. depauperata and its sister group. We used population genetics tests to evaluate the degree of genetic variation and structure among and within populations, and we used haplotype network analysis and Bayesian phylogenetic methods to estimate divergence times and population growth. RESULTS: We observed three major genetic lineages whose geographical distribution may be related to different transgression/regression events that occurred in this region during the Pleistocene. The divergence time between the monophyletic group P. integrifolia ssp. depauperata and its sister group (P. integrifolia ssp. integrifolia) was compatible with geological estimates of the availability of the coastal plain. Similarly, the origin of each genetic lineage is congruent with geological estimates of habitat availability. CONCLUSIONS: Diversification of P. integrifolia ssp. depauperata possibly occurred as a consequence of the marine transgression/regression cycles during the Pleistocene. In periods of high sea level, plants were most likely restricted to a refuge area corresponding to fossil dunes and granitic hills, from which they colonized the coast once the sea level came down. The modern pattern of lineage geographical distribution and population variation was established by a range expansion with serial founder effects conditioned on soil availability.
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Petunia/classificação , Petunia/genética , Oceano Atlântico , Teorema de Bayes , Mudança Climática , Ecossistema , Variação Genética , Genética Populacional , Geografia , Dados de Sequência Molecular , Filogenia , FilogeografiaRESUMO
BACKGROUND: Archaeology reports millenary cultural contacts between Peruvian Coast-Andes and the Amazon Yunga, a rainforest transitional region between Andes and Lower Amazonia. To clarify the relationships between cultural and biological evolution of these populations, in particular between Amazon Yungas and Andeans, we used DNA-sequence data, a model-based Bayesian approach and several statistical validations to infer a set of demographic parameters. RESULTS: We found that the genetic diversity of the Shimaa (an Amazon Yunga population) is a subset of that of Quechuas from Central-Andes. Using the Isolation-with-Migration population genetics model, we inferred that the Shimaa ancestors were a small subgroup that split less than 5300 years ago (after the development of complex societies) from an ancestral Andean population. After the split, the most plausible scenario compatible with our results is that the ancestors of Shimaas moved toward the Peruvian Amazon Yunga and incorporated the culture and language of some of their neighbors, but not a substantial amount of their genes. We validated our results using Approximate Bayesian Computations, posterior predictive tests and the analysis of pseudo-observed datasets. CONCLUSIONS: We presented a case study in which model-based Bayesian approaches, combined with necessary statistical validations, shed light into the prehistoric demographic relationship between Andeans and a population from the Amazon Yunga. Our results offer a testable model for the peopling of this large transitional environmental region between the Andes and the Lower Amazonia. However, studies on larger samples and involving more populations of these regions are necessary to confirm if the predominant Andean biological origin of the Shimaas is the rule, and not the exception.
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Genética Populacional , Indígenas Sul-Americanos/genética , Teorema de Bayes , Evolução Biológica , Variação Genética , Migração Humana , Humanos , Dados de Sequência Molecular , Grupos Populacionais , América do SulRESUMO
Understanding the spatiotemporal distribution of genetic variation and the ways in which this distribution is connected to the ecological context of natural populations is fundamental for understanding the nature and mode of intraspecific and, ultimately, interspecific differentiation. The Petunia axillaris complex is endemic to the grasslands of southern South America and includes three subspecies: P. a. axillaris, P. a. parodii and P. a. subandina. These subspecies are traditionally delimited based on both geography and floral morphology, although the latter is highly variable. Here, we determined the patterns of genetic (nuclear and cpDNA), morphological and ecological (bioclimatic) variation of a large number of P. axillaris populations and found that they are mostly coincident with subspecies delimitation. The nuclear data suggest that the subspecies are likely independent evolutionary units, and their morphological differences may be associated with local adaptations to diverse climatic and/or edaphic conditions and population isolation. The demographic dynamics over time estimated by skyline plot analyses showed different patterns for each subspecies in the last 100 000 years, which is compatible with a divergence time between 35 000 and 107 000 years ago between P. a. axillaris and P. a. parodii, as estimated with the IMa program. Coalescent simulation tests using Approximate Bayesian Computation do not support previous suggestions of extensive gene flow between P. a. axillaris and P. a. parodii in their contact zone.
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Evolução Biológica , Variação Genética , Petunia/classificação , Teorema de Bayes , Núcleo Celular/genética , Clima , DNA de Cloroplastos/genética , DNA de Plantas/genética , Flores/anatomia & histologia , Genética Populacional , Pradaria , Haplótipos , Hibridização Genética , Modelos Genéticos , Petunia/anatomia & histologia , Petunia/genética , Análise de Sequência de DNA , América do SulRESUMO
Elucidating the pattern of genetic diversity for non-European populations is necessary to make the benefits of human genetics research available to individuals from these groups. In the era of large human genomic initiatives, Native American populations have been neglected, in particular, the Quechua, the largest South Amerindian group settled along the Andes. We characterized the genetic diversity of a Quechua population in a global setting, using autosomal noncoding sequences (nine unlinked loci for a total of 16 kb), 351 unlinked SNPs and 678 microsatellites and tested predictions of the model of the evolution of Native Americans proposed by (Tarazona-Santos et al.: Am J Hum Genet 68 (2001) 1485-1496). European admixture is <5% and African ancestry is barely detectable in the studied population. The largest genetic distances were between African versus Quechua or Melanesian populations, which is concordant with the African origin of modern humans and the fact that South America was the last part of the world to be peopled. The diversity in the Quechua population is comparable with that of Eurasian populations, and the allele frequency spectrum based on resequencing data does not reflect a reduction in the proportion of rare alleles. Thus, the Quechua population is a large reservoir of common and rare genetic variants of South Amerindians. These results are consistent with and complement our evolutionary model of South Amerindians (Tarazona-Santos et al.: Am J Hum Genet 68 (2001) 1485-1496), proposed based on Y-chromosome data, which predicts high genomic diversity due to the high level of gene flow between Andean populations and their long-term effective population size.
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Variação Genética , Genética Populacional , Indígenas Sul-Americanos/genética , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Sequência de Bases , População Negra/genética , Frequência do Gene , Genoma Humano , Genômica , Projeto Genoma Humano , Humanos , Dados de Sequência Molecular , População Branca/genéticaRESUMO
"Junk DNA" is a popular yet controversial concept that states that organisms carry in their genomes DNA that has no positive impact on their fitness. Nonetheless, biochemical functions have been identified for an increasing fraction of DNA elements traditionally seen as "Junk DNA". These findings have been interpreted as fundamentally undermining the "Junk DNA" concept. Here, we reinforce previous arguments that this interpretation relies on an inadequate concept of biological function that does not consider the selected effect of a given genomic structure, which is central to the "Junk DNA" concept. Next, we suggest that another (though ignored) confounding factor is that the discussion about biological functions includes two different dimensions: a horizontal, ecological dimension that reflects how a given genomic element affects fitness in a specific time, and a vertical, temporal dimension that reflects how a given genomic element persisted along time. We suggest that "Junk DNA" should be used exclusively relative to the horizontal dimension, while for the vertical dimension, we propose a new term, "Spam DNA", that reflects the fact that a given genomic element may persist in the genome even if not selected for on their origin. Importantly, these concepts are complementary. An element can be both "Spam DNA" and "Junk DNA", and "Spam DNA" can also be recruited to perform evolved biological functions, as illustrated in processes of exaptation or constructive neutral evolution.
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Evolução Molecular , Genoma , DNA/genética , DNA Intergênico , GenômicaRESUMO
Since the 1960s, East African athletes, mainly from Kenya and Ethiopia, have dominated long-distance running events in both the male and female categories. Further demographic studies have shown that two ethnic groups are overrepresented among elite endurance runners in each of these countries: the Kalenjin, from Kenya, and the Oromo, from Ethiopia, raising the possibility that this dominance results from genetic or/and cultural factors. However, looking at the life history of these athletes or at loci previously associated with endurance athletic performance, no compelling explanation has emerged. Here, we used a population approach to identify peaks of genetic differentiation for these two ethnicities and compared the list of genes close to these regions with a list, manually curated by us, of genes that have been associated with traits possibly relevant to endurance running in GWAS studies, and found a significant enrichment in both populations (Kalenjin, P = 0.048, and Oromo, P = 1.6x10-5). Those traits are mainly related to anthropometry, circulatory and respiratory systems, energy metabolism, and calcium homeostasis. Our results reinforce the notion that endurance running is a systemic activity with a complex genetic architecture, and indicate new candidate genes for future studies. Finally, we argue that a deterministic relationship between genetics and sports must be avoided, as it is both scientifically incorrect and prone to reinforcing population (racial) stereotyping.
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Desempenho Atlético , Corrida , População Negra/genética , Etnicidade/genética , Feminino , Humanos , Masculino , Resistência Física/genéticaRESUMO
It is well accepted that the Americas were the last continents reached by modern humans, most likely through Beringia. However, the precise time and mode of the colonization of the New World remain hotly disputed issues. Native American populations exhibit almost exclusively five mitochondrial DNA (mtDNA) haplogroups (A-D and X). Haplogroups A-D are also frequent in Asia, suggesting a northeastern Asian origin of these lineages. However, the differential pattern of distribution and frequency of haplogroup X led some to suggest that it may represent an independent migration to the Americas. Here we show, by using 86 complete mitochondrial genomes, that all Native American haplogroups, including haplogroup X, were part of a single founding population, thereby refuting multiple-migration models. A detailed demographic history of the mtDNA sequences estimated with a Bayesian coalescent method indicates a complex model for the peopling of the Americas, in which the initial differentiation from Asian populations ended with a moderate bottleneck in Beringia during the last glacial maximum (LGM), around approximately 23,000 to approximately 19,000 years ago. Toward the end of the LGM, a strong population expansion started approximately 18,000 and finished approximately 15,000 years ago. These results support a pre-Clovis occupation of the New World, suggesting a rapid settlement of the continent along a Pacific coastal route.
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Indígena Americano ou Nativo do Alasca/genética , DNA Mitocondrial/genética , Emigração e Imigração , Filogenia , América , Genômica , Haplótipos , Humanos , Análise de Sequência de DNARESUMO
The illegal capture and trade of wild birds have long been threats to biodiversity. The rehabilitation and release of confiscated animals may be a useful conservation tool in species management. However, differences between populations regarding health (e.g., different pathogens) and adaptation (e.g., local adaptation) must be taken into account, since both can negatively impact the recipient population. In this pilot study, we used two of the most illegally trafficked Brazilian wild passerine species, namely the red-crested cardinal (Paroaria coronata) and green-winged saltator (Saltator similis) as case studies and assessed some of the health threats that the release of confiscated passerines may pose to free-living birds. We also investigated the level of difference in mitochondrial genetic structure among populations living in different ecoregions. Blood, feces, and oropharyngeal swabs from confiscated (n = 115) and free-living (n = 120) passerines from the release sites were tested for the Newcastle disease virus, Salmonella spp., and Mycoplasma gallisepticum. These are considered major avian diseases by the Brazilian National Avian Health Program. We analyzed mtDNA to study the difference in genetic structure between populations using samples from 127 free-living passerines. We found no evidence of the Newcastle disease virus or Salmonella spp. in confiscated or free-living passerines from either species. However, the levels of infection with M. galissepticum detected in our study for red-crested cardinals and green-winged saltators calls for a high degree of caution in captive release programs. The difference in genetic structure between populations occurring in different regions was low, and was not significant between those from the Pampa/Subtropical Grasslands region. These results suggest that it may be possible to establish a cost-effective and sensitive protocol for releasing confiscated songbirds, provided that further genome-wide studies indicate that the functional genetic diversity among (at least some of the) populations is also low.
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BACKGROUND AND OBJECTIVE: Uncoupling protein 2 (UCP2) plays a role in controlling reactive oxygen species (ROS) production by mitochondria. As ROS overproduction is related to diabetic retinopathy (DR), UCP2 gene polymorphisms might be involved in the development of this complication. We investigated whether the -866G/A (rs659366), Ala55Val (rs660339) and 45 bp insertion/deletion (Ins/Del) polymorphisms in the UCP2 gene might be associated with proliferative DR (PDR). DESIGN AND METHODS: In this case-control study, we analysed 501 type 2 diabetic patients (242 patients with PDR and 259 subjects without any degree of DR) and 196 type 1 diabetic patients (85 cases with PDR and 111 without DR). Haplotypes constructed from the combination of the three UCP2 polymorphisms were inferred using a Bayesian statistical method. RESULTS: In the type 2 diabetic group, multivariate analyses confirmed that the haplotype [A Val Ins] was an independent risk factor for PDR when present in one [adjusted odds ratio (aOR) = 2.12; P = 0.006], at least one (aOR = 2.75; P = 0.00001), or two copies (aOR = 5.30; P = 0.00001), suggesting an additive model of inheritance. Nevertheless, in type 1 diabetic patients, the association of this haplotype with PDR was confirmed only when it was present in at least one (aOR = 2.68; P = 0.014) or two copies (aOR = 6.02; P = 0.005). CONCLUSIONS: The haplotype [A Val Ins] seems to be an important risk factor associated with PDR in both type 2 and 1 diabetic groups.
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Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 2/complicações , Retinopatia Diabética/genética , Canais Iônicos/genética , Proteínas Mitocondriais/genética , Polimorfismo Genético , Idoso , Teorema de Bayes , Estudos de Casos e Controles , Retinopatia Diabética/complicações , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Mutação INDEL , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Proteína Desacopladora 2RESUMO
Characterizing molecular evolution patterns of the Hepatitis B Virus (HBV) is important for a better understanding of the natural history of this infection. However, several molecular evolution estimates are conditioned on tree topology. There is no consensus about the phylogenetic relationships of HBV genotypes, and different studies often find alternative topologies. While most studies consider HBV genotypes F and H as sister to all other human genotypes, a recent study suggested an alternative HBV phylogeny that indicates an accelerated substitution rate for HBV-F/H partially driven by positive selection. In this study, we evaluate the impact of alternative HBV topologies on inferences of HBV phylogeny, rate acceleration, and positive selection on the HBV-F/H branch. Our results indicate that under certain methodological approaches alternative HBV topologies are equally likely. Considering phylogenetic uncertainty, there is no evidence that HBV-F/H had an accelerated substitution rate, even though inferences of positive selection are robust to alternative background topologies. Our results further suggest that, under reasonable assumptions, HBV-F/H most likely represents the sister lineage to all other human/ape HBV genotypes. Understanding the full range of likely topologies will be crucial for elaborating, testing, and refining hypothesis about the evolutionary HBV origins in our species.
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Evolução Molecular , Genoma Viral , Vírus da Hepatite B/genética , Filogenia , Animais , DNA Viral/genética , Genótipo , Hepatite B/virologia , Vírus da Hepatite B/classificação , Hominidae/virologia , Humanos , Análise de Sequência de DNARESUMO
Brazil is the fifth largest country in the world in area and the fifth most populous. The Brazilian voluntary Bone Marrow Donor Registry is the third largest in terms of number of donors in the world, being a valuable source of HLA genetics to characterize the donor population of Brazil as well. The genetic background of the Brazilian population is quite heterogeneous, resulting from 5 centuries of admixture among Native Americans, Europeans and Africans, making the Brazilian population unique in terms of genetic ancestry. The unique characteristics of populations in different Brazilian regions make them an exciting focus for genetic diversity studies. Studies on HLA genetic diversity of Brazilian populations have been conducted since the late 1980s and, in this review, we highlight the main findings from studies carried out in Brazil based on classical HLA. In addition, we calculated the genetic distance from the molecular data of the studies included in this review in order to have a broader view of the HLA diversity in Brazilian populations. We emphasize that characterization of HLA diversity is not only important for transplantation programs, but can shed a light on ancestry, history and other demographic patterns with or without association with autoimmune disease.
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Doadores de Tecidos , População Branca , Alelos , Brasil , Etnicidade/genética , Frequência do Gene , HumanosRESUMO
Elasmobranchs, the group of cartilaginous fishes that include sharks and rays, are especially vulnerable to overfishing due to low fecundity and late sexual maturation. A significant number of elasmobranch species are currently overexploited or threatened by fisheries activities. Additionally, several recent reports have indicated that there has been a reduction in regional elasmobranch population sizes. Brazil is an important player in elasmobranch fisheries and one of the largest importers of shark meat. However, carcasses entering the shark meat market have usually had their fins and head removed, which poses a challenge to reliable species identification based on the morphology of captured individuals. This is further complicated by the fact that the internal Brazilian market trades several different elasmobranch species under a common popular name: "cação." The use of such imprecise nomenclature, even among governmental agencies, is problematic for both controlling the negative effects of shark consumption and informing the consumer about the origins of the product. In this study, we used DNA barcoding (mtDNA, COI gene) to identify, at the species level, "cação" samples available in local markets from Southern Brazil. We collected 63 samples traded as "cação," which we found to correspond to 20 different species. These included two teleost species: Xiphias gladius (n = 1) and Genidens barbus (n = 6), and 18 species from seven elasmobranch orders (Carcharhiniformes, n = 42; Squaliformes, n = 3; Squatiniformes, n = 2; Rhinopristiformes, n = 4; Myliobatiformes, n = 3; Rajiformes, n = 1; and Torpediniformes, n = 1). The most common species in our sample were Prionace glauca (n = 15) and Sphyrna lewini (n = 14), while all other species were represented by four samples or less. Considering IUCN criteria, 47% of the elasmobranch species found are threatened at the global level, while 53% are threatened and 47% are critically endangered in Brazil. These results underline that labeling the meat of any shark species as "cação" is problematic for monitoring catch allocations from the fishing industry and discourages consumer engagement in conservationist practices through informed decision-making.
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The Pampas is a Neotropical biome formed primarily by low altitude grasslands and encompasses the southernmost portion of Brazil, Uruguay, and part of Argentina. Despite the high level of endemism, and its significant environmental heterogeneity, Pampean species are underrepresented in phylogeographic studies, especially aquatic organisms. The Pampean hydrological system resulted from a long history of tectonism, climate, and sea level changes since the Neogene. In this study, we examined the population genetic structure of Cnesterodon decemmaculatus, a freshwater fish species that occurs throughout most of the Pampa biome. We characterized mitochondrial and autosomal genetic lineages in populations sampled from Southern Brazil and Uruguay to investigate (1) the correspondence between current drainage systems and evolutionary lineages, (2) the demographic history for each genetic lineage, and (3) the temporal depth of these lineages. Overall, we found that the major evolutionary lineages in this species are strongly related to the main Pampean drainage systems, even though stream capture events may have affected the distribution of genetic lineages among drainages. There was evidence for recent population growth in the lineages occupying drainages closest to the shore, which may indicate the effect of quaternary sea-level changes. In general, divergence time estimates among evolutionary lineages were shallow, ranging from 20,000 to 800,000 years before present, indicating a geologically recent history for this group, as previously reported in other Pampean species. A Bayesian phylogeographical reconstruction suggested that an ancestral lineage probably colonized the Uruguay River Basin, and then expanded throughout the Pampas. This evolutionary scenario may represent useful starting models for other freshwater species having a similar distribution.