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There are few animal germplasm/gene bank collections in Brazil, and basic studies are needed to attend the future internal and external demands from international partners. The aim of this work was to validate a "proof of concept" that integrates spatial (georeferenced data) and genetic data regarding the local of origin from 3518 DNA samples from 17 different genetic groups or breeds of sheep in the Brazilian Germplasm bank. Spatialisation shows that not all genetic groups have samples in the bank, and collection is concentrated in the conservation nuclei spread nationwide. Only 21% of states with a specific breed have samples in the gene bank. The mean number of animals sampled per collection was 32, while the mean distance travelled to collect samples was 262 km from the conservation nuclei. For example, the Brazilian Somali were only collected in the conservation nucleus in Ceará State. No samples were collected to date for the Cariri breed, which is recognised by the Brazilian Ministry of Agriculture. Only two farms and one breed in the bank are from the northern region. Of the 27 states, there are samples in the gene bank of sheep from 13, so several states have no samples, requiring collection from herds outside the official system of conservation to make sure that studies using this germplasm realised are not biased. Significant genetic differences are seen above 332 km, which should guide future sampling efforts. Suggestions are given for improving the quantity, quality and diversity of samples in the gene bank.

A literature review of genetic studies on 3134 endangered or data deficient Brazilian plant species was performed using the Periodical Capes database, using, for each species, a combination of the binomial (without authorship) and the radical genet*. The search was only for articles, without publication year limitation. The search included relevant synonyms, based on information obtained from the National Flora Conservation Center (CNC Flora) website. Phylogenetic studies focusing on taxonomy or studies focusing on gene expression were excluded. A total of 14 463 articles were retrieved with this search strategy, but only 312 fit within the scope of the search. Results show that genetic studies for plants of all threat categories are lacking, with a very low average (0,09%) of genetic studies retrieved per species. The four threatened species with a higher number of studies are species of commercial interest. For 1931 species no article was retrieved. Given the high levels of biodiversity loss in Brazil, it is urgent to invest in the knowledge of the biology of threatened plant species, especially those which are the most neglected in genetic studies [ABSTRACT FROM AUTHOR]

Although there is a consensus among conservation biologists about the importance of genetic information, the assessment of extinction risk and conservation decision-making generally do not explicitly consider this type of data. Genetic data can be even more important in species where little other information is available. In this study, we investigated a poorly known legume tree, Dimorphandra exaltata, from the Brazilian Atlantic Forest, a hotspot for conservation. We coupled species distribution models and geospatial assessment based on herbarium records with population genetic analyses to evaluate its genetic status and extinction risk, and to suggest conservation measures. Dimorphandra exaltata shows low genetic diversity, inbreeding, and genetic evidence of decrease in population size, indicating that the species is genetically depleted. Geospatial assessment classified the species as Endangered. Species distribution models projected a decrease in range size in the near future (2050). The genetic status of the species suggests low adaptive potential, which compromises its chances of survival in the face of ongoing climatic change. Altogether, our coupled analyses show that the species is even more threatened than indicated by geospatial analyses alone. Thus, conservation measures that take into account genetic data and the impacts of climate change in the species should be implemented.

The allelic frequency distributions and statistical forensic parameters of 26 mini short tandem repeat (mini-STR) loci in a sample of 1575 unrelated individuals from five different Brazilian regions were obtained. All the analyzed loci showed great diversity and were highly informative. The results were compared with those of the US Caucasian, African American, and Hispanic population studies. This study aimed to contribute to forensic analysis for human identification and inference of the evidential value in familial bond tests.

The AmpFlSTR® Identifiler™ is a multiplex kit which coamplifies 16 STR loci, including the segment of the X–Y homologus gene Amelogenin. The study of these STR loci is important for the formation of local human identification databases in order to statistically evaluate the evidence. This report presents allele frequency data for 15 STR loci in 150 unrelated individuals from Bahia, Brazil. The genotype frequencies of the 15 STR loci showed no deviations from HWE expectations. The combined power of exclusion is estimated as 99.99996% and the combined power of discrimination is 99.9999999999999999%. [Copyright &y& Elsevier]

We evaluated haplotype and allele frequencies, as well as statistical forensic parameters, for 23 Y-chromosome short tandem repeats (STRs) loci of the PowerPlex®Y23 system (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4, DYS481, DYS533, DYS549, DYS570, DYS576, DYS643) in a sample of 150 apparently healthy males, resident in South Brazil. A total of 150 different haplotypes were identified. The highest gene diversity (GD) was observed for the single locus marker DYS570 (GD = 0.7888) and for a two-locus system DYS385 (GD = 0.9009). We also examined 150 father-son pairs by the same system, and a total of 13 mutations were identified in the 3450 father-son allelic transfers, with an overall mutation rate across the 23 loci of 3.768 × 10(-3) (95% CI: 3.542 × 10(-3) to 3.944 × 10(-3)). In all cases there was only one locus mutated with gain/loss of repeats in the son (5 one-repeat gains, and 7 one-repeat and 1 two-repeat losses); we observed no instances of mutations involving a non-integral number of repeats.

The application of DNA technology in forensic investigations has grown rapidly in the last 25 years and with an exponential increase of short tandem repeats (STRs) data, usually presented as allele frequencies, that may be later used as databases for forensic and population genetics purposes. Thereby, classes of molecular markers such as single nucleotide polymorphisms and insertions/deletions (InDels) have been presented as another option of genetic marker sets. These markers can be used in paternity cases, when mutations in STR polymorphisms are present, as well as in highly degraded DNA analysis. In the present study, the allele frequencies and heterozygosity (H) of a 30 InDel markers set were determined and the forensic efficacy was evaluated through estimation of discrimination power (DP), match probability, typical paternity index and power of paternity exclusion in 108 unrelated volunteers from the State of Santa Catarina (South Brazil). The observed H per locus showed a range between 0.370 and 0.574 (mean = 0.479). HLD128 was the locus with the highest DP (DP = 0.656). DP for all markers combined was greater than 99.9999999999646 % which provides satisfactory levels of information for forensic demands. Genetic comparisons (exact tests of population differentiation and pairwise genetic distances) revealed that the population of Santa Catarina State differs from Korea and USA Afro-American populations but is similar to the Portuguese, German, Polish, Spanish and Basque populations.

Aedes aegypti is the most important vector of dengue viruses in tropical and subtropical regions. Because vaccines are still under development, dengue prevention depends primarily on vector control. Population genetics is a common approach in research involving Ae. aegypti. In the context of medical entomology, wing morphometric analysis has been proposed as a strong and low-cost complementary tool for investigating population structure. Therefore, we comparatively evaluated the genetic and phenotypic variability of population samples of Ae. aegypti from four sampling sites in the metropolitan area of São Paulo city, Brazil. The distances between the sites ranged from 7.1 to 50 km. This area, where knowledge on the population genetics of this mosquito is incipient, was chosen due to the thousands of dengue cases registered yearly. The analysed loci were polymorphic, and they revealed population structure (global F(ST)=0.062; p<0.05) and low levels of gene flow (Nm=0.47) between the four locations. Principal component and discriminant analyses of wing shape variables (18 landmarks) demonstrated that wing polymorphisms were only slightly more common between populations than within populations. Whereas microsatellites allowed for geographic differentiation, wing geometry failed to distinguish the samples. These data suggest that microevolution in this species may affect genetic and morphological characters to different degrees. In this case, wing shape was not validated as a marker for assessing population structure. According to the interpretation of a previous report, the wing shape of Ae. aegypti does not vary significantly because it is stabilised by selective pressure., (Copyright © 2011 Elsevier B.V. All rights reserved.)

The genetic markers most commonly utilized to determine identity and in paternity testing are autosomal short tandem repeats (STRs); to interpret the DNA analysis, the results of a case have to be compared with a pertinent reference population. Thus, the aim of this work was to characterize the genetic profile of the population of Araraquara (São Paulo, Brazil) by analyzing 15 STR loci included in the PowerPlex(®) 16 System and to correlate these data with the migration history of the population. No deviations from the Hardy-Weinberg equilibrium were observed for any of the loci, after Bonferroni's correction. Forensic parameters exhibited high values, the most polymorphic loci being Penta E, D18S51 and FGA. An unweighted pair-group method with arithmetic mean (UPGMA) tree based on genetic distances showed that the current population of Araraquara is grouped with populations of the southeastern region of Brazil, which are close to the European group but distant from African and Amerindian populations. Estimates of admixture components revealed that the contributions to the population of Araraquara were 76% European, 18% African, and 6% Amerindian.

Many studies have used genetic markers to understand global migration patterns of our species. However, there are only few studies of human migration on a local scale. We, therefore, researched migration dynamics in three Afro-Brazilian rural communities, using demographic data and ten Ancestry Informative Markers. In addition to the description of migration and marriage structures, we carried out genetic comparisons between the three populations, as well as between locals and migrants from each community. Genetic admixture analyses were conducted according to the gene-identity method, with Sub-Saharan Africans, Amerindians, and Europeans as parental populations. The three analyzed Afro-Brazilian rural communities consisted of 16% to 30% of migrants, most of them women. The age pyramid revealed a gap in the segment of men aged between 20 to 30 yrs. While endogamous marriages predominated, exogamous marriages were mainly patrilocal. Migration dynamics are apparently associated with matrimonial customs and other social practices of such communities. The impact of migration upon the populations' genetic composition was low but showed an increase in European alleles with a concomitant decrease in the Amerindian contribution. Admixture analysis evidenced a higher African contribution to the gene pool of the studied populations, followed by the contribution of Europeans and Amerindians, respectively.

The study of X-chromosomal short tandem repeats (X-STRs) can complement the analysis of autosomal and Y-STRs. A decaplex system for the X-chromosome genetic markers, DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902 and DXS6789, was used to study a population sample of Santa Catarina, Brazil. 184 individuals (72 female and 112 male samples) were typed. DNA was amplified in a multiplex reaction and the automatic detection performed using capillary electrophoresis. Allele frequencies and some forensic parameters were calculated., (Copyright 2010 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.)

In the last years, several works have been published on the variability of X-markers; however, few were on Asian populations. In this work, we present the genetic data of 12 X-STRs (DXS9895, DXS7132, DXS6800, DXS9898, DXS6789, DXS7133, GATA172D05, DXS7130, HPRTB, GATA31E08, DXS7423, DXS10011) obtained from a sample of 232 individuals of Japanese origin residing in Brazil. Most markers investigated present a high genetic diversity, with the exception of DXS6800. No deviations from Hardy-Weinberg equilibrium were observed, with the exception of DXS7133 locus. Linkage disequilibrium analysis did not reveal consistent evidence of association between the X-STRs used. The comparison of the Japanese immigrant population with other Asian populations (Japanese, Chinese, and Korean) demonstrates the inexistence of significant allelic frequency differences between these populations in most systems investigated.

Allele frequencies data, paternity and forensic parameters for 15 autosomal short tandem repeat (STR) autosomal markers (D8S1179, D21S11, D7S820, CSF1PO, D5S818, D3S1358, TH01, D13S317, D16S539, D2S1338, TPOX, D19S433, vWA, D18S51, FGA) were determined for a sample of 494 unrelated individuals undergoing kinship analysis and molecular cytogenetic testing from the population of the city of Campos dos Goytacazes, Northern State of Rio de Janeiro, Brazil. The loci with the highest polymorphism information content were D18S51 (0.874), D2S1338 (0.853), FGA (0.852), D21S11 (0.838). The combined power of discrimination and the combined power of exclusion were 0.999999999999999 and 0.999526684, respectively. At the available common loci CSF1PO, TH01, TPOX, vWA, D16S539, D7S820 and D13S317, allele frequencies were compared with population databases from State of Alagoas, State of Amazonas, State of São Paulo (Brazilian mulattoes, descendants of Europeans, Africans or Asians), State of Mato Grosso do Sul and State of Rio de Janeiro. No significant distances were observed. The interpopulation genetic distance (Fst coefficients) to the present database, ranged 0.0022 (p=0.446) (Northern State Rio de Janeiro-State of São Paulo European-descendants) to 0.0138 (p=0.993) (Northern State Rio de Janeiro-State of São Paulo Asian-descendants). The Asian-descendants Brazilians are the least admixed. All other groups are admixed as one unique population.

Allele frequencies for 11 STR autosomal loci (D3S1358, vWA, D16S539, D2S1338, D8S1179, SE33, D19S433, TH01, FGA, D21S11, D18S51) were analysed in unrelated individuals undergoing paternity testing in Rio Grande do Sul State, Southern Brazil. The most polimorphic locus was SE33. The distributions of the genotypes in the evaluated loci are in Hardy-Weinberg equilibrium after Bonferroni's correction.

Fifteen short tandem repeats (STR) markers were analyzed (TPOX, D2S1338, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, D16S539, D18S51, D19S433, and D21S11) in unrelated individuals undergoing paternity studies from Minas Gerais state, Brazil. Allele frequencies and statistical parameters for the 15 loci were calculated.

Population: A total of 184 healthy unrelated individuals (70 females and 114 males), autochthonous from Santa Catarina, Brazil.

Allelic frequencies for 19 STR loci (F13B, TPOX, D3S1358, FGA, CSF1PO, D5S818, F13A01, D7S820, D8S1179, D10S1237, TH01, VWA, D13S317, FESFPS, Penta E, D16S539, D18S51, D19S253, and D21S11) were obtained from an average of 13,000 unrelated Brazilian adults undergoing parentage testing. D10S1237 is a tetranucleotide repeat locus shown to be useful for forensic and paternity studies. Null allele frequencies and mutation rates were ascertained from this population sample.

Allelic frequencies for 12 short tandem repeats (STRs) (F13A01, F13B, FESFPS, LPL, CSF1PO, TPOX, TH01, vWA, D16S539, D7S820, D13S317 and D5S818) were estimated, also as forensic parameters, from a sample of 916 unrelated Brazilian subjects classified into four ethnic groups: European-derived, African-derived, Brazilian Mulattos and Asian-derived.

Abstract: Genetic population data for 10 X-STR (DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902 and DXS6789) were obtained from Vitória population (Espírito Santo State, Brazil). No deviations from the Hardy–Weinberg equilibrium and linkage disequilibrium were observed. The combined powers of discrimination in males and females were 0.9999995 and 0.99999999996, respectively. These high values show the potential of this system in human identification in Vitória population, Brazil. [Copyright &y& Elsevier]

Abstract: Genetic population data for five X-STR (DXS6854, DXS7424, DXS101, DXS6808 and DXS7132) were obtained from Bauru population (São Paulo, Brazil). No deviations from the Hardy–Weinberg equilibrium were observed, with the exception of DXS101. The combined powers of discrimination in males and females were 0.99897253 and 0.99999120, respectively. These high values show the potential of this system in human identification and paternity testing. [Copyright &y& Elsevier]

(1) Background: Although Physaloptera retusa is one of the most widespread species infecting reptiles in the Americas, numerous taxonomic problems and little genetic data are associated with it. To clarify the taxonomy of this species, we used an integrative approach. (2) Methods: Physaloptera retusa-infecting Erythrolamprus typhlus (snake) from the Pantanal wetlands, Brazil, was morphologically and genetically characterised (18S and 28S rDNA; COI mtDNA) and compared with conspecific sequences available in GenBank, from parasites of Tupinambis teguixin (lizard), using species delimitation methods. Type specimens of P. liophis were re-evaluated given its morphological similarities with P. retusa. (3) Results: The morphology of the present specimens was equal to that of P. retusa, in which the only difference from P. liophis was the relative position of the vulva. Species delimitation methods were more accurate for the COI dataset; all of them (except ABGD) indicated interspecificity among P. retusa sequences. However, a lack of morphological data or voucher material, associated with the deposited sequences, prevented more assertive conclusions. (4) Conclusions: The present results highlight the importance of a clear association between genetic data and morphology of the isolation source, or at least its adequate vouchering. Moreover, P. retusa may represent a species complex in cryptic speciation, since it is widespread and has low hosts specificity. [ABSTRACT FROM AUTHOR]

Different views on recognising taxa associated with the Campomanesia xanthocarpa group (Myrtaceae) demonstrate the difficulties in clearly delimiting species. Studies using Inter Simple Sequence Repeats (ISSR) molecular markers were carried out on 201 individuals from 13 populations of C. xanthocarpa Mart. ex O.Berg, C. adamantium (Cambess.) O.Berg, C. costata M.Ibrahim & Landrum and C. littoralis D.Legrand in an attempt to improve understanding of species boundaries between these species. SplitsTree , analysis of molecular variance (AMOVA), principal component analysis (PCA), Neighbour-Joining (NJ) dendrogram and STRUCTURE showed inconsistencies between morphological and genetic data in these taxa. Therefore C. adamantium and C. xanthocarpa are treated as distinct taxa in this study, as are C. costata , C. littoralis and C. rhombea O.Berg that were previously considered part of C. xanthocarpa. Structured populations in C. adamantium were not congruent with taxonomic data or poorly supported in the data analysed. These were maintained as a single polymorphic species and new integrative approaches are necessary to improve understanding of taxon boundaries. We present a taxonomic treatment based on these decisions. This study contributes to the systematic treatment of Campomanesia and encourages specific delimitation studies to resolve remaining taxonomic issues within the genus. Species of Campomanesia are economically important, being used for food and in forestry. Some of these are morphologically similar, raising doubts regarding identification. Seeking to solve this, we performed population genetic analyses with a complex of species: Campomanesia adamantium , C. costata , C. littoralis and C. xanthocarpa. Results indicated the re-establishment of Campomanesia rhombea and complexity of C. adamantium that should be explored based on additional tools. This study improves our understanding of the taxonomy of the genus. (Image credit: M. Ibrahim Uehbe de Oliveira.) [ABSTRACT FROM AUTHOR]

The transport of passively dispersed organisms across tropical margins remains poorly understood. Hypotheses of oceanographic transportation potential lack testing with large scale empirical data. To address this gap, we used the seagrass species, Halodule wrightii, which is unique in spanning the entire tropical Atlantic. We tested the hypothesis that genetic differentiation estimated across its large-scale biogeographic range can be predicted by simulated oceanographic transport. The alternative hypothesis posits that dispersal is independent of ocean currents, such as transport by grazers. We compared empirical genetic estimates and modelled predictions of dispersal along the distribution of H. wrightii. We genotyped eight microsatellite loci on 19 populations distributed across Atlantic Africa, Gulf of Mexico, Caribbean, Brazil and developed a biophysical model with high-resolution ocean currents. Genetic data revealed low gene flow and highest differentiation between (1) the Gulf of Mexico and two other regions: (2) Caribbean-Brazil and (3) Atlantic Africa. These two were more genetically similar despite separation by an ocean. The biophysical model indicated low or no probability of passive dispersal among populations and did not match the empirical genetic data. The results support the alternative hypothesis of a role for active dispersal vectors like grazers. [ABSTRACT FROM AUTHOR]

Since 2014, Brazil has experienced an unprecedented epidemic caused by chikungunya virus (CHIKV), with several waves of East-Central-South-African (ECSA) lineage transmission reported across the country. In 2018, Rio de Janeiro state, the third most populous state in Brazil, reported 41% of all chikungunya cases in the country. Here we use evolutionary and epidemiological analysis to estimate the timescale of CHIKV-ECSA-American lineage and its epidemiological patterns in Rio de Janeiro. We show that the CHIKV-ECSA outbreak in Rio de Janeiro derived from two distinct clades introduced from the Northeast region in mid-2015 (clade RJ1, n = 63/67 genomes from Rio de Janeiro) and mid-2017 (clade RJ2, n = 4/67). We detected evidence for positive selection in non-structural proteins linked with viral replication in the RJ1 clade (clade-defining: nsP4-A481D) and the RJ2 clade (nsP1-D531G). Finally, we estimate the CHIKV-ECSA's basic reproduction number (R0) to be between 1.2 to 1.6 and show that its instantaneous reproduction number (Rt) displays a strong seasonal pattern with peaks in transmission coinciding with periods of high Aedes aegypti transmission potential. Our results highlight the need for continued genomic and epidemiological surveillance of CHIKV in Brazil, particularly during periods of high ecological suitability, and show that selective pressures underline the emergence and evolution of the large urban CHIKV-ECSA outbreak in Rio de Janeiro. Author summary: Chikungunya is a mosquito-borne viral disease that has emerged as a significant public health concern in many regions worldwide. The state of Rio de Janeiro, a key economic and tourism hub in Brazil, has experienced multiple outbreaks of chikungunya in recent years, resulting in significant morbidity and economic burden. However, our understanding of the establishment and epidemiology of chikungunya in Rio de Janeiro remains limited. We conducted an analysis of chikungunya epidemiology in Rio de Janeiro, focusing on the first four years of virus circulation in the state. We estimated the magnitude of chikungunya transmission during this period, providing evidence that the trends of incidence and transmissibility can be influenced by climatic fluctuations, which impact vector abundance. Through analysis of novel genetic data, we inferred the evolutionary history of the virus, providing evidence of molecular adaptation in the lineage circulating in Rio de Janeiro. These findings highlight the need for designing effective vector control strategies to prevent and mitigate chikungunya in Rio de Janeiro and similar settings. Further research is needed to continue monitoring viral epidemiological trends and to better understand the complex interactions between climatic factors, vector dynamics, and viral evolution in shaping the transmission of this emerging disease. [ABSTRACT FROM AUTHOR]

The elucidation of mechanisms responsible for the reproductive isolation of species is a fundamental part of speciation research. South American poeciliid fishes in the genus Phalloceros represent a promising system in which to study the evolution of reproductive barriers between closely related species. Phalloceros are often found in sympatry with non-sister congeners, and most such species pairs have morphologically divergent female and male genitalia. In recent studies, it has been hypothesized that mismatched genitalia between co-occurring Phalloceros species might act as mechanical barriers to prevent hybridization and might help to explain the diversification of this group. However, this idea has not yet been evaluated empirically with genetic data. Here, we tested this hypothesis using morphological data in conjunction with mitochondrial and nuclear DNA sequence data. Our study focused on Phalloceros anisophallos and Phalloceros leptokeras , two non-sister species that have mismatched genitalia and that occur together in at least four rivers in south-eastern Brazil. Despite the prevalence of hybridization between closely related non-sister species of animals, especially fish, our phylogenetically-based results detected no evidence of mitonuclear discordance and (hence historical hybridization) between the two focal species. Our findings are therefore consistent with the hypothesis that mismatched genitalia prevent hybridization between sympatric species of Phalloceros fishes. [ABSTRACT FROM AUTHOR]

Aim: The response of South American seasonally dry tropical forest (SDTF) and savanna species to the Quaternary climate changes is still poorly understood. Here we use multi‐model inference approach to compare the phylogeography and demographic history of five trumpet tree species (also known as pau‐d'arco) and draw general biogeographical patterns: Handroanthus impetiginosus, H. ochraceus, H. serratifolius, Tabebuia aurea and T. roseoalba. Location: Amazonia, Atlantic Forest, Cerrado and Caatinga ecoregions, South America and Brazil. Taxa: Bignoniaceae, Tabebuia Alliance, trees. Methods: We compiled genetic data, occurrence records and ecological niche modelling (ENM) from published articles. We used coalescent modelling to test patterns of co‐divergence, and analysed niche breadth and overlap and spatial patterns in genetic diversity using quantile regressions. Results: Species showed concordant lineage divergence times in the Pleistocene. Lineage diversification and phylogeographical patterns are more related to species niche breadth than to biome (savanna or SDTF). Differences in genetic diversity among species matches the expected for the demographic scenarios obtained with coalescent simulations and ENMs: species with wider range expansion during the Last Glacial Maximum had higher diversity than species with range retraction or multiple refugia. Main Conclusions: Diversification burst in the Pliocene, and major diversification of lineages during the Pleistocene seems to be a general pattern in SDTF and savannas in the South America. The high number of haplotypes at the Central Brazil, corresponding to the Cerrado ecoregion, highlights the importance of Protected Areas for SDTFs and savannas, highly threatened biomes in Brazil. [ABSTRACT FROM AUTHOR]

Identifying DNA markers such as Short Tandem Repeats (STR) can be used to investigate genetic diversity based on levels of heterozygosity within and between populations. Allele frequencies and forensic data for STRs were obtained from a sample of 384 unrelated individuals living in Bahia, Northeastern Brazil. Thus, the present study aimed to identify the allele frequency distribution, in addition to the forensic and genetic data, of 25 STR loci in the population of Bahia. Buccal swabs or fingertip punctures were utilized to amplify and detect 25 DNA markers. The most polymorphic loci were SE33 (43), D21S11, and FGA (21). The least polymorphic were TH01 (6), TPOX, and D3S1358 (7). Forensic and statistical data were obtained through data analysis, which revealed a large genetic diversity, with an average value of 0.813 for the analyzed population. The present study was more robust than previous STR marker studies and will contribute to future research on population genetics in Brazil and worldwide. The results of this study allowed the establishment of haplotypes found in the forensic samples of Bahia State to serve as a reference in the elucidation of criminal cases and paternity tests, as well as population and evolutionary investigations. [ABSTRACT FROM AUTHOR]

Background: Von Hippel‐Lindau (VHL) disease is an autosomal dominant disorder caused by pathogenic variants in VHL gene. The common manifestations include hemangioblastomas (HB) of the central nervous system (CNS) and retina (RH); pheochromocytoma (PHEO); clear cell renal cell carcinoma (ccRCC); pancreatic and renal cysts (PRC) and pancreatic neuroendocrine neoplasm (PNEN). Methods: The first characterization of VHL in Brazil was published in 2003 and included 20 families with a history of VHL. The aim of this study was to expand the previous Brazilian cohort to include more families, as well as to collect prospectively both clinical and molecular characteristics of patients with VHL to build the VHL Brazilian Registry (VHLBR). Patients with VHL were selected through review of data from medical records of experts and from social networks of support for families with VHL in Brazil. Results: A total of 142 subjects representing 62 unrelated Brazilian families with VHL were registered. The mean age of VHL onset was 28.78 years old and 128 individuals (90.1%) had at least one VHL‐related lesion. CNS HB was the most common manifestation occurring in 91 (71%) patients, followed by multiple PRC (48.4%), RH (39.8%), ccRCC (28.9%), PHEO (12.5%) and PNEN (7.8%). Of the 97 subjects whose presence of VHL variants was confirmed, 51 (52.6%) had missense variants, 22 (22.7%) large deletions, 10 (10.3%) frameshift, 7 (7.2%) splice site, 4 (4.1%) nonsense and 3 (3.1%) in‐frame deletions. Regarding surveillance, 115 (81%) participants had at least one physician responsible for their outpatient follow‐up; however, 69 (60%) of them did not report a regular frequency of tests. Conclusion: We built the largest prospective VHLBR with organized collections of clinical and genetic data from families with VHL, which will be helpful to guide policies for VHL care and oncogenetics in Brazil. Although there have been improvements in diagnosis and clinical screening methods, VHL care in Brazil is still deficient, especially regarding surveillance and regular medical appointments with experts. [ABSTRACT FROM AUTHOR]

Simple Summary: This study aimed to provide genetic data of Mansonia, a mosquito species that is an important vector of viruses and other parasites to both humans and animals. The morphological identification of this species, is quite difficult, even for experienced entomologists, and often requires the assembly of male genitalia, whose structural characters allow for accurate identification of most species, which is not always possible. The DNA sequences obtained in this study can be used for future molecular identifications of this species (DNA barcoding). The identification of mosquito species is necessary for determining the entomological components of disease transmission. However, identification can be difficult in species that are morphologically similar. The cytochrome c oxidase subunit I (COI) DNA barcode region is considered a valuable and reliable diagnostic tool for mosquito species recognition, including those that belong to species complexes. Mansonia mosquitoes are found in forests near swampy areas. They are nocturnal and are highly attracted to light. Hematophagous adult females exhibit aggressive biting behavior and can become infected with and transmit pathogens during their feeding, including some epizootic viruses and avian malaria. In Brazil, twelve Mansonia species have been reported. In a recent study from the São Paulo Zoo in Brazil, three morphologically distinct species were collected and identified, namely: Mansonia (Mansonia) indubitans, Ma. (Man.) pseudotitillans and Ma. (Man.) titillans. However, confirmation of these species by molecular identification was unsuccessful due to a lack of COI sequences in the GenBank database. Thus, this research aimed to describe the COI DNA barcode sequences of some morphologically characterized Mansonia (Man.) species from Brazil and to determine their utility in delimiting species collected from the Atlantic Forest and Brazilian Savanna. Accordingly, we provide tools for the genetic identification of species that play a significant role in pathogen transmission in wildlife and potentially humans. We show that the delimitation of Mansonia species via five different approaches based on COI DNA sequences (BI, NJ, ASAP, bPTP and GMYC) yield basically the same groups identified by traditional taxonomy, and we provide the identification of specimens that were previously identified only up to the subgenus level. We also provide COI sequences from two Mansonia species that were not previously available in sequence databases, Ma. wilsoni and Ma. pseudotitillans, and thus contribute to the ongoing global effort to standardize DNA barcoding as a molecular means of species identification. [ABSTRACT FROM AUTHOR]

The study of HIV-1 transmission networks inferred from viral genetic data can be used to clarify important factors about the dynamics of HIV-1 transmission, such as network growth rate and demographic composition. In Brazil, HIV transmission has been stable since the early 2000s and the study of transmission clusters can provide valuable data to understand the drivers of virus spread. In this work, we analyzed a nation-wide database of approximately 53,000 HIV-1 nucleotide pol sequences sampled from genotyped patients from 2008–2017. Phylogenetic trees were reconstructed for the HIV-1 subtypes B, C and F1 in Brazil and transmission clusters were inferred by applying genetic distances thresholds of 1.5%, 3.0% and 4.5%, as well as high (>0.9) cluster statistical support. An odds ratio test revealed that young men (15–24 years) and individuals with more years of education presented higher odds to cluster. The assortativity coefficient revealed that individuals with similar demographic features tended to cluster together, with emphasis on features, such as place of residence and age. We also observed that assortativity weakens as the genetic distance threshold increases. Our results indicate that the phylogenetic clusters identified here are likely representative of the contact networks that shape HIV transmission, and this is a valuable tool even in sites with low sampling density, such as Brazil. [ABSTRACT FROM AUTHOR]

Omobranchus punctatus is native to the Indo-Pacific region and invasive in the Atlantic region, currently being considered one of the most widely distributed blenny species. However, recent molecular studies indicated that O. punctatus is a complex of species, with three divergent mtDNA lineages identified to date, stressing the need for a taxonomic revision. In this study, we used an integrative approach, combining morphological and genetic data, to shed light on the taxonomy and distribution of O. punctatus. Moreover, we provide the first genetic records of introduced populations in Brazil and discuss the introduction pattern of this species in this region. Morphological data shows that O. punctatus consists of at least five distinct and geographically restricted species: O. punctatus sensu stricto, O. dispar, O. sewalli, O. cf. kochi, and O. cf. japonicus. Species delimitation analyses performed using the mtDNA data available confirmed that O. punctatus sensu stricto, O. dispar and O. sewalli correspond to different species that started to diverge about 2.6 Mya. Furthermore, O. sewalli was identified as the invasive species colonizing Atlantic shores. The existence of historical oceanographic barriers, such as the emergence of the Sunda Shelf in the Eastern Indian Ocean during the Pleistocene, and the biological traits of these blennies are the most likely factors responsible for their genetic differentiation and subsequent speciation. [ABSTRACT FROM AUTHOR]

Native American populations from the Brazilian Amazon have a low genetic diversity and a different genetic profile when compared to people from other continents. Despite this, few studies have been conducted in this group, and there is no description of their genetic data in the various currently existent international databases. The characterization of the genomic profile of a population not only has an impact in studies of population genetics, but also helps to advance diagnostic and therapeutic response studies, leading to the optimization of clinical applicability. Genetic variations in DNA repair genes have been associated with the modulation of susceptibility to various pathologies, as well as in their prognosis and therapy. This is the first study to investigate DNA repair genes in Amerindians from the Brazilian Amazon region. We investigated 13 important DNA repair genes in the exome of 63 Native Americans, comparing our results with those found in 5 continental populations, whose data are available in the Genome Aggregation Database. Our results showed that 57 variants already described in literature were differentially distributed in the Amerindian populations in relation to the continental populations, 7 of which have significant clinical relevance. In addition, 9 new variants were described, suggesting that they are unique to these populations. Our study reinforces the understanding that the Amazonian Native American population presents a unique genetic profile, and our findings may collaborate with the creation of public policies that optimize the quality of life of these groups as well as the Brazilian population, which presents a high degree of interethnic mixing with Amerindian groups. [ABSTRACT FROM AUTHOR]

As species recover from exploitation, continued assessments of connectivity and population structure are warranted to provide information for conservation and management. This is particularly true in species with high dispersal capacity, such as migratory whales, where patterns of connectivity could change rapidly. Here we build on a previous long-term, large-scale collaboration on southern right whales (Eubalaena australis) to combine new (n new ) and published (n pub ) mitochondrial (mtDNA) and microsatellite genetic data from all major wintering grounds and, uniquely, the South Georgia (Islas Georgias del Sur: SG) feeding grounds. Specifically, we include data from Argentina (n pub mtDNA/microsatellite = 208/46), Brazil (n new mtDNA/microsatellite = 50/50), South Africa (n new mtDNA/microsatellite = 66/77, n pub mtDNA/microsatellite = 350/47), Chile–Peru (n new mtDNA/microsatellite = 1/1), the Indo-Pacific (n pub mtDNA/microsatellite = 769/126), and SG (n pub mtDNA/microsatellite = 8/0, n new mtDNA/microsatellite = 3/11) to investigate the position of previously unstudied habitats in the migratory network: Brazil, SG, and Chile–Peru. These new genetic data show connectivity between Brazil and Argentina, exemplified by weak genetic differentiation and the movement of 1 genetically identified individual between the South American grounds. The single sample from Chile–Peru had an mtDNA haplotype previously only observed in the Indo-Pacific and had a nuclear genotype that appeared admixed between the Indo-Pacific and South Atlantic, based on genetic clustering and assignment algorithms. The SG samples were clearly South Atlantic and were more similar to the South American than the South African wintering grounds. This study highlights how international collaborations are critical to provide context for emerging or recovering regions, like the SG feeding ground, as well as those that remain critically endangered, such as Chile–Peru. [ABSTRACT FROM AUTHOR]

The movement of organisms or genes among resource patches is fundamental to the persistence of natural populations over time. Species occurring in rock outcrops may have difficulty maintaining genetic connectivity due to the natural disjunct distribution of these formations, which may lead to genetic differentiation. In this study, we tested the hypothesis of genetic isolation among populations of Deuterocohnia meziana on rock outcrops in Brazil. We evaluated genetic diversity and structure, number of migrants, and the contribution of pollen and seed to dispersal. Additionally, we used niche modelling to estimate the potential distribution of D. meziana and combined this with genetic data to identify potential dispersal routes under different climatic scenarios from the Quaternary. Deuterocohnia meziana showed high diversity and moderate genetic structure, low number of migrants and more efficient dispersal by pollen. Only populations separated by > 70 km showed genetic differentiation. Dispersal routes varied mainly in the intensity of the environmental suitability and indicated the present scenario as the most favourable for gene flow in D. meziana. Our findings contribute to the understanding of processes related to the connectivity and isolation of naturally fragmented populations, highlighting the role of biotic and abiotic drivers for genetic differentiation. [ABSTRACT FROM AUTHOR]

The common octopus of the Veracruz Reef System (VRS, southwestern Gulf of Mexico) has historically been considered as Octopus vulgaris, and yet, to date, no study including both morphological and genetic data has tested that assumption. To assess this matter, 52 octopuses were sampled in different reefs within the VRS to determine the taxonomic identity of this commercially valuable species using an integrative taxonomic approach through both morphological and genetic analyses. Morphological and genetic data confirmed that the common octopus of the VRS is not O. vulgaris and determined that it is, in fact, the recently described O. insularis. Morphological measurements, counts, indices, and other characteristics such as specific colour patterns, closely matched what had been reported for O. insularis in Brazil. In addition, sequences from cytochrome oxidase I (COI) and 16S ribosomal RNA (r16S) mitochondrial genes confirmed that the common octopus from the VRS is in the same highly supported clade as O. insularis from Brazil. Genetic distances of both mitochondrial genes as well as of cytochrome oxidase subunit III (COIII) and novel nuclear rhodopsin sequences for the species, also confirmed this finding (0–0.8%). We discuss our findings in the light of the recent reports of octopus species misidentifications involving the members of the ‘O. vulgaris species complex’ and underscore the need for more morphological studies regarding this group to properly address the management of these commercially valuable and similar taxa. [ABSTRACT FROM AUTHOR]

The rocky intertidal gastropods Agathistoma viridulum and A. hotessierianum occur from the Caribbean to southern Brazil, with a gap in the equatorial region, giving them an anti‐tropical distribution. We used sequences from mitochondrial genes to elucidate the phylogeography of A. viridulum and A. hotessierianum and to infer their relationships to other species of Agathistoma. For A. hotessierianum, haplotype networks and phylogenetic analyses split samples into two distinct groups: one (A. hotessierianum) in the Caribbean region (Greater and Lesser Antilles; Venezuela: Sucre and Isla Margarita) and a new species that we describe from northeastern Brazil. For A. viridulum, genetic analyses split the samples into three groups (Caribbean, northeastern Brazil and southeastern Brazil), but genetic divergence among these was too low for them to be considered species, and morphological differences were not significant. The mtDNA tree identified two clades of eastern Pacific Agathistoma, but many lower‐level relationships within Agathistoma were not well resolved, suggesting that more complete taxon sampling and additional genetic data will be needed to establish more robust relationships among Tegulinae. [ABSTRACT FROM AUTHOR]

Background: The golden lion tamarin (Leontopithecus rosalia) is an endangered Platyrrhine primate endemic to the Atlantic coastal forests of Brazil. Despite ongoing conservation efforts, genetic data on this species remains scarce. Complicating factors include limitations on sample collection and a lack of high-quality reference sequences. Here, we used nanopore adaptive sampling to resequence the L. rosalia mitogenome from feces, a sample which can be collected non-invasively. Results: Adaptive sampling doubled the fraction of both host-derived and mitochondrial sequences compared to sequencing without enrichment. 258x coverage of the L. rosalia mitogenome was achieved in a single flow cell by targeting the unfinished genome of the distantly related emperor tamarin (Saguinus imperator) and the mitogenome of the closely related black lion tamarin (Leontopithecus chrysopygus). The L. rosalia mitogenome has a length of 16,597 bp, sharing 99.68% sequence identity with the L. chrysopygus mitogenome. A total of 38 SNPs between them were identified, with the majority being found in the non-coding D-loop region. DNA methylation and hydroxymethylation were directly detected using a neural network model applied to the raw signal from the MinION sequencer. In contrast to prior reports, DNA methylation was negligible in mitochondria in both CpG and non-CpG contexts. Surprisingly, a quarter of the 642 CpG sites exhibited DNA hydroxymethylation greater than 1% and 44 sites were above 5%, with concentration in the 3′ side of several coding regions. Conclusions: Overall, we report a robust new mitogenome assembly for L. rosalia and direct detection of cytosine base modifications in all contexts. [ABSTRACT FROM AUTHOR]

Background: Hybridization associated with polyploidy studies is rare in the tropics. The genus Zygopetalum (Orchidaceae) was investigated here as a case study of Neotropical plants. In the rocky highlands of the Ibitipoca State Park (ISP), southeast Brazil, individuals with intermediate colors and forms between the species Z. maculatum and Z. triste were commonly identified., Methods and Results: Chromosomal analysis and DNA quantity showed a uniform population. Regardless of the aspects related to the color and shape of floral structures, all individuals showed 2n = 96 chromosomes and an average of 14.05 pg of DNA. Irregularities in meiosis associated with chromosome number and C value suggest the occurrence of polyploidy. The genetic distance estimated using ISSR molecular markers revealed the existence of genetic variability not related to morphological clusters. Morphometric measurements of the flower pieces revealed that Z. maculatum shows higher variation than Z. triste although lacking a defined circumscription., Conclusion: The observed variation can be explained by the polyploid and phenotypic plasticity resulting from the interaction of the genotypes with the heterogeneous environments observed in this habitat., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

The nematode family Spirocercidae Chitwood and Wehr, 1932, comprises three subfamilies, Spirocercinae Chitwood and Wehr, 1932; Ascaropsinae Alicata and McIntosh, 1933; and Mastophorinae Quentin, 1970, which occur worldwide. Spirocercids infect canids and can cause severe illness. The crab-eating fox, Cerdocyon thous (Linnaeus, 1766), is a canid that inhabits most of South America, including Brazil and is a host for several parasitic worms, in particular, nematodes. However, few reports or genetic data are available on the spirocercids found in this host. In the present study, we describe a new species of Spirobakerus Chabaud and Bain 1981, from the intestine of two crab-eating foxes from two different biomes in Brazil. Spirobakerus sagittalis sp. nov. presents a) unequal spicules, with a long, thin left spicule with a lanceolated shape at the tip; b) a pair of sessile papillae and a median unpaired papillae located anteriorly of the cloaca, and c) a tuft without spines at the tip of the tail in females. The molecular phylogenetic analysis indicated that S. sagittalis sp. nov. is basal to the other species of the subfamily Ascaropsinae, which was not recovered as monophyletic. Our phylogenies also indicated that Spirocercidae is paraphyletic, given that Mastophorinae did not group with Ascaropsinae and Spirocercinae. We provide the first molecular data on the genus Spirobakerus and expand the molecular database of the spirocercids. However, further studies, including the sequences of other spirocercid taxa, are still needed to infer the relationships within this family more accurately. [ABSTRACT FROM AUTHOR]

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Purpose: Mycobacterium bovis Bacillus Calmette-Guérin (BCG) is the only vaccine licensed against tuberculosis. Despite the protection offered by the vaccine, in some circumstances children and immunocompromised individuals can develop associated infections, known as BCGitis. Drug susceptibility patterns of BCG clinical strains have rarely been described. We aimed to describe the susceptibility pattern of BCG clinical strains isolated in two different countries. Methods: We performed culture-based drug susceptibility testing of thirty one BCG strains isolated from patients in Brazil (n=5, 16%) and Argentina (n=26, 84%) using the broth micro-dilution method (phenotypic method). Final antibiotic concentrations for susceptibility testing ranged from 0.5 to 16 mg/L for amikacin, 0.3125 to 10 mg/L for ethambutol, 0.05 to 1.6 mg/L for isoniazid and 0.25 to 8 mg/L for rifampicin, streptomycin and ofloxacin. Additionally, we compared the results with genetic data obtained by whole genome sequencing. Results: By using the phenotypic method we detected one strain resistant to ethambutol, three strains resistant to rifampicin and one resistant to isoniazid. Additionally, two strains that were phenotypically resistant to both isoniazid and rifampicin carried mutations in the katG and rpoB genes simultaneously. Conclusion: There is evidence of the emergence of BCG-resistant strains isolated from vaccine-related complications. We recommend drug susceptibility testing of the BCG strain causing the infection in order to prevent treatment failure. [ABSTRACT FROM AUTHOR]

Habitat loss is the main threat to biodiversity conservation worldwide. Some species may be particularly susceptible to the effects of fragmentation and the isolation of populations. The impacts of human activity on wild animal populations may be understood through relationships between individual genetic data and spatial landscape variables, particularly when considering local population dynamics influenced by fragmented habitats. Thus, the objective of this study was to analyze the population structure and genetic diversity of the giant anteater (Myrmecophaga tridactyla) using an individual sampling scheme (ISS) on a regional geographic scale. Data were collected from 41 specimens from twenty different locations in São Paulo State, Brazil, and six polymorphic microsatellite loci were genotyped. Our results indicate that barriers to gene flow exist and have segregated individuals of the farther away areas into two spatially structured clusters. The populations were also found to have high genetic diversity. The experimental sampling approach used herein enabled an analysis of the population dynamics of the giant anteater on a regional scale, as well as the identification of priority populations for genetic resource conservation for this species. The results reflect the need for adequate management plans. The efficacy of the sampling scheme may vary based on the study model used, but we argue that the use of an ISS combined with suitable molecular markers and statistical methods may serve as an important tool for initial analyses of threatened or vulnerable species, particularly in anthropized regions where populations are small or hard to characterize. [ABSTRACT FROM AUTHOR]

Coastal and offshore ecotypes of common bottlenose dolphins have been recognized in the western South Atlantic, and it is possible that trophic niche divergence associated with social interactions is leading them to genetic and phenotypic differentiation. The significant morphological differentiation observed between these ecotypes suggests they represent two different subspecies. However, there is still a need to investigate whether there is congruence between morphological and genetic data to rule out the possibility of ecophenotypic variation accompanied by gene flow. Mitochondrial DNA (mtDNA) control region sequence data and 10 microsatellite loci collected from stranded and biopsied dolphins sampled in coastal and offshore waters of Brazil as well as 106 skulls for morphological analyses were used to determine whether the morphological differentiation was supported by genetic differentiation. There was congruence among the data sets, reinforcing the presence of two distinct ecotypes. The divergence may be relatively recent, however, given the moderate values of mtDNA nucleotide divergence (dA = 0.008), presence of one shared mtDNA haplotype and possibly low levels of gene flow (around 1% of migrants per generation). Results suggest the ecotypes may be in the process of speciation and reinforce they are best described as two different subspecies until the degree of nuclear genetic divergence is thoroughly evaluated: Tursiops truncatus gephyreus (coastal ecotype) and T. t. truncatus (offshore ecotype). The endemic distribution of T. t. gephyreus in the western South Atlantic and number of anthropogenic threats in the area reinforces the importance of protecting this ecotype and its habitat. [ABSTRACT FROM AUTHOR]

Information on demographic, genetic, and environmental parameters of wild and captive animal populations has proven to be crucial to conservation programs and strategies. Genetic approaches in conservation programs of Brazilian snakes remain scarce despite their importance for critically endangered species, such as Bothrops insularis, the golden lancehead, which is endemic to Ilha da Queimada Grande, coast of São Paulo State, Brazil. This study aims to (a) characterize the genetic diversity of ex situ and in situ populations of B. insularis using heterologous microsatellites; (b) investigate genetic structure among and within these populations; and (c) provide data for the conservation program of the species. Twelve informative microsatellites obtained from three species of the B. neuwiedi group were used to access genetic diversity indexes of ex situ and in situ populations. Low‐to‐medium genetic diversity parameters were found. Both populations showed low—albeit significant—values of system of mating inbreeding coefficient, whereas only the in situ population showed a significant value of pedigree inbreeding coefficient. Significant values of genetic differentiation indexes suggest a small differentiation between the two populations. Discriminant analysis of principal components (DAPC) recovered five clusters. No geographic relationship was found in the island, suggesting the occurrence of gene flow. Also, our data allowed the establishment of six preferential breeding couples, aiming to minimize inbreeding and elucidate uncertain parental relationships in the captive population. In a conservation perspective, continuous monitoring of both populations is demanded: it involves the incorporation of new individuals from the island into the captive population to avoid inbreeding and to achieve the recommended allelic similarity between the two populations. At last, we recommend that the genetic data support researches as a base to maintain a viable and healthy captive population, highly genetically similar to the in situ one, which is crucial for considering a reintroduction process into the island. [ABSTRACT FROM AUTHOR]

Recently, Proceratophrys cristiceps was redescribed along with the description of two species from the Caatinga biome: P. aridus and P. caramaschii. However, only a small fraction of the populations related to such species in Northeastern Brazil was examined, and most populations of central Caatinga were not contemplated in this analysis. Comparisons were also based exclusively on external morphology, precluding a more accurate delimitation of such taxa in the light of multiple characters. Such geographic paucity and reliance in only one data source caused the species status of most central Caatinga populations to be uncertain. Thus, the revision of Proceratophrys populations from the Caatinga biome is of utmost importance to establish a solid taxonomic background and to test the validity of the described species. Based on morphologic, morphometric, acoustic, and multilocus genetic data, we define the range of inter‐ and intrapopulation variation in the parameters we analyzed, establishing which ones are useful as diagnostic characters for Proceratophrys in the Caatinga. We found no evidence supporting P. aridus and P. caramaschii as distinct species and thus place them as junior synonyms of P. cristiceps. Our results reinforce the importance of using multiple lines of evidence to avoid taxonomic instability. [ABSTRACT FROM AUTHOR]

Pareiorhaphis hystrix is a widely distributed species, occurring in the upper and middle Uruguay River and in the Taquari River basin, Patos Lagoon system, southern Brazil. Morphological variation has been detected throughout the distribution of P. hystrix, and this work seeks to test the conspecific nature of populations in several occurrence areas. Specimens from six areas in the Uruguay River basin and three in the Taquari River basin were compared. Variance analysis (ANOVA) was performed for the meristic data, and Principal Component Analysis (PCA) and Linear Discriminant Analysis (LDA) were conducted for morphometric data. Molecular analyses used coI, cytb, 12S and 16S mitochondrial genes, examining nucleotide diversity, haplotype diversity, genetic distance, and delimitation of possible multiple species through the Generalized Mixed Yule Coalescent (GMYC) method. Phylogenetic relationships of studied populations were also investigated through Bayesian inference. While PCA indicated a tendency of overlap between areas, ANOVA and LDA detected a subtle differentiation between populations from the two hydrographic basins. Yet, both latter analyses recovered the population from Pelotas River, a tributary to Uruguay River, as more similar to populations from Taquari River, which is congruent to morphological observations of anterior abdominal plates. The molecular data indicated a nucleotide diversity lower than the haplotypic diversity, suggestive of recent expansion. The concatenated haplotype network points to slight differentiation between areas, with each locality presenting unique and non-shared haplotypes, although with few mutational steps in general. The species delimitation by coalescence analysis suggested the presence of a variable number of OTUs depending on the inclusion or exclusion of an outgroup. In general, the morphological data suggest a subtle variation by river basin, while the genetic data indicates a weak population structuration by hydrographic areas, especially the Chapecó and Passo Fundo rivers. However, there is still not enough differentiation between the specimens to suggest multiple species. The iterative analyses indicate that Pareiorhaphis hystrix is composed of a single, although variable, species. [ABSTRACT FROM AUTHOR]