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We carried out an exhaustive review regarding human skin color variation and how much it may be related to vitamin D metabolism and other photosensitive molecules. We discuss evolutionary contexts that modulate this variability and hypotheses postulated to explain them; for example, a small amount of melanin in the skin facilitates vitamin D production, making it advantageous to have fair skin in an environment with little radiation incidence. In contrast, more melanin protects folate from degradation in an environment with a high incidence of radiation. Some Native American populations have a skin color at odds with what would be expected for the amount of radiation in the environment in which they live, a finding challenging the so-called "vitamin D-folate hypothesis." Since food is also a source of vitamin D, dietary habits should also be considered. Here we argue that a gene network approach provides tools to explain this phenomenon since it indicates potential alleles co-evolving in a compensatory way. We identified alleles of the vitamin D metabolism and pigmentation pathways segregated together, but in different proportions, in agriculturalists and hunter-gatherers. Finally, we highlight how an evolutionary approach can be useful to understand current topics of medical interest.

The flying fox (Pteropus giganteus) also familiar with the name of the greater Indian fruit Bat belongs to the order Chiroptera and family Pteropodidae. Current research emphasis on the DNA barcoding of P. giganteus in Azad Jammu Kashmir. Bat sequences were amplified and PCR products were sequenced and examined by bioinformatics software. Congeneric and conspecific, nucleotide composition and K2P nucleotide deviation, haplotype diversity and the number of haplotypes were estimated. The analysis showed that all of the five studied samples of P. giganteus had low G contents (G 19.8%) than C (27.8%), A (25.1%) and T (27.3%) contents. The calculated haplotype diversity was 0.60% and the mean intraspecific K2P distance was 0.001% having a high number of transitional substitutions. The study suggested that P. giganteus (R=0.00) do not deviate from the neutral evolution. It was determined from the conclusion that this mtDNA gene is a better marker for identification of Bat species than nuclear genes due to its distinctive characteristics and may serve as a landmark for the identification of interconnected species at the molecular level and in the determination of population genetics. Resumo A raposa-voadora (Pteropus giganteus), também conhecida como morcego indiano, pertence à ordem dos Chiroptera e à família Pteropodidae. A presente pesquisa dá ênfase ao código de barras de DNA de P. giganteus em Azad Jammu e Caxemira. Sequências genéticas dos morcegos foram amplificadas, e os produtos de PCR foram sequenciados e examinados por software de bioinformática. De espécies congenérica e coespecífica, foram estimados composição nucleotídica e desvio de nucleotídeos K2P, diversidade de haplótipos e número de haplótipos. A análise mostrou que todas as cinco amostras estudadas de P. giganteus apresentaram baixos teores de G (19,8%) em comparação com C (27,8%), A (25,1%) e T (27,3%). A diversidade de haplótipos calculada foi de 0,60%, e a distância média intraespecífica de K2P foi de 0,001%, com um elevado número de substituições transicionais. O estudo sugeriu que P. giganteus (R = 0,00) não se desviou da evolução neutra. É possível concluir que o gene mtDNA é um marcador favorável para identificação de espécies de morcegos do que genes nucleares por causa de suas características distintivas e pode servir como um marco para a identificação de espécies interconectadas em nível molecular e para a determinação genética de populações.

ABSCTRACT: Eugenia involucrata DC. is a forest species with high environmental and economic potential. The objective of this study was to quantify the genetic variability and analyzed the genetic structure of three natural fragments located in the central region of the Rio Grande do Sul state, Brazil. We used four microsatellite loci developed for the congener species Eugenia uniflora and using GenAlEx 6.5 software, parameters of genetic variability and its partition among and within fragments were estimated for each locus. We observed high levels of genetic variability (3.67 alleles per locus; HO = 0.815; HE = 0.625; FIS = −0.294), most of which (93%) were distributed within the fragments, suggesting that these individuals came from a single original population. Gene flow between fragments was high (2.35 to 4.56 migrants per generation), resulting in low genetic differentiation indexes (FST values ranging from 0.052 to 0.096). The fragments showed high genetic variability, distributed within the remnants themselves, and low genetic differentiation. Our results have repercussions for planning locally adapted germplasm collections for forest restoration programs, thereby avoiding the implantation of populations with an exogamous depression. RESUMO: Eugenia involucrata DC. é uma espécie florestal com elevado potencial ambiental e econômico. O presente trabalho teve por objetivo quantificar a variabilidade e analisar a estruturação genética em três fragmentos naturais localizados na região central do estado do Rio Grande do Sul, Brasil. Com o emprego de quatro locos microssatélites desenvolvidos para a espécie congênere Eugenia uniflora e usando-se o software GenAlEx 6.5, foram estimados parâmetros de variabilidade genética, para cada loco, e sua partição entre e dentro dos fragmentos. Foram observados altos índices de variabilidade genética (3,67 alelos por loco; HO = 0,815; HE = 0,625; FIS = -0,294), com a maior proporção (93%) distribuída dentro dos fragmentos, sugerindo que os indivíduos estudados são provenientes de uma única população original. O fluxo gênico foi elevado entre os fragmentos, variando de 2,35 a 4,56 migrantes por geração, resultando em baixo índice de diferenciação genética (FST), entre 0,052 a 0,096. Os fragmentos estudados apresentam elevada variabilidade genética, a maior parte distribuída dentro dos próprios remanescentes, e baixa diferenciação genética. Os resultados observados têm repercussões no planejamento de coleta de germoplasma com adaptação local para programas de restauração florestal, assim evitando a implantação de populações com depressão exogâmica.

Phenotypic variation among populations, as seen in the signaling traits of many species, provides an opportunity to test whether similar factors generate repeated phenotypic patterns in different parts of a species' range. We investigated whether genetic divergence, abiotic gradients, and sympatry with closely related species explain variation in the dewlap colors of Amazon Slender Anoles, Anolis fuscoauratus. To this aim, we characterized dewlap diversity in the field with respect to population genetic structure and evolutionary relationships, assessed whether dewlap phenotypes are associated with climate or landscape variables, and tested for nonrandom associations in the distributions of A. fuscoauratus phenotypes and sympatric Anolis species. We found that dewlap colors vary among but not within sites in A. fuscoauratus. Regional genetic clusters included multiple phenotypes, while populations with similar dewlaps were often distantly related. Phenotypes did not segregate in environmental space, providing no support for optimized signal transmission at a local scale. Instead, we found a negative association between certain phenotypes and sympatric Anolis species with similar dewlap color attributes, suggesting that interactions with closely related species promoted dewlap divergence among A. fuscoauratus populations. Amazon Slender Anoles emerge as a promising system to address questions about parallel trait evolution and the contribution of signaling traits to speciation.

Besides reviewing the unusual case of sex-ratio in the lemming and presenting alternative analyses of general models in which the shift in the usual sex-ratio 1:1 is determined by autosomal or sex-linked mutant alleles, three novel models are presented, in which the shift on the progeny sex-ratio depends on the number of copies of a mutant allele present in the parental pair. The analysis of these models with additive effects shows that: 1) autosomal mutations that alter the usual sex-ratio are eliminated from the population; 2) mutations occurring on the X chromosome lead to an evolutionary stable 1:1 sex-ratio only if the mutation favors the production of males; when the mutant allele favors the production of females, however, females will prevail in the population, with a frequency dependent impact on δ (the deviation from the usual 0.5 proportion) ; for most of the range of possible values of δ the stable but extraordinary sex-ratio will vary from 1 male : 1 female to 1 male : 3 females or 1 male : 2 females approximately depending whether the mutant allele is randomly inactivated or not.

Juçara (Euterpe edulis Martius) is a palm species from the Atlantic Forest whose fruits are important as a source of food to several individuals from the fauna of the region. Despite its ecological importance, juçara is found in the list of endangered species, due to the fragmentation of the forests and the illegal extraction of the heart of palm. We aimed to evaluate the inter- and intra-populational genetic diversity of E. edulis based on fruit and seed traits in forest fragments of the Espírito Santo State in Brazil. The aim was to generate information to be used in E. edulis breeding programs, or in the delineation of more efficient management and reforestation strategies. The study was carried out in 20 forest fragments and 198 fruit plants were sampled. Positive genetic association was observed between the evaluated traits, with the longitudinal diameter of the fruit (LDF) and the seed mass (SM) greatly affecting fruit mass (FM). The existence of inter- and intra-populational genetic divergence was proved. The genetic divergence found in E. edulis suggests that there is genetic material that can be explored in breeding programs and this information may also contribute to management strategies that can increase the species genetic diversity. Juçara (Euterpe edulis Martius) é uma espécie de palmeira da Mata Atlântica, que é importante como fonte de alimento para vários indivíduos da fauna. Apesar de sua importância ecológica, juçara é encontrada na lista de espécies ameaçadas à extinção, devido à fragmentação florestal e à extração ilegal do palmito. Nós tivemos como objetivo avaliar a diversidade genética inter e intra populacional de E. edulis com base em caracteres de frutos e sementes, em fragmentos florestais do Estado do Espírito Santo no Brasil, com o objetivo de gerar informações a serem utilizadas nos programas de melhoramento de E. edulis ou na delimitação de estratégias de manejo e reflorestamento mais eficientes. O estudo foi realizado em 20 fragmentos florestais e 198 plantas frutíferas foram amostradas. Foi observada uma grande associação genética positiva entre os caracteres avaliados, com as características diâmetro longitudinal dos frutos (LDF) e massa de sementes (SM) apresentando efeitos maiores do que a massa característica da fruta (FM). A existência de divergência genética inter e intrapopulacional foi comprovada. A divergência genética encontrada neste trabalho para E. edulis sugere a presença de material genético que vale a pena ser explorado em programas de melhoramento e essa informação também pode contribuir com estratégias de manejo para aumentar a diversidade genética das espécies.

Mitochondrial DNA (mtDNA) regions have been widely used as molecular markers in evolutionary studies and species identification. However, the presence of heteroplasmy and NUMTs may represent obstacles. Heteroplasmy is a state where an organism has different mitochondrial haplotypes. NUMTs are nuclear pseudogenes originating from mtDNA sequences transferred to nuclear DNA. Evidences of heteroplasmy were already verified in the bumblebee Bombus morio in an earlier study. The present work investigated in more detail the presence of intra-individual haplotypes variation in this species. Heteroplasmy was detected in individuals from all the ten sampled locations, with an average of six heteroplasmic haplotypes per individual. In addition, some of these heteroplasmic haplotypes were shared among individuals from different locations, suggesting the existence of stable heteroplasmy in B. morio. These results demonstrated that heteroplasmy is likely to affect inferences based on mtDNA analysis, especially in phylogenetic, phylogeographic and population genetics studies. In addition, NUMTs were also detected. These sequences showed divergence of 2.7% to 12% in relation to the mitochondrial haplotypes. These levels of divergence could mislead conclusions in evolutionary studies and affect species identification through DNA barcoding.

Brycon nattereri is an endangered Neotropical fish reported along conserved stretches of the upper Paraná, Tocantins and São Francisco rivers. Populations of this species have been very rare in some Paraná River sub basins. This study analyzes the genetic diversity and population structure of B. nattereri in a restricted area of occurrence recently identified in upper Paraná River basin. Seven microsatellite loci and 497 bp of D-Loop mitochondrial region were examined in 92 individuals from four points along the area of occurrence. Both molecular markers indicated a single population distributed along a stretch of the river approximately 80 km long. Although some of the data suggest an ancient bottleneck, current levels of genetic diversity (H E = 0.574 and h = 0.616) were similar to those of other species of the genus Brycon. The results suggest that the population of B. nattereri has been able to maintain satisfactory levels of genetic diversity, in spite of the small area of occurrence. These data have highlighted an important conservation area and action may prove essential to improve the quality of the environment, and especially the water and riparian plant life, if the area is to be managed and conserved efficiently.

EnglishSamples of 168 mate trees (Ilex paraguariensis) from four natural populations of different states of Brazil (Rio Grande do Sul, Santa Catarina, Parana and Mato Grosso do Sul) were analyzed for their variability in storage proteins seed, which were used to estimate the degree of differentiation among and within species, because are relatively stable during evolution. Data on band presence/absence from 80 different polypeptides were used to perform similarity coefficient of Jaccard. A high level of genetic variability was reported within sampled populations (SJ intra=0.374). Lower levels of diversity were observed between populations (SJ inter=0.308). Total genetic diversity of mate was Hsp=0.264 estimated by Shannon measure. Partition of that value disclosed that 95 % of the total diversity is within-population, and only 5% to between-populations. The phenogram based on King’s distances indicates a certain degree of geographic differentiation. This represents the first study on storage protein variability in I. paraguariensis and guides the choice of the specimens to increment germoplasm banks and genetic improvement programs. Key words: ‘chimarrao’; germoplasm banks; population genetics portuguesA variabilidade de proteinas de reserva das sementes foi analisada em 168 arvores de quatro populacoes naturais de erva-mate (Ilex paraguariensis) dos estados brasileiros Rio Grande do Sul, Santa Catarina, Parana e Mato Grosso do Sul. Estes marcadores foram utilizados para estimar o grau de diferenciacao entre e dentro da especie porque sao relativamente estaveis ao longo da evolucao. Dados sobre presenca e ausencia de bandas de 80 diferentes polipeptidios foram utilizados para calcular o coeficiente de similaridade de Jaccard. Encontramos alto grau de variabilidade genetica dentro de cada uma das quatro populacoes de arvores (SJ intra=0.374). Menores niveis de diversidade foram observados entre as populacoes (SJ inter=0.308). A diversidade total da especie Ilex foi Hsp=0,264, estimada pela medida de Shannon. A particao deste valor revelou que 95% da diversidade total e intrapopulacional, enquanto somente 5% e entre populacoes. O fenograma, baseado nas distâncias de King, indica certo grau de diferenciacao geografica. Este trabalho representa o primeiro estudo de variabilidade em proteinas de reserva de I. paraguariensis e pode ser utilizado para orientar a escolha de especimes para compor bancos de germoplasma e programas de melhoramento genetico da especie. Palavras-chave: bancos de germoplasma; chimarrao; erva-mate; genetica de populacoes.

The coffee leaf miner, Leucoptera coffeella (Guerin-Meneville & Perrottet, 1842), probably infested coffee plants in Neotropical America during the 19th century. The species subsequently became a key pest of coffee plants in Brazil, but not in Colombia, the two main coffee producers in the region. The contrasting importance of the coffee leaf miner in Brazil and Colombia may be the result of the evolutionary and demographic history of this species. Therefore, our goal was to test two alternative hypotheses regarding the possible genetic origins of this species: 1) leaf miners in both countries share the same origin and 2) the leaf miner arrived in both countries independently from distinct sources and subsequently diversified without genetic exchange between countries. Thus, DNA sequence data of 21 populations were collected (Brazil, 16; Colombia, 5), and partial sequences of their cytochrome oxidase subunit I (COI), cytochrome b (Cytb), and the nuclear internal transcribed spacer (ITS) region were obtained to test these hypotheses. Both nuclear and mitochondrial molecular markers showed low nucleotide diversity. Analyses of molecular variance indicated higher variability within population in both concatenated mitochondrial genes and ITS region (70.57 and 84.01%, respectively). Finally, geno/haplotype networks showed each central geno/haplotypes that displayed high frequency and were distributed widely in both countries. Low-frequency geno/haplotypes were at tip positions connected to the central geno/haplotypes through single mutation steps, suggesting that the Neotropical coffee leaf miner in both Brazil and Colombia consists of a single species and exhibits a common and recent genetic origin.

Studies of genetic diversity and structure are key elements in designing effective in situ and ex situ management plans, especially for species experiencing forest fragmentation. To investigate the level of genetic diversity in populations of Trichocentrum pumilum, eight polymorphic microsatellite loci were developed and used for genotyping 96 specimens from four disturbed populations. Low genetic diversity within populations was found (average number of alleles per locus ranging from 3.75 to 4.25, observed and expected heterozygosities from 0.238 to 0.333 and from 0.450 to 0.482, respectively). The fixation index () ranged from 0.35 to 0.47, with significant values for all populations. No genotypic disequilibrium was detected. A mixed breeding system was found through an apparent outcrossing rate estimate. Our results suggest that these microsatellite loci are suitable for genetic studies of this species, showing low within population genetic diversity and moderate structure for T. pumilum populations.

We report genome-wide ancient DNA from 49 individuals forming four parallel time transects in Belize, Brazil, the Central Andes, and the Southern Cone, each dating to at least ∼9,000 years ago. The common ancestral population radiated rapidly from just one of the two early branches that contributed to Native Americans today. We document two previously unappreciated streams of gene flow between North and South America. One affected the Central Andes by ∼4,200 years ago, while the other explains an affinity between the oldest North American genome associated with the Clovis culture and the oldest Central and South Americans from Chile, Brazil, and Belize. However, this was not the primary source for later South Americans, as the other ancient individuals derive from lineages without specific affinity to the Clovis-associated genome, suggesting a population replacement that began at least 9,000 years ago and was followed by substantial population continuity in multiple regions. A large-scale analysis of ancient genomes from Central and South America yields insights into the peopling of the Americas, including four southward population spreads and notable population continuity in much of South America after arrival.

Environmental gradients constrain physiological performance and thus species’ ranges, suggesting that species occurrence in diverse environments may be associated with local adaptation. Genome–environment association analyses (GEAA) have become central for studies of local adaptation, yet they are sensitive to the spatial orientation of historical range expansions relative to landscape gradients. To test whether potentially adaptive genotypes occur in varied climates in wide‐ranged species, we implemented GEAA on the basis of genomewide data from the anole lizards Anolis ortonii and Anolis punctatus, which expanded from Amazonia, presently dominated by warm and wet settings, into the cooler and less rainy Atlantic Forest. To examine whether local adaptation has been constrained by population structure and history, we estimated effective population sizes, divergence times, and gene flow under a coalescent framework. In both species, divergence between Amazonian and Atlantic Forest populations dates back to the mid‐Pleistocene, with subsequent gene flow. We recovered eleven candidate genes involved with metabolism, immunity, development, and cell signaling in A. punctatus and found no loci whose frequency is associated with environmental gradients in A. ortonii. Distinct signatures of adaptation between these species are not associated with historical constraints or distinct climatic space occupancies. Similar patterns of spatial structure between selected and neutral SNPs along the climatic gradient, as supported by patterns of genetic clustering in A. punctatus, may have led to conservative GEAA performance. This study illustrates how tests of local adaptation can benefit from knowledge about species histories to support hypothesis formulation, sampling design, and landscape gradient characterization.

A worldwide decline of many bee species has been reported, but conversely some species seems to be in expansion. Nonetheless species truly in expansion may be overestimated, especially when they are considered as a whole, and information about intraspecific lineages is lacking. The objective of this study was to test whether the bumblebee species Bombus morio and B. pauloensis will be safe under future climate changes. Specifically, test if these bees will suffer geographic decline or expansion; test whether each phylogeographic lineage within B. pauloensis will respond differently in modeling of future geographic distribution given climate change; find stable areas holding high genetic diversity based on predicted future climatic changes; and test whether these areas are covered by existing protected areas. To reach the objectives we performed analyses using phylogeographic data already available and climate change information to model the demography of the panmictic B. morio and the phylogeographic lineages in B. pauloensis. Our results suggest that both species will suffer a reduction in suitable area and that the reduction in distribution is masked for B. pauloensis. When each clade was separately analyzed, the ones in the edge of the species distribution are the most likely to decline. We found a large future refuge in eastern state of Sao Paulo and state of Rio de Janeiro for B. morio and for the clades of B. pauloensis. This refuge seems to show high levels of species richness and endemism for different taxa. Thus, by protecting this area we will be preserving not only the pattern of biodiversity but also the processes that generate and maintain them for many other species.

Supertypes are groups of human leukocyte antigen (HLA) alleles which bind overlapping sets of peptides due to sharing specific residues at the anchor positions—the B and F pockets—of the peptide-binding region (PBR). HLA alleles within the same supertype are expected to be functionally similar, while those from different supertypes are expected to be functionally distinct, presenting different sets of peptides. In this study, we applied the supertype classification to the HLA-A and HLA-B data of 55 worldwide populations in order to investigate the effect of natural selection on supertype rather than allelic variation at these loci. We compared the nucleotide diversity of the B and F pockets with that of the other PBR regions through a resampling procedure and compared the patterns of within-population heterozygosity (He) and between-population differentiation (GST) observed when using the supertype definition to those estimated when using randomized groups of alleles. At HLA-A, low levels of variation are observed at B and F pockets and randomized He and GST do not differ from the observed data. By contrast, HLA-B concentrates most of the differences between supertypes, the B pocket showing a particularly high level of variation. Moreover, at HLA-B, the reassignment of alleles into random groups does not reproduce the patterns of population differentiation observed with supertypes. We thus conclude that differently from HLA-A, for which supertype and allelic variation show similar patterns of nucleotide diversity within and between populations, HLA-B has likely evolved through specific adaptations of its B pocket to local pathogens. Electronic supplementary material The online version of this article (doi:10.1007/s00251-015-0875-9) contains supplementary material, which is available to authorized users.

Made available in DSpace on 2018-11-26T16:16:58Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-01-01. Added 1 bitstream(s) on 2019-10-09T18:25:39Z : No. of bitstreams: 1 S1415-47572015000300338.pdf: 1342078 bytes, checksum: 665099dc2e21b1b8750ea6ed59a6c4e4 (MD5) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) The complete mitochondrial genome of the brown brocket deer Mazama gouazoubira and a set of polymorphic microsatellite markers were identified by 454-pyrosequencing. De novo genome assembly recovered 98% of the mitochondrial genome with a mean coverage of 9-fold. The mitogenome consisted of 16,356 base pairs that included 13 protein-coding genes, two ribosomal subunit genes, 22 transfer RNAs and the control region, as found in other deer. The genetic divergence between the mitogenome described here and a previously published report was similar to 0.5%, with the control region and ND5 gene showing the highest intraspecific variation. Seven polymorphic loci were characterized using 15 unrelated individuals; there was moderate genetic variation across most loci (mean of 5.6 alleles/locus, mean expected heterozygosity = 0.70), with only one locus deviating significantly from Hardy-Weinberg equilibrium, probably because of null alleles. Marker independence was confirmed with tests for linkage disequilibrium. The genetic variation of the mitogenome and characterization of microsatellite markers will provide useful tools for assessing the phylogeography and population genetic patterns in M. gouazoubira, particularly in the context of habitat fragmentation in South America. Univ Brasilia, Dept Genet & Morfol, Inst Ciencias Biol, BR-70910900 Brasilia, DF, Brazil Univ Estadual Paulista, Dept Zootecnia, Nucleo Pesquisa & Conservacao Cervideos, Jaboticabal, SP, Brazil Univ Estadual Paulista, Dept Zootecnia, Nucleo Pesquisa & Conservacao Cervideos, Jaboticabal, SP, Brazil FAPESP: 2010/50748-3 CNPq: 305419/2014-5

In Brazil, species of the genus Liriomyza are widely distributed and have economic importance as they cause damage to at least 14 plant families, especially Solanaceae, Cucurbitaceae, Asteraceae, and Fabaceae. Studies suggest existence of a species complex within this genus, based on the presence of morphological similarities among the species Liriomyza trifolii (Burgess), L. sativae Blanchard and L. huidobrensis (Blanchard). The present study aimed to use DNA barcoding to establish new distribution records of L. sativae in distinct regions in Brazil, determine intra- and inter-population genetic diversity, and reconstruct the phylogeny of Liriomyza species using the DNA barcode sequences. Identity values were between 97% and 99%, confirming that all the examined Brazilian populations belonged to the species L. sativae. Phylogenetic analyses indicated the presence of a single clade of L. sativae, composed of seven populations. Intra-population analysis on individuals of these populations indicated low levels of nucleotide and haplotype diversity. The haplotype network indicated presence of only 14 haplotypes distributed among the Brazilian populations. The genetic similarities shared by the Brazilian populations of L. sativae suggest that these populations are closely related. Genetic patterns observed among populations of L. sativae might be associated with bottleneck events or founder effect during establishment of this leafminer in Brazil. RESUMO No Brasil, as espécies do gênero Liriomyza têm importância econômica e são amplamente distribuídos no país, causando danos a pelo menos 14 famílias de plantas, especialmente Solanaceae, Cucurbitaceae, Asteraceae e Fabaceae. Estudos sugerem a existência de um complexo de espécies dentro deste gênero com base na presença de semelhança morfológica nas espécies Liriomyza trifolii (Burgess), L. sativae (Blanchard) e L. huidobrensis (Blanchard). Este estudo teve como objetivo empregar o DNA Barcode em novas áreas para estabelecer novos registros de Liriomyza sativae no Brasil e também a determinação da diversidade genética intra e interpopulacional, e reconstruir a filogenia das espécies Liriomyza utilizando sequências do DNA barcode. Os valores de identidade foram entre 97% a 99%, confirmando que as todas as populações brasileiras avaliadas pertencem à espécie L. sativae. A análise filogenética indicou a presença de um único clado de L. sativae composto pelas sete populações. A análise intrapopulacional indicou níveis baixos de diversidade nucleotidica e haplótipica de indivíduos dessas populações. A rede de haplótipos indicou a presença de apenas 14 haplótipos distribuídos entre populações brasileiras. As semelhanças genéticas compartilhadas pelas populações brasileiras de L. sativae sugere que essas populações estão intimamente relacionados. Os padrões genéticos observados em populações de L. sativae pode estar associada a eventos gargalos ou efeito fundador durante o estabelecimento deste minadora no Brasil.

There is a scarcity of data of zinc transporter-8 autoantibody (ZnT8A) on mixed populations such as Brazilian. Therefore, we evaluated the relevance of ZnT8A for type 1 diabetes (T1D) diagnosis and the role of ZnT8 coding gene (SLC30A8) in T1D predisposition. Patients with T1D (n = 629; diabetes duration = 11 (6–16) years) and 651 controls were genotyped for SLC30A8 rs16889462 and rs2466295 variants (BeadXpress platform). ZnT8 triple antibody was measured by ELISA; glutamic acid decarboxylase (GAD65A) and protein tyrosine phosphatase (IA-2A) autoantibodies by radioimmunoassay. Results: Znt8A was detected in 68.7% of recent-onset T1D patients and 48.9% of the entire patient cohort, similar to GAD65A (68.3% and 47.2%) and IA-2A (64.8% and 42.4%) positivities respectively. ZnT8A was the only antibody in 8.4% of patients. Znt8A and IA2A frequencies and titers were independent of gender and ethnicity, whereas GAD65A titers were greater in females. The diabetes duration-dependent decline in ZnT8A frequency was similar to GAD65A and IA-2A. The SLC30A8 rs2466293 AG + GG genotypes were associated with T1D risk in non-European descents (56.2% × 42.9%; p = 0.018), and the GG genotype with higher ZnT8A titers in recent-onset T1D: 834.5 IU/mL (711.3–2190.0) × 281 IU/mL (10.7–726.8); p = 0.027. Conclusion ZnT8A detection increases T1D diagnosis rate even in mixed populations. SLC30A8 rs2466293 was associated with T1D predisposition in non-European descents.

A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states. To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals. From 46 OOM samples, which are frequently discarded during routine corrective surgeries on patients with orofacial clefts, we derived mesenchymal stem cells and correlated the individual genetic variants with gene expression from these cultured cells. Through this strategy, we detected significant cis-eQTLs (i.e., DNA variants affecting gene expression) and selected a few candidates to conduct an association study in a large Brazilian cohort (624 patients and 668 controls). This resulted in the discovery of a novel susceptibility locus for NSCL/P, rs1063588, the best eQTL for the MRPL53 gene, where evidence for association was mostly driven by the Native American ancestry component of our Brazilian sample. MRPL53 (2p13.1) encodes a 39S protein subunit of mitochondrial ribosomes and interacts with MYC, a transcription factor required for normal facial morphogenesis. Our study illustrates not only the importance of sampling admixed populations but also the relevance of measuring the functional effects of genetic variants over gene expression to dissect the complexity of disease phenotypes.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia and epilepsy. The disease is caused by a pentanucleotide ATTCT expansion in intron 9 of the ATXN10 gene on chromosome 22q13.3. SCA10 has shown a geographical distribution throughout America with a likely degree of Amerindian ancestry from different countries so far. Currently available data suggest that SCA10 mutation might have spread out early during the peopling of the Americas. However, the ancestral origin of SCA10 mutation remains under speculation. Samples of SCA10 patients from two Latin American countries were analysed, being 16 families from Brazil (29 patients) and 21 families from Peru (27 patients) as well as 49 healthy individuals from Indigenous Quechua population and 51 healthy Brazilian individuals. Four polymorphic markers spanning a region of 5.2 cM harbouring the ATTCT expansion were used to define the haplotypes, which were genotyped by different approaches. Our data have shown that 19-CGGC-14 shared haplotype was found in 47% of Brazilian and in 63% of Peruvian families. Frequencies from both groups are not statistically different from Quechua controls (57%), but they are statistically different from Brazilian controls (12%) (p

The theory of morphological integration and modularity predicts that if functional correlations among traits are relevant to mean population fitness, the genetic basis of development will be molded by stabilizing selection to match functional patterns. Yet, how much functional interactions actually shape the fitness landscape is still an open question. We used the anuran skull as a model of a complex phenotype for which we can separate developmental and functional modularity. We hypothesized that functional modularity associated to functional demands of the adult skull would overcome developmental modularity associated to bone origin at the larval phase because metamorphosis would erase the developmental signal. We tested this hypothesis in toad species of the Rhinella granulosa complex using species phenotypic correlation pattern (P‐matrices). Given that the toad species are distributed in very distinct habitats and the skull has important functions related to climatic conditions, we also hypothesized that differences in skull trait covariance pattern are associated to differences in climatic variables among species. Functional and hormonal‐regulated modules are more conspicuous than developmental modules only when size variation is retained on species P‐matrices. Without size variation, there is a clear modularity signal of developmental units, but most species have the functional model as the best supported by empirical data without allometric size variation. Closely related toad species have more similar climatic niches and P‐matrices than distantly related species, suggesting phylogenetic niche conservatism. We infer that the modularity signal due to embryonic origin of bones, which happens early in ontogeny, is blurred by the process of growth that occurs later in ontogeny. We suggest that the species differing in the preferred modularity model have different demands on the orbital functional unit and that species contrasting in climate are subjected to divergent patterns of natural selection associated to neurocranial allometry and T3 hormone regulation.

Panels composed of Single Nucleotide Polymorphisms (SNPs) in genes related to pigmentation, when associated with different phenotypes, may assist in predicting the physical appearance of an individual, being very useful in forensic caseworks. We evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. All the seven SNPs evaluated presented one allele associated with phenotypes from at least two pigmentation features and the alternative allele associated with the opposite phenotypes from the same trait. The genotypic associations followed the same pattern for all seven SNPs. Nine haplotypes were observed in our sample and eight were associated with at least two pigmentation traits. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population.

The effects of global glaciations on the distribution of organisms is an essential element of many diversification models. However, the empirical evidence supporting this idea is mixed, in particular with respect to explaining tropical forest evolution. In the present study, we evaluated the impacts of range shifts associated with Pleistocene global glacial cycles on the evolution of tropical forests. In particular, we tested the predictions: (1) that population genetic structure increases with fragmentation variation between the present and the Last Glacial Maximum (LGM) and also (2) with geographical range instability; and (3) that genetic diversity increases with range stability and (4) decreases with fragmentation variation between periods. To address our predictions, we studied population genetic structures and modelled present and past distributions of 15 Atlantic Forest (AF) endemic birds. Afterwards, we evaluated the relationship of population genetic parameters with metrics of species range shifts between the present and the LGM. We found that geographical ranges of AF birds changed in concert with Pleistocene glacial cycles but, unexpectedly, our findings suggest the novel idea that ranges during glacial maxima were slightly larger on average, as well as equally fragmented and displaced from the interglacial ranges. Our findings suggest that range shifts over the late Pleistocene impacted on the diversification of forest organisms, although they did not show that those range shifts had a strong effect. We found that a combination of fragmentation variation across time, small current range size, and range stability increased population genetic structure. However, neither fragmentation, nor range stability affected genetic diversity. Our study showed that evolutionary responses to range shifts across AF birds have a high variance, which could explain the mixed support given by single-species studies to the action of Pleistocene range shifts on population evolution. Fil: Cabanne, Gustavo Sebastián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; Argentina Fil: Calderón, Pablo Luciano Sebastian. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; Argentina Fil: Trujillo Arias, Natalia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; Argentina Fil: Flores, Pamela. Universidad Nacional de General Sarmiento; Argentina Fil: Pessoa, Rodrigo. Universidade Estadual de Montes Claros; Brasil Fil: d'Horta, Fernando M.. Instituto Nacional de Pesquisas da Amazônia; Brasil Fil: Miyaki, Cristina Y.. Universidade de Sao Paulo; Brasil

The geographical distribution of Amblyomma parvum Aragao 1908 in the New World is disjunct, with two main clusters separated from each other by the Amazon basin. The main objectives of this study were to further investigate the systematic relationships within A. parvum, to determine whether or not populations from different geographical areas might represent cryptic species, and to reconstruct the phylogeographical evolutionary history of the species. The genetic diversity of A. parvum collected throughout its distributional range was analyzed by using 6 molecular markers: 5 mitochondrial [the small and the large ribosomal subunits 12rDNA and 16SrDNA, the cytochrome oxidase I (COI) and II (COII) and the control region or d-loop (DL)], and one nuclear (ITS2, Inter transcribed spacer 2). Phylogenetic trees were inferred by using maximum parsimony and Bayesian analyses. In addition, node dating was attempted for the main lineages identified phylogenetically. Although mitochondrial and nuclear topologies were not totally congruent, they all identified at least two main supported clusters, a Central American lineage, and a Brazilian-Argentinian lineage. Clade support and divergence values strongly suggest that the two lineages correspond to different taxonomic entities. Node dating placed the split between the Central American and the Brazilian-Argentinian lineages at approximately 5.8-4.9 Mya, just after the progressive replacement of the dry areas that occupied the northern part of South America by the Amazon Basin in the early-mid Miocene. This event might be the cause of fragmentation and putative speciation within the ancestral relatively xerophilic A. parvum population.

In Uruguay, reforestations with Eucalyptus sp. is of fundamental importance to supply paper, pulp, and wood production. This study investigates genetic, productivity, stability, and adaptability parameters in the selection of Eucalypts grandis x Eucalyptus globulus full-sib hybrid clones. The study was conducted in a clonal test, repeated in two different soils types, in Rio Negro State, Uruguay. The population was characterized phenotypically for diameter at breast height (dbh) and genotyped for SNP markers (EuCHIP60K chip). Mean dbh was similar between sites and the genotype?environment interaction was simple. We found high genotype correlation in clone performance between environments (0.708), indicating the possibility of selecting the same clones for both study locations. Mean heritability between clones (0.724), coefficient of individual genetic variation (10.9 %), and relative variation (0.916), suggest the possibility of gains (estimated at 3.1 % for both sites together) by selecting clones with higher growth rates. A total of 15,196 SNPs were used to confirm parentage and test a genomic selection model for dbh. The predictive capacity was negative (-0.15) given the small population size (78 individuals). The most adaptable material among the tested study sites presented higher values for SNP heterozygosity. Thus, using molecular markers to identify clones responsive to environmental changes can act as a powerful tool in Eucalyptus breeding programs. The hybrid population showed greater adaptability than E. globulus for this region. Made available in DSpace on 2017-11-29T23:19:43Z (GMT). No. of bitstreams: 1 2016AnandaSGClonal.pdf: 2306761 bytes, checksum: 16c9ed6eec999b80eaffd677b4f1ce0e (MD5) Previous issue date: 2017-11-29

Made available in DSpace on 2016-07-07T12:35:40Z (GMT). No. of bitstreams: 0 Previous issue date: 2012. Added 1 bitstream(s) on 2016-07-07T12:44:40Z : No. of bitstreams: 1 ISSN1809-3647-2012-32-71-269-276.pdf: 466157 bytes, checksum: 194656bda7a037e4b4a36130646b88d2 (MD5) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) O presente estudo objetivou estimar parâmetros genéticos e a variabilidade entre o dentro de procedências, para caracteres silviculturais em um teste de procedências e progênies de Handroanthus vellosoi (Toledo) Mattos estabelecido na Estação Experimental de Luiz Antônio (SP). O teste foi instalado no delineamento experimental de blocos de famílias compactas, com duas procedências (alocadas nas parcelas), seis repetições e sub-parcelas lineares de cinco plantas, totalizando 35 progênies. O ensaio foi mensurado para os caracteres diâmetro à altura do peito, altura da planta, volume cilíndrico, forma do fuste e sobrevivência aos 24 anos de idade. Diferenças significativas entre procedências foram observadas apenas para o caráter forma do fuste. Pela análise de deviance foram detectadas diferenças significativas para o efeito de progênies para análise conjunta das procedências (população experimental), sugerindo que esta tem alta variação genética e indicando possibilidade de melhoramento genético pela seleção das melhores progênies. A estimativa de herdabilidade em nível individual e média de progênies variaram de baixa a moderada (26% para DAP, 32% para altura, 24% para volume cilíndrico, 27% para forma do fuste e 46% para sobrevivência), confirmando a possibilidade de melhoramento genético por seleção e que as procedências tem potencial para responder à pressão de seleção natural. The present study aimed at estimating genetic parameters and variability among and within provenances for silvicultural traits of Handroanthus vellosoi (Toledo) Mattos, in provenances and progenies test stands, located at the Luiz Antônio Experimental Station (São Paulo State, Brazil). The test was established in the compact family block design, with two provenances (allocated in the plots), siz replicates and sub-linear plots of five plants, totalizing 35 progenies. Diameter at breast (DBH), plant height, cylindrical volume, stem form and survival at 24 years of age were evaluated. Significant differences among the provenances were observed only to the trait stem form. The analysis of deviance showed significant differences among progenies for the joint analysis of the provenances (experimental population), suggesting that the population has high genetic variation and indicating the possibility of genetic improvement by selection of the best progrnies. Heritability estimates in individual and family level ranged from low to moderate (26% for DBH, 32% for plant height, 24% for cylindrical volume, 27% for form and 36% for survival), confirming the possibility of genetic improvement by selection and that the provenances have potential to respond to the pressure of natural selection. Universidade Estadual Paulista (UNESP), Faculdade de Engenharia de Ilha Solteira, Av. Brasil Centro, 56, CEP 15385-000, Ilha Solteira, SP, Brasil Instituto Florestal, Rua do Horto, 931, CEP 02377-000, São Paulo, SP, Brasil. Universidade Estadual Paulista (UNESP), Faculdade de Engenharia de Ilha Solteira, Av. Brasil Centro, 56, CEP 15385-000, Ilha Solteira, SP, Brasil CNPq: 402026/2008-0

Genetic variability of a population of Aedes aegypti from Paraná, Brazil, using the mitochondrial ND4 gene. To analyze the genetic variability of populations of Aedes aegypti, 156 samples were collected from 10 municipalities in the state of Paraná, Brazil. A 311 base pairs (bp) region of the NADH dehydrogenase subunit 4 (ND4) mitochondrial gene was examined. An analysis of this fragment identified eight distinct haplotypes. The mean genetic diversity was high (h = 0.702; p = 0.01556). AMOVA analysis indicated that most of the variation (67%) occurred within populations and the F ST value (0.32996) was highly significant. F ST values were significant in most comparisons among cities. The isolation by distance was not significant (r = -0.1216 and p = 0, 7550), indicating that genetic distance is not related to geographic distance. Neighbor-joining analysis showed two genetically distinct groups within Paraná. The DNA polymorphism and AMOVA data indicate a decreased gene flow in populations from Paraná, which can result in increased vectorial competence. Variabilidade genética de uma população de Aedes aegypti do Paraná, Brasil, usando o gene mitocondrial ND4. Para analisar a variabilidade genética de populações de Aedes aegypti, 156 amostras foram coletadas em dez cidades do estado do Paraná, Brasil. Foi examinada a distribuição dos 311 pares de base do gene que codifica a subunidade 4 da enzima NADH desidrogenase. Pela amplificação e o sequenciamento deste fragmento foram identificados 8 haplótipos distintos. Os valores de diversidade genética foram altos (h = 0.702; p = 0.01556). A análise de AMOVA indicou que a maior variação ocorreu dentro das populações com um valor de FST de 0.32996 altamente significativo. Valores de FST foram significativos na maior das comparações entre as cidades. O isolamento por distância não foi significativo (r = -0.1216 e p = 0.755), indicando que a distância genética não está relacionada a distância geográfica. A análise de Neighbor-joining mostrou dois grupos genéticos distintos dentro do estado do Paraná, grupo I e grupo II. O polimorfismo de DNA e os dados de AMOVA indicam decréscimo de fluxo gênico no estado do Paraná, o que pode resultar em aumento da competência vetorial da população.

Some fossil analyses have found osteological similarities between modern humans and Neanderthals that suggest that there was interbreeding between the two species. If, however, we accept the recent African replacement hypothesis, under which modern humans replaced Neanderthals in Europe without interbreeding of the two groups, then these traits could belong to a common ancestor of the two species or maybe could represent an example of convergent evolution. Over a decade of mitochondrial DNA studies, it has been established that, for this molecule, modern humans and Neanderthals are clearly separate genetic lineages, without signs of interbreeding. The recent finding that modern humans and Neanderthals share significant portions of their nuclear DNA, however, raises new questions about the Out-of-Africa hypothesis and about what makes us modern humans.

The shrimp industry has grown significantly over the past 10 years in Brazil, especially the farmed production of the exotic Pacific white shrimp, Litopenaeus vannamei. In 2004, this industry was marked by a productivity crisis, which stirred interest towards genetic improvement of shrimp stocks. Shrimp breeders importation was banned in Brazil by a govern Normative Instruction in 1997, as a sanitary precaution. Since then, broodstock replacement in hatcheries has been based on domestic stocks, raising concerns on the decline of genetic diversity and if the existing diversity would allow effective genetic improvement programs. In the present research, genetic parameters such as number of alleles, effective allele number, expected and observed heterozygosities, inbreeding coefficient, genetic differentiation index and deviation from Hardy-Weinberg equilibrium have estimated of two important commercial hatcheries in Northeast Brazil, genotyping 5 microsatellite loci. Effective allele number (3 to 10.5) and average observed and expected heterozygosities (0.480 and 0.680) were consistent with those reported for cultured and wild Penaeid populations. However, F IS positive values (0.381 for hatchery A and 0.249 for hatchery B) reflected a significant heterozygous deficiency within hatcheries (P

São poucos os softwares disponíveis para a análise de parentesco e, até a presente data, nenhum pode realizar a análise de parentesco para organismos poliplóides, com número par (2k) de cromossomos. Implementou-se junto ao programa R uma rotina capaz de executar a análise de parentesco para qualquer nível 2k de ploidia, número de indivíduos (ou populações) e número de gerações envolvidas na árvore genealógica. A função principal, calc.rxy() calcula o coeficiente de endogamia (F X) de cada indivíduo; coeficientes de parentesco (rXY) entre dois indivíduos quaisquer; e coeficiente de parentesco médio, variância, mínimo e máximo, para cada indivíduo. Ela pode mostrar a matriz completa de parentesco ou uma submatriz pré-definida de indivíduos selecionados. Adicionalmente, foram incluidas funções que servem para identificar erros de redundância dos dados originais (checar.nomes()) e para identificar os pares de indivíduos com rXY superior a certo limite especificado pelo pesquisador (corte.rxy()). Essas funções podem ser usadas na análise de pedigrees com um número elevado de indivíduos e poderão ser utilizadas pela comunidade científica livremente, sem restrições à plataforma operacional utilizada. Destaca-se a vantagem em se poder trabalhar com qualquer nível 2k de ploidia, mesmo quando existe a possibilidade de certo indivíduo ser oriundo de autofecundação, aspecto comum em várias espécies vegetais. There are few softwares available to analyze relatedness among individuals and, to date, none can perform this analysis for polyploid organisms, with even number (2k) of chromosomes. This work implements within package able to execute an analysis of relatedness for any 2k-ploidy level, number of individuals (or populations) and number of generations in the pedigree. The main function, calc.rxy(), calculates the inbreeding coefficient (F X) of each individual; coancestry coefficients (rXY) between any two individuals; and average, variance, minimum and maximum of coancestry coefficient for each selected individual. A complete matrix of coancestry or any sub-matrix for selected individuals can be output. In addition, functions are included to identify reduntant information in the original data set (checar.nomes()) and to identify pairs of individuals with rXY higher than an upper bound specified by the researcher (corte.rxy()). These functions can be used to analyze a pedigree with a large number of individuals and can be implemented by the scientific community freely, regardless of the platform in use. The advantage of allowing to work with any 2k-ploidy level is highlighted, even when some individual is originated from selfing, a common scenario for many plant species.

Two hundred and three individuals classified as white were tested for 11 single nucleotide polymorphisms plus two insertion/deletions in their Y-chromosomes. A subset of these individuals (n = 172) was also screened for sequences in the first hypervariable segment of their mitochondrial DNA (mtDNA). In addition, complementary studies were done for 11 of the 13 markers indicated above in 54 of 107 black subjects previously investigated in this southern Brazilian population. The prevalence of Y-chromosome haplogroups among whites was similar to that found in the Azores (Portugal) or Spain, but not to that of other European countries. About half of the European or African mtDNA haplogroups of these individuals were related to their places of origin, but not their Amerindian counterparts. Persons classified in these two categories of skin color and related morphological traits showed distinct genomic ancestries through the country. These findings emphasize the need to consider in Brazil, despite some general trends, a notable heterogeneity in the pattern of admixture dynamics within and between populations/groups.

Brycon hilarii is a migratory fish widely distributed throughout the Paraguay River Basin. It is appreciated in sport fishing and for its superior meat quality. It is also the main species for tourist attraction in the Bonito region (State of Mato Grosso do Sul, Brazil). Considering the lack of information on the genetic structure of the fish of this species, the aim of the present study was to detect the genetic variability of Brycon hilarii through RAPD markers. A total of eighty specimens collected in different seasons at four sites of the Miranda River sub-basin (Paraguay River Basin, Brazil) were used for analysis. The results of genetic similarity, Shannon diversity, and AMOVA revealed differences between the sampling sites. Through AMOVA, differences between populations were more evident among the animals collected during the non-reproductive season, corresponding to a time of less movement of these fish. A population structuring model in which B. hilarii appears organized into genetically differentiated reproductive units that coexist and co-migrate through the studied system was suggested, contrasting the currently accepted idea that freshwater migratory fish form large panmictic populations in a determined hydrographic system. Despite the lack of a complete picture regarding the distribution of B. hilarii in the studied region, this initial idea on its population genetic structure could be an important contribution to providing aid for management and conservation programs of these fish. Brycon hilarii é uma espécie de peixe migrador, distribuída por toda a Bacia do Paraguai, bastante apreciada tanto pela qualidade da carne quanto para a pesca esportiva, além de ser a principal espécie de interesse turístico da região de Bonito (MS, Brasil). Considerando a ausência de informações sobre a estrutura genética dos peixes desta espécie, o presente trabalho visou detectar a variabilidade genética de Brycon hilarii através de marcadores RAPD. Foi estudado um total de 80 exemplares amostrados em diferentes períodos do ano, em 4 localidades da sub-bacia do Rio Miranda (Bacia do Rio Paraguai, Brasil). Os resultados de similaridade genética, de diversidade de Shanon e AMOVA evidenciaram diferenças entre as localidades amostradas. Através da AMOVA, a diferenciação populacional foi mais evidente entre os peixes coletados no período não-reprodutivo, que representa a época de menor deslocamento desses peixes. Desta forma, ao contrário da idéia até então aceita de que os peixes migradores de água doce formam grandes populações panmíticas em um dado sistema hidrográfico, sugere-se a ocorrência de um modelo de sub-estruturação populacional onde os indivíduos de B. hilarii se organizam em unidades reprodutivas geneticamente diferenciadas e mantêm sua integridade co-existindo e co-migrando através do sistema estudado. Apesar da falta de um cenário completo a respeito da distribuição de B. hilarii na região estudada, esta idéia inicial acerca de sua estrutura genético-populacional pode ser uma contribuição muito importante principalmente por fornecer subsídios para planos de manejo e conservação desses peixes.

Sequence capture of ultraconserved elements (UCEs) associated with massively parallel sequencing has become a common source of nuclear data for studies of animal systematics and phylogeography. However, mitochondrial and microsatellite variation are still commonly used in various kinds of molecular studies, and probably will complement genomic data in years to come. Here we show that besides providing abundant genomic data, UCE sequencing is an excellent source of both sequences for microsatellite loci design and complete mitochondrial genomes with high sequencing depth. Identification of dozens of microsatellite loci and assembly of complete mitogenomes is exemplified here using three species of Poospiza warbling finches from southern and southeastern Brazil. This strategy opens exciting opportunities to simultaneously analyze genome-wide nuclear datasets and traditionally used mtDNA and microsatellite markers in non-model amniotes at no additional cost.

Methods to impute HLA alleles based on dense single nucleotide polymorphism (SNP) data provide a valuable resource to association studies and evolutionary investigation of the MHC region. The availability of appropriate training sets is critical to the accuracy of HLA imputation, and the inclusion of samples with various ancestries is an important pre-requisite in studies of admixed populations. We assess the accuracy of HLA imputation using 1000 Genomes Project data as a training set, applying it to a highly admixed Brazilian population, the Quilombos from the state of São Paulo. To assess accuracy, we compared imputed and experimentally determined genotypes for 146 samples at 4 HLA classical loci. We found imputation accuracies of 82.9%, 81.8%, 94.8% and 86.6% for HLA-A, -B, -C and -DRB1 respectively (two-field resolution). Accuracies were improved when we included a subset of Quilombo individuals in the training set. We conclude that the 1000 Genomes data is a valuable resource for construction of training sets due to the diversity of ancestries and the potential for a large overlap of SNPs with the target population. We also show that tailoring training sets to features of the target population substantially enhances imputation accuracy.

NESTE TRABALHO nós usamos o instrumental da genética molecular e da genética de populações para estimar quantitativamente a contribuição africana para a formação do povo brasileiro. Examinamos dois compartimentos genômicos: o DNA mitocondrial, de herança matrilínea, e o DNA nuclear, de herança bi-parental. Os estudos mitocondriais revelaram que aproximadamente 30% dos brasileiros autoclassificados como brancos e 80% dos negros apresentam linhagens maternas características da áfrica subsaariana. A partir destes dados, estimamos que pelo menos 89 milhões de brasileiros são afro-descendentes, um número bem superior aos 76 milhões de pessoas que se declararam negros (pretos e pardos) no censo de 2000 do IBGE. As análises de polimorfismos nucleares com marcadores "informativos de ancestralidade" mostraram resultados mais expressivos ainda. Usando estudos de brasileiros autoclassificados como brancos de várias regiões do Brasil, estimamos que aproximadamente 146 milhões de brasileiros (86% da população) apresentam mais de 10% de contribuição africana em seu genoma. Estes números devem ser levados em conta nas discussões sobre ações afirmativas no Brasil, mas em um sentido descritivo e não prescritivo.IN THIS ARTICLE we used tools of molecular and population genetics to estimate quantitatively the African contribution for the formation of the Brazilian population. We examined two genomic compartments: mitochondrial DNA (mtDNA), maternally inherited, and nuclear DNA, inherited from both parents. The studies using mtDNA showed that about 30% of Brazilians self-classified as White and 80% of Brazilian Negroes carry maternal lineages typical of Sub-Saharan Africa. Using these data we could estimate that at least 89 million Brazilians are afrodescendants, a number considerably larger than the 76 million individuals self-classified as Negro in the 2000 census. The analyses on nuclear polymorphisms employed "ancestry informative" markers and showed even more striking results. On the basis of studies in individuals self-classified as White from several Brazilian regions, we estimated that approximately 146 million Brazilians (86% of the population) had more than 10% African contribution to their genome. These numbers should be taken into account in discussing affirmative action programs in Brazil, but in a descriptive rather than a prescriptive sense.

Four biallelic and six multiallelic Y-chromosome polymorphisms were investigated in 59 Gran Canarian, 60 North African Berber and 46 Spanish subjects. These new data were merged with equivalent literature information to obtain the parental Y-chrosomomal contribution in Gran Canarians, Colombians, and Venezuelans. The results were then compared, for Gran Canarians and Colombians, to those derived from autosomal and mtDNA. In both groups, the Spanish Y-chromosome contribution was much more marked than that estimated using mtDNA. This analysis showed a usual trend in the Spanish Colonial history, characterized by a demographic collapse of the aboriginal population, but with considerable introgression of genes through native women. In accordance to D. Ribeiro's typology for peoples subjected to Colonialism, the Y-chromosomes of these admixed populations are classified as transplanted, their mtDNA as witness, and their autosome sets as new.

Body color polymorphism of urban populations of cosmopolite fly Drosophila kikkawai Burla, 1954 was investigated in relation to its possible association with environmental temperature. Samples of D. kikkawai were collected in spring, summer, autumn and winter between 1987 to 1988, in zones with different levels of urbanization in the southern Brazilian city of Porto Alegre, Rio Grande do Sul. A clear association was observed between darker flies and both seasons with low temperatures and areas of low urbanization (where temperature is generally lower than in urbanized areas). Results of preliminary laboratory experiments involving six generations of flies grown in chambers at temperatures of 17º and 25ºC confirmed this tendency to a relationship between body color and temperature, with allele frequency of the main gene involved in body pigmentation changing over time.

Made available in DSpace on 2015-11-03T15:29:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2014-11-01. Added 1 bitstream(s) on 2015-11-04T10:16:21Z : No. of bitstreams: 1 S0100-67622014000600015.pdf: 216197 bytes, checksum: 0232206617f0da69c276c2d32e0b8ce0 (MD5) Um dos grandes desafios para o sistema agropecuário é estabelecer a produção agrícola aliada à conservação dos recursos genéticos, principalmente visando à proteção de Áreas de Preservação Permanente. Nesse contexto, mulungu (Erythrina velutina Willd), entre outras espécies nativas, vem sofrendo com as pressões antrópicas nos mais diversos ecossistemas, o que causa reduções em sua base genética. Este trabalho foi realizado com o objetivo de utilizar parâmetros ecológicos e genéticos populacionais como indicadores de sustentabilidade em duas populações naturais de mulungu, situadas em áreas de floresta ciliar, no Estado de Sergipe, bem como avaliar a tendência à sustentabilidade delas, visando à conservação genética da espécie. Utilizou-se a matriz de Pressão-Estado-Impacto/Efeito-Resposta (PEI/ER) com a seleção de 13 indicadores, a partir do uso de marcadores moleculares RAPD e bioquímicos (enzimas) nas populações, de modo a apresentá-los como informações relevantes para medir o progresso quanto à sustentabilidade e conservação de mulungu. As populações estudadas apresentaram baixa tendência à sustentabilidade, necessitando de estratégias para mudança desse status. One of the greatest challenges for the agricultural system is to establish agricultural production combined with the conservation of genetic resources, mainly aiming to protect the Permanent Preservation Areas. In this context, mulungu ( Erythrina velutina Willd), among other native species, has been suffering with anthropogenic pressures in various ecosystems, causing reductions in its genetic basis. This work aims to identify ecological and genetic population parameters as indicators of sustainability in two natural populations of mulungu, located in riparian forest, in the state of Sergipe, and to assess the tendency to their sustainability, aiming genetic conservation of the species. The matrix of Pressure-State-Impact/Effect-Response (PEI/ER) was used with the selection of 13 indicators, from the use of RAPDmolecular markers and biochemical (enzymes) markers in populations, in order to present them as relevant information to measure progress as for sustainability and conservation ofmulungu. The studied populations presented low tendency to sustainability, requiring strategies to change this status. Univ Fed Sergipe, Programa Posgrad Agroecossistemas, Sao Cristovao, Brazil Univ Fed Sergipe, Dept Engn Agronom, Ctr Ciencias Agr Aplicadas, Sao Cristovao, Brazil UNESP, Univ Estadual Paulista Julio Mesquita Filho, Programa Posgrad Ciencia Florestal, Botucatu, SP, Brazil UNESP, Univ Estadual Paulista Julio Mesquita Filho, Programa Posgrad Ciencia Florestal, Botucatu, SP, Brazil

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. Electronic supplementary material The online version of this article (doi:10.1186/s12862-014-0174-3) contains supplementary material, which is available to authorized users.

The Rufous Gnateater, Conopophaga lineata, is a small insectivorous understory bird which is endemic to and widely distributed in the tropical and subtropical Atlantic forest of South America. Its distribution makes it ideally suited for testing two major hypotheses for the origin of biodiversity, namely, the riverine barrier and the forest refuge hypotheses. In this study, we sequenced mitochondrial (control region) and nuclear markers (intron 5 of the β-fibrinogen gene) for individuals distributed in the southern Atlantic forest and obtained a strong genetic structure with one clear discontinuity in northern Brazilian state of São Paulo. We consistently detected signals of demographic expansion for both markers, with estimates indicating that expansion started in the Late Pleistocene (250,000 years ago), suggesting that the forest refuge hypothesis potentially explains Rufous Gnateater’s diversification. We also found evidence of gene flow between populations from each side of this discontinuity, with a possible secondary contact zone occurring in the states of Minas Gerais, São Paulo, and Rio de Janeiro. Fil: Dantas, Gisele Pires Mendonça. Universidade Federal do Minas Gerais; Brasil. Pontificia Universidad Catolica do Minas Gerais; Brasil Fil: Sari, Eloisa Helena Reis. Universidade Federal do Minas Gerais; Brasil Fil: Cabanne, Gustavo Sebastián. Universidade de Sao Paulo; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales "Bernardino Rivadavia"; Argentina Fil: Pessoa, Rodrigo Oliveira. Universidade de Sao Paulo; Brasil. Universidade Estadual de Montes Claros ; Brasil Fil: Marini, Miguel Angelo. Universidade do Brasilia; Brasil Fil: Miyaki, Cristina Yumi. Universidade de Sao Paulo; Brasil Fil: Santos, Fabricio R.. Universidade Federal do Minas Gerais; Brasil

Marcelo Gehara [et al.], Species distributed across vast continental areas and across major biomes provide unique model systems for studies of biotic diversification, yet also constitute daunting financial, logistic and political challenges for data collection across such regions. The tree frog Dendropsophus minutus (Anura: Hylidae) is a nominal species, continentally distributed in South America, that may represent a complex of multiple species, each with a more limited distribution. To understand the spatial pattern of molecular diversity throughout the range of this species complex, we obtained DNA sequence data from two mitochondrial genes, cytochrome oxidase I (COI) and the 16S rhibosomal gene (16S) for 407 samples of D. minutus and closely related species distributed across eleven countries, effectively comprising the entire range of the group. We performed phylogenetic and spatially explicit phylogeographic analyses to assess the genetic structure of lineages and inferancestral areas. We found 43 statistically supported, deep mitochondrial lineages, several of which may represent currently unrecognized distinct species. One major clade, containing 25 divergent lineages, includes samples from the type locality of D. minutus. We defined that clade as the D. minutus complex. The remaining lineages together with the D. minutus complex constitute the D. minutus species group. Historical analyses support an Amazonian origin for the D. minutus species group with a subsequent dispersal to eastern Brazil where the D. minutus complex originated. According to our dataset, a total of eight mtDNA lineages have ranges .100,000 km2. One of them occupies an area of almost one million km2 encompassing multiple biomes. Our results, at a spatial scale and resolution unprecedented for a Neotropical vertebrate, confirm that widespread amphibian species occur in lowland South America, yet at the same time a large proportion of cryptic diversity still remains to be discovered.

A general introduction to the origins and history of Latin American populations is followed by a systematic review of the data from molecular autosomal assessments of the ethnic/continental (European, African, Amerindian) ancestries for 24 Latin American countries or territories. The data surveyed are of varying quality but provide a general picture of the present constitution of these populations. A brief discussion about the applications of these results (admixture mapping) is also provided. Latin American populations can be viewed as natural experiments for the investigation of unique anthropological and epidemiological issues.

Marcadores isoenzimáticos ou moleculares têm sido empregados em estudos da estrutura genética e do sistema reprodutivo de populações naturais. Parâmetros genéticos populacionais de interesse são estimados, porém, há pouca informação sobre o erro associado a essas estimativas em função dos diferentes níveis de amostragem. Neste trabalho, o método de reamostragem bootstrap foi aplicado sobre locos, indivíduos, populações e indivíduos e populações concomitantemente, em dados de populações naturais. Para os parâmetros índice de fixação total (F ), índice de fixação intrapopulacional ( f ), diversidade entre populações (teta) e taxa aparente de cruzamento (t a) foram obtidos, em função das fontes de reamostragem, os erros associados às estimativas desses parâmetros, a distribuição de empírica dessas estimativas e intervalos de confiança para tais parâmetros. Geralmente, os menores erros estão associados a , e verificou-se que apenas as distribuições empíricas de e tendem à normalidade quando indivíduos estão envolvidos na reamostragem. Foram feitas reamostragens com tamanho variável de amostras bootstrap, visando obter o número necessário de locos, indivíduos e populações para atingir um dado nível de precisão na estimação de F, f e teta. Em geral, os tamanhos amostrais utilizados nas pesquisas com populações naturais foram suficientes apenas para estimar teta, com a precisão estabelecida. A fonte de variação de locos foi responsável pelos maiores erros associados a e , sendo recomendável aumentar o número de locos em pesquisas dessa natureza. A amostragem de populações também deverá merecer atenção no planejamento de pesquisas futuras. Genetic structure and reproductive system of natural populations have often been studied using molecular markers and isozymes. Specific genetic parameters are therefore being estimated for this purpose. There is little information about errors associated with these estimates due to different possible sampling levels. Some real datasets were used in this study and bootstrapping was performed over loci, individuals, populations and both individuals and populations simultaneously. These different resampling strategies produced associated errors of the estimates and their empiric distributions and confidence intervals for the following parameters: total fixation index (F ), fixation index within populations (f ), diversity between populations (theta ) and apparent outcrossing rate (t a). Generally, smaller errors were associated with . The only empirical distribution of estimates approaching normality were for and when individuals were envolved in the resampling process. Bootstrap samples of variable sizes were used to obtain the number of loci, individuals and populations necessary to achieve a given precision of F, f and theta. Generally, the magnitude of errors of the estimates in most datasets indicated that sample sizes currently used in research involving natural populations were suitable only for the estimation of theta. The largest errors of and , were associated to sampling errors due to loci. Therefore, future studies should use larger numbers of loci. Sampling errors due to population was also important and should not be neglected.

The destruction of Brazilian natural habitats has reduced bee populations and negative impacts of native flora pollination have been noticed. This work describes the isolation and characterization of microsatellite loci and evaluates them as molecular markers to study genetic variability of the stingless bee Plebeia remota. A microsatellite enriched genomic library was constructed and 15 primer pairs were designed for this species. The survey was conducted by analyzing 21 unrelated individuals. Genetic diversity indexes were calculated. The mean allelic richness was 6.3, the observed heterozygosity was 0.568, and the percentage of polymorphic loci was 93.33%. Also the primers were tested in cross-species amplification and showed promising results for P. droryana, P. emerina, P. lucii, P. meridionalis, P. pugnax, and P. saiqui. The microsatellite loci described here will be useful to evaluate genetic variability of stingless bees, and certainly will improve our knowledge about population dynamics especially in threatened environments.

We analyzed DNA polymorphisms in the b-globin gene cluster of 30 sickle cell anemia patients from Belém, the capital city of the State of Pará, in order to investigate the origin of the bS mutation. Sixty-seven percent of the bS chromosomes were Bantu type, 30% were Benin type, and 3% were Senegal type. The origin of the bS mutation in this population, estimated on the basis of bS-linked haplotypes, contradicts the historical records of direct slave trade from Africa to the northern region of Brazil. Historical records indicate a lower percentage of people from Benin. These discrepancies are probably due to domestic slave trade and later internal migrations, mainly from northeastern to northern regions. Haplotype distribution in Belém did not differ significantly from that observed in other Brazilian regions, although historical records indicate that most slaves from Atlantic West Africa, where the Senegal haplotype is prevalent, were destined for the northern region, whereas the northeast (Bahia, Pernambuco and Maranhão) was heavily supplied with slaves from Central West Africa, where the Benin haplotype predominates.Com o objetivo de investigar a origem da mutação bS na população da região norte do Brasil, foram analisados polimorfismos de DNA no complexo de genes b da hemoglobina em 30 pacientes com anemia falciforme na população de Belém, a capital do Estado do Pará. Sessenta e sete por cento dos cromossomos bS analisados apresentaram o haplótipo Bantu, 30% o haplótipo Benin e 3% o haplótipo Senegal. A origem da mutação bS na população de Belém, estimada de acordo com a distribuição de haplótipos, não está de acordo com a esperada com base em dados históricos sobre o tráfico de escravos para a região norte, os quais indicam uma reduzida contribuição de escravos da região do Benin. Essas diferenças podem ser atribuídas ao tráfico interno de escravos, bem como ao posterior fluxo de populações imigrantes, particularmente de nordestinos. A distribuição de haplótipos em Belém não difere significativamente da observada em outras regiões brasileiras, muito embora os dados históricos sugiram que a maioria dos escravos procedentes da região do Atlântico-Oeste africano, onde predomina o haplótipo Senegal, foi trazida para o norte do Brasil, enquanto que o nordeste (Bahia, Pernambuco e Maranhão) recebeu o maior contingente de escravos oriundos da região centro-oeste africana, onde o haplótipo Benin é o mais comum. Nós sugerimos que as diferenças regionais quanto à procedência dos escravos africanos também foram modificadas pelo tráfico de escravos estabelecido entre as diferentes regiões brasileiras e posteriormente pelos movimentos migratórios.

In the present study, a microsatellite-enriched genomic library was constructed and primers for 14 microsatellite loci were designed for Xylocopafrontalis. Twenty unrelated individuals were screened. All loci were polymorphic and the number of alleles per locus ranged from 6 to 17 (x = 10.43). Observed (Ho) and expected (He) heterozygosities ranged from 0.350 to 0.950 and 0.674 to 0.898, respectively. All loci were in Hardy–Weinberg equilibrium, except one. The microsatellite loci described in this study will contribute towards general biology studies of X. frontalis, intranidal genetic relationships and nest management for the pollination of passion fruit.

The Brazilian population represents an admixture of native Amerindians, Portuguese settlers and Africans who were brought as slaves during the colonization period that began in the 16th century and was followed by waves of immigrations of Europeans and Asians in the 20th century. The contribution of these different ethnic groups to the constitution of Brazilian populations from different geographic regions is variable and, in addition to environmental factors, might act by determining different allele profiles among Brazilian populations from different regions. We studied polymorphic sites at the 3' untranslated region of the HLA-G gene in individuals from a Northeastern Brazilian region and compared them to our previously published data about a Southeastern Brazilian region, located at a distance of 2589 km. Our results showed that most polymorphic sites present a similar distribution in both populations, except for the lower frequency of the +3003C allele in the Northeastern population compared to the Southeastern population. Although differences in genotypic distribution were only significant for the +3003 locus (P = 0.0201), the diversity of haplotypes was distinct for each population. These results are important for case-control studies on the association of human leucocyte antigen-G polymorphism with disease and also in terms of the genetic structure of two distinct Brazilian populations.

Epidendrum puniceoluteum is an endemic orchid of Atlantic Rainforest, restricted to few populations only due to the destruction and fragmentation of its native habitat. Here, we report on the development of 10 microsatellite markers isolated from this orchid species. Genetic variability was characterized in two distant populations from Brazil coast. The number of alleles observed for each locus ranged from two to 12 and with an average of 6.4 alleles per locus. These microsatellites should be valuable tools for studying both fine-scale genetic structure of scattered E. puniceoluteum population and patterns will be useful genetic markers for other closely related taxa.

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Institutos do Milenio and Programa de Apoio a Nucleos de Excelencia Programs Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) A total of 172 persons from nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9) exon 3 (138 base pairs) as well as its 5' and 3' flanking intronic segments (232 bp and 220 bp, respectively) and integrated with the information available for the same genetic region from individuals of different geographical origins. Nine mutations were scored in exon 3 and six in its flanking regions; four of them are new South American tribe-specific singletons. Exon3 nucleotide diversity is several orders of magnitude higher than its intronic regions. Additionally, a set of variants in the PAX9 and 101 other genes related with dentition can define at least some dental morphological differences between Sub-Saharan Africans and non-Africans, probably associated with adaptations after the modern human exodus from Africa. Exon 3 of PAX9 could be a good molecular example of how evolvability works. Univ Fed Rio Grande do Sul, Inst Biociencias, Dept Genet, BR-90049 Porto Alegre, RS, Brazil Univ São Paulo, Inst Biociencias, Dept Genet & Biol Evolut, São Paulo, Brazil Universidade Federal de São Paulo, Dept Bioquim, São Paulo, Brazil CNRS, Lab Anthropobiol, FRE2960, Toulouse, France Fac Med, CS80011, Marseille, France Univ Paris Diderot, Hop Robert Debre, Insern, UMR 763, Paris, France Univ São Paulo, Fac Med, Dept Clin Med, São Paulo, Brazil Univ São Paulo, Fac Med Ribeirao Preto, Dept Genet, São Paulo, Brazil Universidade Federal de São Paulo, Dept Bioquim, São Paulo, Brazil Web of Science