Reduced genetic diversity and the success of the invasive peacock bass (Cichliformes: Cichlidae) / Diversidade genética reduzida e o sucesso da espécie invasora tucunaré (Cichliformes: Cichlidae)

Abstract Several species of Cichla successfully colonized lakes and reservoirs of Brazil, since the 1960's, causing serious damage to local wildlife. In this study, 135 peacock bass were collected in a reservoir complex in order to identify if they represented a single dominant species or multiple ones, as several Cichla species have been reported in the basin. Specimens were identified by color pattern, morphometric and meristic data, and using mitochondrial markers COI, 16S rDNA and Control Region (CR). Overlapping morphological data and similar coloration patterns prevented their identification using the taxonomic keys to species identification available in the literature. However, Bayesian and maximum likelihood from sequencing data demonstrated the occurrence of a single species, Cichla kelberi. A single haplotype was observed for the 16S and CR, while three were detected for COI, with a dominant haplotype present in 98.5% of the samples. The extreme low diversity of the transplanted C. kelberi evidenced a limited number of founding maternal lineages. The success of this colonization seems to rely mainly on abiotic factors, such as increased water transparency of lentic environments that favor visual predators that along with the absence of predators, have made C. kelberi a successful invader of these reservoirs.

Resumo Muitas espécies de Cichla colonizaram com sucesso lagos e reservatórios do Brasil desde os anos 1960, causando graves prejuízos à vida selvagem nesses locais. Neste estudo, 135 tucunarés foram coletados em um complexo de reservatórios a fim de identificar se representavam uma espécie dominante ou múltiplas espécies, uma vez que diversas espécies de Cichla foram registradas na bacia. Os espécimes foram identificados com base na coloração, dados morfométricos e merísticos, e por marcadores mitocondriais COI, 16S rDNA e Região Controle (RC). A sobreposição dos dados morfométricos e o padrão similar de coloração impediram a identificação utilizando as chaves de identificação disponíveis na literatura. Entretanto, as análises bayesiana e de máxima verossimilhança de dados moleculares demonstraram a ocorrência de uma única espécie, Cichla kelberi. Um único haplótipo foi observado para o 16S e RC, enquanto três foram detectados para o COI, com um haplótipo dominante presente em 98,5% das amostras. A baixa diversidade nos exemplares introduzidos de C. kelberi evidenciou um número limitado de linhagens maternas fundadoras. O sucesso da invasão parece depender de fatores abióticos, como a maior transparência da água de ambientes lênticos que favorece predadores visuais que, atrelado à ausência de predadores, fez do C. kelberi um invasor bem-sucedido nesses reservatórios.

Genetic variations and phylogenetic relationship of genus Uromastyx from Punjab Pakistan / Variações genéticas e relação filgenética do gênero Uromastyx de Punjab, Paquistão

Abstract During the present study, specimens were collected from selected sites of Cholistan desert and Kalabagh Game Reserve, Punjab province, Pakistan. Each captured specimen was tagged with voucher number and morphometric measurements were taken. The average snout to vent length was 172.559±1.40 mm and average weight was 92.1±1.30 g. The DNA of Uromastyx hardwickii was amplified and sequenced using 16S rRNA primer set. The obtained DNA sequence has shown reliable and clear species identification. After trimming ambiguous bases, the obtained 16S rRNA fragment was 520 bp while 16S rRNA fragments aligned with closely matched sequence from NCBI comprised of 510 bp. Closely matched sequences of genus Uromastyx were retrieved from NCBI in blast searches. Neighbour-joining tree of genus Uromastyx was constructed based on p-distance using MEGA X. The mean intraspecific variation was 0.095±0.01 while intraspecific variation was ranging from 0-1%. Similarly, interspecific variation of Uromastyx hardwikii with Saara asmussi, Uromastyx alfredschmidti, Uromastyx geyri, Uromastyx thomasi, Uromastyx alfredschmidti was 0-12%, 0-19%, 0-19%, 0-20%, 12-19% respectively. The newly produced DNA was submitted to NCBI and accession number was obtained (MW052563.1). Results of current study provided information about the molecular and morphological identification of Genus Uromastyx. In our recommendation, comprehensive molecular based identification of Pakistan's reptiles is required to report any new or subspecies from country.

Resumo Durante o presente estudo, os espécimes foram coletados em locais selecionados do deserto do Cholistan e da Reserva de Caça de Kalabagh, província de Punjab, Paquistão. Cada espécime capturado foi etiquetado com o número do comprovante e medidas morfométricas foram realizadas. O comprimento médio do focinho à cloaca foi de 172,559 ± 1,40 mm, e o peso médio foi de 92,1 ± 1,30 g. O DNA de Uromastyx hardwickii foi amplificado e sequenciado usando o conjunto de primer 16S rRNA. A sequência de DNA obtida mostrou identificação de espécies confiável e clara. Após o corte de bases ambíguas, o fragmento de rRNA 16S obtido tinha 520 pb, enquanto os fragmentos de rRNA 16S alinhados com a sequência próxima do NCBI composta por 510 pb. Sequências semelhantes do gênero Uromastyx foram recuperadas do NCBI em pesquisas de explosão. A árvore de união de vizinhos do gênero Uromastyx foi construída com base na distância-p usando MEGA X. A variação intraespecífica média foi de 0,095 ± 0,01, enquanto a variação intraespecífica foi de 0-1%. Da mesma forma, a variação interespecífica de Uromastyx hardwikii com Saara asmussi, Uromastyx alfredschmidti, Uromastyx geyri, Uromastyx thomasi, Uromastyx alfredschmidti foi de 0-12%, 0-19%, 0-19%, 0-20%, 12-19%, respectivamente. O DNA recém-produzido foi submetido ao NCBI e o número de acesso foi obtido (MW052563.1). Os resultados do estudo atual forneceram informações sobre a identificação molecular e morfológica do Gênero Uromastyx. Em nossa recomendação, a identificação de base molecular abrangente de répteis do Paquistão é necessária para relatar qualquer nova ou subespécie do país.

Mobilization of seed storage proteins is crucial to high vigor in common bean seeds / Mobilização das proteínas de reserva é crucial para o alto vigor em sementes de feijão

Seed germination is a complex process controlled by many factors, in which physical and biochemical mechanisms are involved and the mobilization of reserves is crucial for this process to occur. Although, seed reserve mobilization is usually thought to be a post-germination process, seed reserve proteins mobilization occurs during germination. This study quantified seed proteins of bean genotypes during different hydration times, in order to understand the process of protein mobilization and whether there is relationship of this biochemical component with seed vigor. This study was conducted using seeds with different levels of vigor, genotypes with highest (13, 42, 55 and 81) and lowest (07, 23, 44, 50, IPR-88-Uirapurú and Iapar 81) physiological quality. High vigor genotypes showed greater efficiency in hydrolysis and mobilization of protein component, because they presented low globulins content in cotyledons at radicle protrusion in relation to low vigor genotypes (07, 23 and 50). The protein alpha-amylase inhibitor, observed in all genotypes, is involved with the longer time needed for radicle protrusion, according to the band intensity difference in genotypes 07, 44 and Iapar 81.

A germinação de sementes é um processo complexo controlado por muitos fatores, nos quais mecanismos físicos e bioquímicos estão envolvidos e a mobilização de reservas é decisiva para que esse processo ocorra. Embora a mobilização de reservas de sementes seja considerada um processo pós-germinativo, a mobilização das proteínas de reserva de sementes ocorre durante a germinação. Este estudo teve como objetivo quantificar as proteínas de sementes de genótipos de feijão durante os diferentes tempos de hidratação, a fim de compreender o processo de mobilização proteica e se há relação desse componente bioquímico com o vigor das sementes. Este estudo foi realizado utilizando sementes com diferentes níveis de vigor, genótipos com maior (13, 42, 55 e 81) e menor (07, 23, 44, 50, IPR-88-Uirapurú e Iapar 81) qualidade fisiológica. Os genótipos de alto vigor apresentaram maior eficiência na hidrólise e mobilização do componente proteico, pois apresentaram baixo teor de globulinas nos cotilédones na protrusão radicular em relação aos genótipos de baixo vigor (07, 23 e 50). A proteína inibidora da alfa-amilase, observada em todos os genótipos, está envolvida com o maior tempo necessário para a protrusão da radícula, de acordo com a diferença de intensidade da banda nos genótipos 07, 44 e Iapar 81.

Identificación molecular y diversidad genética de las especies de nematodos Globodera rostochiensis y G. pallida en regiones productoras de papa de Guatemala / Molecular identification and genetic diversity of the species of nematodesGlobodera rostochiensisandG. pallidain potato growing regions of Guatemala

En Guatemala, la producción del cultivo de papa se ve afectada por los nematodos Globodera rostochiensis y Globo-dera pallida. La capacidad de ambas especies para formar quistes complica su control y provoca el aumento de sus poblaciones. En Guatemala se reporta la presencia de ambas especies de nematodos por identificación morfológica, sin embargo, no se ha realizado una confirmación molecular. Este es el primer estudio para validar la presencia de ambas especies de nematodos por PCR múltiple y la determinación de la diversidad y estructura genética de las poblaciones utilizando marcadores moleculares. Se realizaron muestreos en cuatro departamentos productores de papa del país. La identificación por PCR se realizó con el cebador común ITS5 y los cebadores PITSr3 específico para G. rostochiensisy PITSp4 para G. pallida. La caracterización molecular se realizó con el marcador AFLP. Se confirmó la presencia de las dos especies de nematodos en los cuatro departamentos. Los índices de diversidad Shannon y heterocigosidad esperada revelaron mayor diversidad genética en G. rostochiensis (H = 0.311, He = 0.301) que en G. pallida (H = 0.035, He = 0.223). Los métodos NJ, DAPC y PCA exhibieron una débil estructura entre las poblaciones de ambas especies de nematodos. Los resultados sugieren un patrón de dispersión desde Quetzaltenango hacia el resto del país, atribuido a la comercialización de semilla contaminada con nematodos. Se sugiere promover programas de socialización sobre los beneficios del uso de semilla certificada, además de constantes monitoreos moleculares para un diagnóstico certero de ambas especies de nematodos.

In Guatemala, potato crop production is affected by the nematodes Globodera rostochiensis and Globodera pallida. The ability of both species to form cysts complicates their control and causes an increase in their populations. In Guatemala, both species of nematodes have been reported by morphological identification; however, molecular confirmation has not been carried out. It is the first study to validate the presence of both nematode species by multiplex PCR and determine the diversity and genetic structure of the populations using molecular markers. Sampling was carried out in four pota-to-producing departments of the country. PCR identification was performed with the common primer ITS5 and the primers PITSr3 specific for G. rostochiensis and PITSp4 for G. pallida. We performed molecular characterization with the AFLP marker. We confirmed the presence of the two nematode species in the four departments. Shannon diversity and expected heterozygosity indices revealed higher genetic diversity in G. rostochiensis (H = 0.311, He = 0.301) than in G. pallida (H = 0.035, He = 0.223). The NJ, DAPC, and PCA methods exhibited weak structure among populations of both nematode species. The results suggest a dispersal pattern from Quetzaltenango to the rest of the country, attributed to the commer-cialization of seed contaminated with nematodes. We suggest promoting socialization programs on the benefits of using certified seeds and constant molecular monitoring for an accurate diagnosis of both species of nematodes.

Actn3 gene polymorphism and factors associated with functional performance in elderly women assisted in primary health care / Polimorfismo do gene actn3 e os fatores associados ao desempenho funcional de idosas atendidas na atenção primária em saúde

ABSTRACT Objective: To analyze potential influences of the R/X genetic polymorphism of the ACTN3 gene, as well as of anthropometric and metabolic characteristics on the functional performance of elderly women assisted in primary health care. Method: One hundred and forty-one elderly women were assessed in terms of anthropometric, metabolic and functional aspects, in addition to clinical, cognitive and demographic characteristics. Allele and genotype frequencies of ACTN3 gene polymorphism were determined. Results: 141 elderly women (68.30 ± 6.18 years) were evaluated. No significant differences (p > 0.05) were observed between the RR and RX/XX genotypes in the elderly women's functional performance, anthropometric or metabolic characteristics. The TUG test completion time showed positive correlations with age, body mass index, waist circumference, and fat percentage (s = 0.315; p < 0.001; s = 0.238; p = 0.005; s = 0.174; p = 0.039; s = 0.207; p = 0.014), respectively. Negative correlations were found between the TUG test with absolute handgrip strength (s = - 0.314; p < 0.001) and relative handgrip strength (s = - 0.380; p < 0.001). Conclusion: In our study, there were no influences from ACTN3 gene polymorphisms on the functional performance of the elderly women, which is influenced by other factors.

RESUMO Objetivo: analisar as potenciais influências do polimorfismo genético R/X do gene ACTN3 e das características antropométricas e metabólicas no desempenho funcional de mulheres idosas atendidas na atenção primária em saúde. Método: Cento e quarenta e uma idosas foram avaliadas em relação as características antropométricas, metabólicas, funcionais, aspectos clínicos, cognitivos e demográficos. Foram determinadas as frequências de alelos e genótipos do polimorfismo do gene ACTN3. Resultados: 141 idosas (68,30 ± 6,18 anos) foram avaliadas. Não foram observadas diferenças significativas (p > 0,05) entre os genótipos RR e RX/XX no desempenho funcional, características antropométricas ou metabólicas das idosas. O tempo de realização do TUG apresentou correlações positivas com idade, índice de massa corporal, circunferência da cintura e percentual de gordura (s = 0,315; p < 0,001; s = 0,238; p = 0,005; s = 0,174; p = 0,039; s = 0,207; p = 0,014) respectivamente. Correlações negativas foram observadas entre o TUG com força de preensão manual absoluta (s = - 0,314; p < 0,001) e relativa (s = - 0,380; p < 0,001). Conclusão: Em nosso estudo, não foram observadas influências dos polimorfismos do gene ACTN3 no desempenho funcional das idosas, sendo este, influenciado por outros fatores.

Sequence analysis of the internal transcribed spacer 2 (ITS2) region of rDNA for identifying Trichogramma species and evaluating genetic diversity / Análise de sequência do rDNA da região espaçadora do transcrito interno 2 (ITS2) para identificar espécies de Trichogramma e avaliar a diversidade genética

Abstract Species of Trichogramma Westwood, 1833 (Hymenoptera: Trichogrammtidae) are frequently used as biological control agents against Lepidoptera, but practical application of these egg endoparasitoids are complicated because of their complex taxonomy. This study aimed to compare sequences of internal transcribed spacer regions of ribosomal DNA (ITS2-rDNA) of Trichogramma accessions with those deposited in GenBank in order to access the reliability of the ITS2 as a barcode for discriminating species and evaluating the genetic diversity. ITS2-rDNA sequences obtained from seventeen specimens of Trichogramma confirmed previous identifications based on morphological characteristics. Multiple sequence alignment revealed the existence of highly conserved regions in ITS2 sequences while the neighbour-joining dendrogram indicated that the specimens formed three clusters comprising T. manicobai and T. marandobai (group I), T. galloi (group II) and T. pretiosum (group III). The ITS2 marker was shown to be a powerful DNA barcode for discriminating Trichogramma species and could be used to complement the morphological approach.

Resumo Espécies de Trichogramma Westwood, 1833 (Hymenoptera: Trichogrammatidae) são freqüentemente usadas como agentes de controle biológico contra Lepidoptera, esses endoparasitóides de ovos apresentam taxonomia complexa, o que dificulta sua aplicação prática. Este estudo teve como objetivo comparar seqüências de regiões espaçadoras internas transcritas de DNA ribossômico (ITS2-rDNA) de acessos de Trichogramma com aquelas depositadas no GenBank, a fim de avaliar a confiabilidade do ITS2 barcode para discriminar espécies e avaliar a diversidade genética. As seqüências de ITS2-rDNA obtidas de dezessete espécimes de Trichogramma confirmaram identidades anteriores com base em características morfológicas. O alinhamento de múltiplas sequências revelou a existência de regiões altamente conservadas nas sequências ITS2, enquanto o dendrograma indicou que os espécimes formavam três grupos compreendendo T. manicobai e T. marandobai (grupo I), T. galloi (grupo II) e T. pretiosum (grupo III). O marcador ITS2 mostrou ser um poderoso DNA barcode para discriminar espécies de Trichogramma podendo ser usado como complemento da abordagem morfológica.

DNA Barcoding unveils cryptic lineages of Hoplias malabaricus from Northeastern Brazil / DNA Barcoding revela linhagens crípticas de Hoplias malabaricus no nordeste do Brasil

Abstract The trahira or wolf fish - Hoplias malabaricus- is a valid species, although recent cytogenetic and molecular studies have indicated the existence of a species complex. In this context, the present study analyzed the mitochondrial COI marker to determine the levels of genetic diversity of specimens from the Brazilian state of Maranhão, and verify the occurrence of distinct lineages within the study area. Samples were collected from the basins of the Turiaçu, Pindaré, Mearim, Itapecuru, and Parnaíba rivers. A 630-bp fragment was obtained from 211 specimens, with 484 conserved and 108 variable sites, and 60 haplotypes (Hd = 0,947; π = 0,033). The phylogenetic analyses indicated the existence of three distinct lineages of H. malabaricus from Maranhão. Genetic distances of 1.5-8.2% were found between all the populations analyzed, while the variation between haplogroups ranged from 2.1% to 7.7%. The AMOVA indicated that most of the molecular variation was found among groups, with high FST values. The high levels of genetic variability found in the present study are supported by the available cytogenetic data. These findings reinforce the need for the development of effective programs of conservation and management independently for each river basin, in order to preserve the genetic variability found in this taxon.

Resumo A traíra - Hoplias malabaricus- é uma espécie válida, embora recentes estudos citogenéticos e moleculares tenham indicado a existência de um complexo de espécies. Neste contexto, o presente estudo analisou o marcador mitocondrial COI para determinar os níveis de diversidade genética dos espécimes do estado do Maranhão e verificar a ocorrência de linhagens distintas dentro da área de estudo. As amostras foram coletadas nas bacias dos rios Turiaçu, Pindaré, Mearim, Itapecuru e Parnaíba. As análises filogenéticas indicaram a existência de três linhagens distintas nas populações do Maranhão. Obteve-se um fragmento de 630 pb de 211 espécimes, com 484 sítios conservados, 108 variáveis e 60 haplótipos (Hd = 0,947; π = 0,033). As análises filogenéticas indicaram a ocorrência de três linhagens distintas de H. malabaricus do Maranhão. Distâncias genéticas de 1.5 a 8.2% foram encontradas entre todas as populações analisadas, enquanto a variação entre os haplogrupos variou de 2.1% a 7.7%. A AMOVA indicou que a maior variação molecular foi entre os grupos, com altos valores de FST. Os altos níveis de variabilidade genética encontrados no presente estudo são suportados pelos dados citogenéticos disponíveis. Essas descobertas reforçam a necessidade de desenvolver programas de conservação e manejo independentemente para cada bacia hidrográfica, a fim de preservar a variabilidade genética encontrada neste táxon.

Population structure and phylogenetic relationships in Brassica rapa L. subspecies by using isozyme markers / Estrutura populacional e relações filogenéticas em subespécies de Brassica rapa L. utilizando marcadores isoenzimáticos

Abstract The present study aimed to assess population structure and phylogenetic relationships of nine subspecies of Brassica rapa L. represented with thirty-five accessions cover a wide range of species distribution area using isozyme analysis in order to select more diverse accessions as supplementary resources that can be utilized for improvement of B. napus. Enzyme analysis resulted in detecting 14 putative polymorphic loci with 27 alleles. Mean allele frequency 0.04 (rare alleles) was observed in Cat4A and Cat4B in sub species Oleifera accession CR 2204/79 and in subspecies trilocularis accessions CR 2215/88 and CR 2244/88. The highest genetic diversity measures were observed in subspecies dichotoma, accession CR 1585/96 (the highest average of observed (H0) and expected heterozygosity (He), and number of alleles per locus (Ae)). These observations make this accession valuable genetic resource to be included in breeding programs for the improvement of oilseed B. napus. The average fixation index (F) is significantly higher than zero for the analysis accessions indicating a significant deficiency of heteozygosity. The divergence among subspecies indicated very great genetic differentiation (FST = 0.8972) which means that about 90% of genetic diversity is distributed among subspecies, while 10% of the diversity is distributed within subspecies. This coincides with low value of gene flow (Nm = 0.0287). B. rapa ssp. oleifera (turnip rape) and B. rapa ssp. trilocularis (sarson) were grouped under one cluster which coincides with the morphological classification.

Resumo O presente estudo teve como objetivo avaliar a estrutura populacional e as relações filogenéticas de nove subespécies de Brassica rapa L. representadas com 35 acessos, cobrindo uma ampla gama de áreas de distribuição de espécies usando análise isoenzimática, a fim de selecionar acessos mais diversos como recursos suplementares que podem ser utilizados para melhoria de B. napus. A análise enzimática resultou na detecção de 14 loci polimórficos putativos com 27 alelos. A frequência média de 0,04 alelo (alelos raros) foi observada em Cat4A e Cat4B, nas subespécies Oleifera CR 2204/79 e nas subespécies trilocularis CR 2215/88 e CR 2244/88. As maiores medidas de diversidade genética foram observadas na subespécie dicotômica CR 1585/96 (a média mais alta observada (H0) e heterozigosidade esperada (He) e número de alelos por locus (Ae). Essas observações tornam esse acesso um valioso recurso genético a ser incluído em programas de melhoramento de oleaginosas B. napus. O índice médio de fixação (F) é significativamente maior que 0 para os acessos à análise, indicando uma deficiência significativa de heterozigose. A divergência entre as subespécies indicou uma grande diferenciação genética (FST = 0,8972), o que significa que cerca de 90% da diversidade genética é distribuída entre as subespécies, enquanto 10% da diversidade é distribuída nas subespécies. Isso coincide com o baixo valor do fluxo gênico (Nm = 0,0287). B. rapa ssp. oleifera (nabo) e B. rapa ssp. trilocularis (sarson) foram agrupados conforme a classificação morfológica.

Phenotypic and genetic variation of Triatoma costalimai (Hemiptera: Reduviidae)

Abstract INTRODUCTION: We aimed to study intraspecific variation in Triatoma costalimai, a potential vector of Chagas disease present in Brazil and Bolivia. METHODS: We analyzed phenotypic (connexivum color patterns, wing morphometrics) and genetic variation (16S mtDNA) of three Brazilian T. costalimai populations. We compared 16S sequences with those of putative Bolivian T. costalimai and its sister species, T. jatai. RESULTS: Brazilian populations had different connexivum color patterns and forewing shapes. A 16S mtDNA haplotype network showed a clear separation of Brazilian T. costalimai from both T. jatai and Bolivian T. costalimai. CONCLUSIONS: We report considerable variability in T. costalimai populations.

Plasmodium vivax metacaspase 1 (PvMCA1) catalytic domain is conserved in field isolates from Brazilian Amazon

In the present study, we investigated the genetic diversity of Plasmodium vivax metacaspase 1 (PvMCA1) catalytic domain in two municipalities of the main malaria hotspot in Brazil, i.e., the Juruá Valley, and observed complete sequence identity among all P. vivax field isolates and the Sal-1 reference strain. Analysis of PvMCA1 catalytic domain in different P. vivax genomic sequences publicly available also revealed a high degree of conservation worldwide, with very few amino acid substitutions that were not related to putative histidine and cysteine catalytic residues, whose involvement with the active site of protease was herein predicted by molecular modeling. The genetic conservation presented by PvMCA1 may contribute to its eligibility as a druggable target candidate in vivax malaria.

Systematic review on the biology, ecology, genetic diversity and parasite transmission potential of Panstrongylus geniculatus (Latreille 1811) in Latin America

Panstrongylus geniculatus (Latreille, 1811) is the triatomine with the largest geographic distribution in Latin America. It has been reported in 18 countries from southern Mexico to northern Argentina, including the Caribbean islands. Although most reports indicate that P. geniculatus has wild habitats, this species has intrusive habits regarding human dwellings mainly located in intermediate deforested areas. It is attracted by artificial light from urban and rural buildings, raising the risk of transmission of Trypanosoma cruzi. Despite the wide body of published information on P. geniculatus, many knowledge gaps exist about its biology and epidemiological potential. For this reason, we analysed the literature for P. geniculatus in Scopus, PubMed, Scielo, Google Scholar and the BibTriv3.0 databases to update existing knowledge and provide better information on its geographic distribution, life cycle, genetic diversity, evidence of intrusion and domiciliation, vector-related circulating discrete taxonomic units, possible role in oral T. cruzi transmission, and the effect of climate change on its biology and epidemiology.

Population structure and ancestry prediction of Aedes aegypti (Diptera: Culicidae) supports a single African origin of Colombian populations

BACKGROUND A previous phylogeographic study revealed two Aedes aegypti African-related mitochondrial lineages distributed in Colombian's cities with different eco-epidemiologic characteristics with regard to dengue virus (DENV). It has been proposed these lineages might indicate independent invasion sources. OBJECTIVES Assessing to Colombian population structure and to support evidence of its probable source origin. METHODS We analysed a total of 267 individuals from cities of Bello, Riohacha and Villavicencio, which 241 were related to the West and East African mitochondrial lineages (termed here as WAL and EAL, respectively). Eight polymorphic microsatellite loci were analysed aiming population structure. FINDINGS Results indicate substantial gene flow among distant and low-connected cities composing a panmictic population with incipient local differentiation of Ae. aegypti is placed in Colombia. Likewise, genetic evidence indicates no significant differences among individuals related to WAL and EAL is placed. MAIN CONCLUSIONS Minimal genetic differentiation in low-connected Ae. aegypti populations of Colombia, and lack concordance between mitochondrial and nuclear genealogies suggest that Colombian Ae. aegypti shared a common demographic history. Under this scenario, we suggest current Ae. aegypti population structure reflects a single origin instead of contemporary migration, which founding populations have a single source from a mitochondrial polymorphic African ancient.

CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico

Abstract Background: Alopecia areata is an autoimmune disease that produces non-scarring hair loss around the body. Gene variants of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, a negative regulator of T-cell response, have been associated with a predisposition to autoimmune diseases in different populations; however, the involvement of these genetic variants in the development of AA is controversial. Objective: The present study evaluated the potential association of two CTLA4 gene variants with alopecia areata in a Mexican population. Methods: We genotyped +49AG (rs231775) and CT60 (rs3087243) variants in 50 AA patients and 100 healthy control participants through PCR-RFLP. Results: No statistical difference was observed for either of the gene variants regarding allele or genotype frequencies between AA patients and the controls when the parameters of family/personal history of autoimmune diseases or gender were considered (p > 0.05). Study limitations: Small sample size of patients and the data were obtained from Northeast Mexico population. Conclusion: The genetic variants rs231775 and rs3087243 of the CTLA4 gene are not a risk factor for the development of alopecia areata in the analyzed Mexican population.

Evidence for the true type-locality of Rhamdia quelen (Siluriformes: Heptapteridae), and the geographical origin and invalid neotype designation of four of its synonyms

Historical information on the probable type-locality of Pimelodus quelen and of its four junior synonyms that share the same neotype, Pimelodus namdia, Pimelodus sebae, Heterobranchus sextentaculatus, and Silurus rivularis, is presented and discussed. The neotype designation for those four species is deemed invalid for not complying with the provisions of the International Code of Zoological Nomenclature, making it technically possible to revalidate any of the four taxa from the synonymy of Rhamdia quelen without having to address the International Commission of Zoological Nomenclature. The type-locality of both Curimata gilbert and Callichthys asper are also restricted to rio Macacu at the village of Japuíba, State of Rio de Janeiro, Brazil.(AU)

São apresentadas e discutidas informações históricas sobre as prováveis localidades-tipo de Pimelodus quelen e seus quatro sinônimos juniores que compartilham o mesmo neótipo, Pimelodus namdia, Pimelodus sebae, Heterobranchus sextentaculatus e Silurus rivularis. A designação do neótipo para essas quatro espécies é considerada inválida por não estar em conformidade com as disposições do Código Internacional de Nomenclatura Zoológica, tornando tecnicamente possível revalidar qualquer um dos quatro táxons da sinonímia de Rhamdia quelen sem ter que apelar à Comissão Internacional de Nomenclatura Zoológica. As localidades-tipo de Curimata gilbert e Callichthys asper também são restringidas ao rio Macacu na vila de Japuíba, estado do Rio de Janeiro, Brasil.(AU)

Electric eels galore: microsatellite markers for population studies

Fourteen novel microsatellite loci are described and characterized in two species of electric eels, Electrophorus variiand E. voltaifrom floodplains and rivers of the Amazon rainforest. These loci are polymorphic, highly informative, and have the capacity to detect reliable levels of genetic diversity. Likewise, the high combined probability of paternity exclusion value and low combined probability of genetic identity value obtained demonstrate that the new set of loci displays suitability for paternity studies on electric eels. In addition, the cross-amplification of electric eel species implies that it may also be useful in the study of the closely related E. electricus, and to other Neotropical electric fishes (Gymnotiformes) species as tested herein.(AU)

Catorze novos loci microsatélites são descritos e caracterizados em duas espécies de poraquês, Electrophorus varii e E. voltai de planícies alagadas e rios da floresta amazônica. Esses loci são polimórficos, altamente informativos e têm a capacidade de detectar níveis confiáveis de diversidade genética. Da mesma forma, o alto valor de exclusão de paternidade combinado com a baixa probabilidade de identidade genética demonstra que o novo conjunto de loci exibe adequação para estudos de paternidade em poraquês. Além disso, a amplificação cruzada de espécies de peixes elétricos implica que também pode ser útil no estudo da espécie intimamente relacionada E. electricus, e de outras espécies de peixes elétricos neotropicais (Gymnotiformes).(AU)

Diversidad genética de materiales nativos de aguacate guatemalteco a través del marcador molecular AFLP / Genetic diversity of native Guatemalan avocado through AFLP molecular marker

El aguacate es un cultivo de consumo a nivel mundial, y según teorías recientes, se sugiere a la región de la Sierra Nevada, en California, como centro de origen y, a Guatemala, como uno de los principales centros de domesticación. Mediante caracterizaciones morfológicas se ha reportado una alta diversidad genética en el país, pero debido al comportamiento de polinización cruzada e hibridaciones interraciales, no se ha podido detallar el estado genético actual de la especie. Sin embargo, los marcadores moleculares son útiles para este tipo de estudios al enfocarse en las diferencias a nivel del ADN. Este estudio analizó la diversidad genética del aguacate nativo guatemalteco de siete poblaciones geográficas con el marcador molecular AFLP. Los datos de estructura poblacional mostraron un alto grado de diversidad a nivel de individuos (Ht = 0.1933, Hw = 0.1872) y baja diferenciación entre poblaciones (Hb = 0.0061). Los resultados sugieren una alta tasa de migración que influye directamente en el grado de mezcla genética de los materiales analizados. El bajo índice de estructura poblacional apunta a un alto flujo genético entre las poblaciones, por lo que la especie no presenta mayor riesgo ante la deriva genética, minimizándose el riesgo de pérdida de alelos por fijación. Se sugiere el resguardado del recurso fitogénetico total y no únicamente de materiales promisorios, evitando así el riesgo de erosión genética de la especie y garantizando la permanencia de la diversidad genética, la cual será la base de futuros programas de mejoramiento.

Avocado is one of the most widely consumed crops worldwide and according to new theories, the Sierra Nevada region in California is suggested as the center of origin and Guatemala as one of the main domestication cen-ters. Through morphological characterizations, a high genetic diversity has been reported in the country, but due to the behavior of cross pollination and interracial hybridizations, it has not been possible to detail the current genetic status of the species. Molecular markers are useful for this type of study by focusing on differences at DNA level. This study analyzed the genetic diversity of the native Guatemalan avocado from seven geographic populations with AFLP molecular marker. Population structure data showed a high degree of diversity at the individual level (Ht = 0.1933, Hw = 0.1872) and low differentiation between populations (Hb = 0.0061). The results suggest a high rate of migration that directly influences the degree of genetic mixing of the analyzed materials. The low index of population structure points to a high genetic flow between populations, so that the species does not present a greater risk due to genetic drift, minimizing the risk of loss of alleles due to fixation. The protection of the total genetic resource is suggested, and not only of promising materials, thus avoiding the risk of genetic erosion of the species and guaranteeing the permanence of genetic diversity, which will be the basis of future breeding programs.

Molecular screening for Vel- blood type and analysis of SMIM1 gene variants / 中华医学遗传学杂志

OBJECTIVE@#To screen for Vel- rare blood type donors and determine the frequency of SMIM1 c.64_80del allele in Yili Prefecture of Xinjiang, China.@*METHODS@#DNA pooling and PCR-sequence-specific primers (PCR-SSP) was conducted to screen individuals carrying the SMIM1 c.64_80del variant, and Sanger sequencing of SMIM1 exon 3 was carried out to verify the genotype of those with the variation. SMIM1 intron 2 was also sequenced to identify single nucleotide polymorphisms (SNPs) that may affect the expression of Vel antigen.@*RESULTS@#Among 3328 blood donors, 14 were identified as heterozygotes for the SMIM1 c.64_80del allele, its allele frequency was 0.21%; no homozygous SMIM1 c.64_80 deletions was found. For SNP rs1175550, all of the 14 individuals had an AA genotype, among whom 5 carried heterozygous 7111ins GCA variant in intron 2.@*CONCLUSION@#The allelic frequency of SMIM1 c.64_80del in Yili area is approximately 0.21%, which is reported for the first time.

Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder / Sequenciamento do exoma no ceratocone familiar: os desafios de uma doença genética complexa

ABSTRACT Purpose: The underlying genetic causes of keratoconus are essentially unknown. Here, we conducted whole-exome sequencing in 2 Brazilian families with keratoconus. Methods: Whole-exome sequencing was performed on 6 keratoconus-affected individuals of 2 unrelated pedigrees from Southern Brazil. Pathogenic variants were identified in a modified Trio analysis (1 parent and 2 children) using candidate gene filtering. All the affected subjects underwent detailed corneal tomographic evaluation. Clinically relevant variants that were present in affected individuals at minor allele frequencies <1% were examined in the 1000 Genomes Project single nucleotide polymorphism ABraOM and transcription gene (RefSeq and Ensembl) databases. Results: In family 1, a sequence variant in chromosome 1 (q21.3) was observed within the filaggrin gene. All the tested family members shared a heterozygous missense pathogenic variant in the c.4678C>T position. In family 2, exome analysis demonstrated a sequence variant in chromosome 16 (q24.2) within the gene encoding zinc finger protein 469 (ZNF469). Members of family 2 shared a heterozygous missense variant in the c.1489G>A position. In addition, the exomes of the 2 families were examined for shared genetic variants among all affected individuals. Filtering criteria did not identify any rare sequence variants in a single gene segregated in both families. Conclusion: Our findings show that a complete genotype-phenotype correlation could not be identified, suggesting that keratoconus is a genetically heterogeneous disease. In addition, we believe that whole-exome sequencing-based segregation analysis is probably not the best strategy for identifying variants in families with isolated keratoconus.

RESUMO Objetivos: As causas genéticas subjacentes do ceratocone são essencialmente desconhecidas. Aqui, realizamos o sequenciamento de todo exoma de duas famílias brasileiras com ceratocone. Métodos: O sequenciamento total do exoma foi realizado em 6 indivíduos com ceratocone de duas famílias distintas do sul do Brasil. Variantes patogênicas foram identificadas em uma análise no formato de trio-modificada (um dos pais e dois filhos) usando a filtragem de genes candidatos. Todos os indivíduos afetados passaram por avaliação de tomografia de córnea. Variantes clinicamente relevantes que estavam presentes em indivíduos afetados em menores frequências alélicas <1% foram avaliadas na base de dados de polimorfismo de nucleotídeo único do 1000 Genomes Project ABraOM e do gene de transcrição (RefSeq e Ensembl). Resultados: Na família 1, uma variante de sequência no cromossomo 1 (q21.3) foi observada dentro do gene da filagrina. Todos os membros dessa família compartilhavam uma mutação missense na posição c.4678C>T. Na família 2, a análise do exoma demonstrou uma variante alélica no cromossomo 16 (q24.2) dentro do gene que codifica a proteína de dedo de zinco 469 (ZNF469). Os membros dessa família compartilham uma mutação missense heterozigota na posição c.1489G>A. Além disso, os exomas das duas famílias foram avaliados para variantes genéticas compartilhadas entre todos os indivíduos afetados. Os critérios de filtragem não identificaram variantes de sequência rara em um único gene segregado em ambas as famílias. Conclusão: Nossos achados indicam que uma completa correlação genótipo-fenótipo não pode ser identificada, sugerindo que o ceratocone é uma doença geneticamente heterogênea. Além disso, acreditamos que análises de segregação baseadas no sequenciamento de todo exoma provavelmente não é a melhor estratégia para identificar variantes em famílias isoladas com ceratocone.

Class III Malocclusion: Missense Mutations in DUSP6 Gene

Objective: To determine the DUSP6 gene mutation in three generations of Malaysian Malay subjects having Class III malocclusion. Material and Methods: Genetic analyses of DUSP6 gene were carried out in 30 subjects by selecting three individuals representing three generations, respectively, from ten Malaysian Malay families having Class III malocclusion and 30 healthy controls. They were submitted Clinical Evaluation to clinical examination, lateral cephalometric radiographs, dental casts, and/ or facial and intra-oral photographs. Buccal cell was taken from each participant of Class III malocclusion and control groups. DNA extractions from buccal cell were carried out using Gentra puregene buccal cell kit. Bio Edit Sequence Alignment Editor software was used to see the sequencing result. Results: A heterozygous missense mutation c.1094C>T (p. Thr 365 Ile) was identified in DUSP6 gene in three members of one family with Class III malocclusion, whereas no mutation was found in the control group. Conclusion: Current study successfully identified a missense mutation in DUSP6 gene among one Malaysian Malay family affected by Class III malocclusion. The outcome of this study broadened the mutation spectrum of Class III malocclusion and the importance of DUSP6 gene in skeletal functions.

Genetic causes of isolated short stature

ABSTRACT Short stature is a common feature, and frequently remains without a specific diagnosis after conventional clinical and laboratorial evaluation. Longitudinal growth is mainly determined by genetic factors, and hundreds of common variants have been associated to height variability among healthy individuals. Although isolated short stature may be caused by the combination of variants, with a deleterious impact on the growth of individuals with polygenic inheritance, recent studies have pointed out some monogenic defects as the cause of the growth disorder observed in nonsyndromic children. The majority of these defects are in genes related to the growth plate cartilage and in the growth hormone (GH) - insulin-like growth factor 1 (IGF-1) axis. Affected patients usually present the mildest spectrum of some forms of skeletal dysplasia, or subtle abnormalities of laboratory tests, suggesting hormonal resistance or insensibility. The lack of specific characteristics, however, does not allow formulation of a definitive diagnosis without the use of broad genetic studies. Thus, molecular genetic studies including panels of genes or exome analysis will become essential in investigating and identifying the causes of isolated short stature in children, with a crucial impact on treatment and follow-up.