Breeding systems in Oxypetalum appendiculatum Mart. and Oxypetalum banksii Roem. & Schult. subsp. banksii (Asclepiadaceae)

Studies on the breeding systems of O. appendiculatum and O. banksii subsp. banksii were carried out at Viçosa, Minas Gerais State, southeastern Brazil. Both species are self-compatible and seeds that resulted from self- and cross-pol linatio'ns presented a high viability. The low rate of fruit set in O. banksii subsp. banksii flowers exposed to visitors (open pollination) may be related to the lack of pollination (extrinsic factor). In O. appendiculatum the low rate of fruit set can be related to intrinsic factors, regulated by the plant itself. Interspecific pollinations resulted in viable seeds and the F1 hybrid presented 64% of fertile flowers; this hybrid has not yet been found under natural conditions. Self-pollinations in F1 flowers also yielded viable seeds.Estudos sobre o sistema reprodutivo de O. appendiculatum e O. banksii subsp. banksii foram realizados em Viçosa, MG, sudeste do Brasil. Ambas são autocompatíveis e a viabilidade das sementes, resultantes de autopolinizações e polinizações cruzadas, é alta. A baixa taxa de produção de frutos em flores de O. banksii subsp. banksii expostas aos visitantes (polinizações abertas) deve estar relacionada à falta de polinização (fator extrínseco). Em O. appendiculatum, a baixa taxa de produção de frutos deve estar relacionada a fatores intrínsecos, regulados pela planta. Polinizações interespecíficas resultaram em sementes viáveis e os híbridos F1 apresentaram 64% de flores férteis; esses híbridos não foram encontrados na natureza. Autopolinizações em flores de F1 resultaram em sementes também viáveis.237241Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES

Morfologia floral e mecanismos de polinização em espécies de Oxypetalum R. Br. (Apocynaceae, Asclepiadoideae)

Morphoanatomical and histochemical studies were carried out to better understand the floral morphology of Asclepiadoideae species and associate it to their reproductive strategies. This study, was analyzed the functional morphology of the flowers of seven Oxypetalum species in order to describe its pollination mechanisms. Floral structure was studied with fixed flowers following classical techniques. Besides, were observed the pollen tubes pathways in hand-pollinated flowers. The number of elements in each floral whorl and fusions of the elements follow the pattern observed in other Asclepiadoideae. Each pollination unit is delimited by a petal located oppositely to the anther slit, two adjacent corona elements and the gynostegium. The anther slit, formed by adjacent anther wings, represents a structure adapted to guide the pollinator mouthparts (guide rail), resulting in removal or insertion of pollinia. The nectar accumulates at the base of each petal and thus increases the chances of the mouthparts being “caught” by the anther slit during its retraction. The pollinium is inserted into the stigmatic chamber (hyperstigma), located behind the anther slit and formed by interstaminal tissue; each chamber is lined by secretory tissue (glandular epithelium, nectary). In the chamber, the pollen germinates and pollen tubes grow, following the glandular epithelium, towards the gynoecium. In the gynoecium of six species, the pollen tubes penetrate and obliterate the transmitting tissue of the solid style. Then obliterate the transmitting tissue of the hollow style corresponding to the solid style and reach the glandular epidermis of the placenta of the ovary corresponding; one follicle is produced per flower.Estudos têm abordado aspectos morfoanatômicos e histoquímicos para melhor compreender a morfologia floral de Asclepiadoideae e associá-la às suas estratégias reprodutivas. Objetivou-se analisar a morfologia funcional das flores de sete espécies de Oxypetalum para descrever seus mecanismos de polinização. A estrutura floral foi estudada com flores fixadas, seguindo técnicas clássicas. Adicionalmente, foram observados os percursos de tubos polínicos em flores polinizadas manualmente. O número de elementos de cada verticilo floral e as fusões dos elementos seguem o padrão observado em outras Asclepiadoideae. Cada unidade de polinização é delimitada por uma pétala, oposta à fenda anteral, dois elementos adjacentes de corona e o ginostégio. A fenda anteral, formada pelas alas de anteras adjacentes, representa uma estrutura adaptada para guiar o aparelho bucal do polinizador (trilho), resultando em remoção ou inserção de polínias. O néctar acumula-se na base de cada pétala e, assim posicionado, aumenta as chances do aparelho bucal ser “capturado” pela fenda estaminal durante a sua retração. A polínia é inserida em câmara estigmática (hiperestigma), localizada atrás da fenda anteral e formada por tecido interestaminal; cada câmara é forrada por tecido secretor (epitélio glandular, nectário). Na câmara, os grãos de pólen germinam e os tubos polínicos crescem, acompanhando o epitélio glandular, em direção ao gineceu. No gineceu de seis das espécies, os tubos penetram e obliteram o tecido transmissor de um dos estiletes sólidos. Em seguida, obliteram o tecido transmissor do estilete oco correspondente ao estilete sólido, até alcançar a epiderme glandular da placenta do ovário correspondente; há produção de um folículo por flor

Variations in floristic and phytosociological structure of an upper montane forest in Mantiqueira Range, Monte Verde, MG

The upper montane forests are known to have a different floristic composition and phytosociological structure from forests located at lower altitudes. A survey was carried out in an area of upper montane forest of the Mantiqueira Range near Monte Verde, municipality of Camanducaia, Minas Gerais State, Brazil. The main objective of this study was to analyze the effect of an altitudinal gradient on the floristic composition and vegetation structure. Seven blocks, each with five of 10 × 10 m plots, were located at altitudes ranging from 1,820 m to 1,940 m, and all bamboos and trees with GHB >15 cm were sampled. A total of 1,191 individuals were included, belong to 64 tree species and two bamboos in a total of 42 genera and 26 families, including the standing dead individuals. The estimated density was 3,403 ind ha-1 and the value of the Shannon-Wiener (H') index was 3.284 nat ind-1. The dead biomass had the highest importance value (42.06), followed by Pimenta pseudocaryophyllus (Gomes) Landrum (24.59), Roupala rhombifolia Mart. ex Meisn. (19.98) and Drimys brasiliensis Miers (18.57). The structural parameters maximum canopy height and number of branched individuals were correlated with altitude. Although the altitudinal gradient is relatively short, a considerable degree of species substitution was observed, leading to a well-marked floristic gradient.As florestas alto-montanas são reconhecidas por apresentarem composição florística e estrutura fitossociológica distintas das florestas em cotas altitudinais inferiores. Realizou-se um levantamento fitossociológico em uma floresta alto-montana localizada na Serra da Mantiqueira, distrito de Monte Verde, Camanducaia, Minas Gerais. O principal objetivo foi analisar o efeito do gradiente altitudinal na composição florística e na estrutura fitossociológica da vegetação. Foram instalados sete blocos paralelos com cinco parcelas contíguas de 10 × 10 m, distantes 50 m, entre 1.840 e 1.920 m de altitude. Todos os indivíduos arbóreos com CAP > 15 cm foram amostrados, assim como as moitas de bambu que continham no mínimo 10 perfilhos. Foram amostrados 1.191 indivíduos, pertencentes a 64 espécies arbóreas e duas espécies de bambu, distribuídas entre 42 gêneros e 26 famílias, além da classe de indivíduos mortos. A densidade total equivalente foi de 3.403 ind ha-1 e o índice de diversidade de Shannon-Wiener (H') foi de 3,284 nat ind-1. A biomassa morta destacou-se pelo elevado valor de importância (42,06), seguida de Pimenta pseudocaryophyllus (Gomes) Landrum (24,59), Roupala rhombifolia Mart. ex Meisn. (19,98) e Drimys brasiliensis Miers (18,57). Entre os parâmetros estruturais analisados a altura máxima do dossel e o número de indivíduos bifurcados estiveram correlacionados com a altitude. Uma considerável substituição de espécies foi observada, evidenciando um forte gradiente florístico, mesmo sendo o gradiente altitudinal amostrado relativamente curto.559574Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES

Bryophytic and phytogeographical aspects of two types of forest of the Serra do Mar State Park, Ubatuba/SP, Brazil

Bryophytes are indicators of climatic, environmental and ecology conditions and are useful in the characterization of the vegetation types. In this study, we analyzed the brioflora of 2-ha plots, one of Restinga Forest (RF) and the other of Lowland Ombrophilous Dense Forest (LF), located in the Núcleo Picinguaba, State Park of Serra do Mar (São Paulo state, Brazil) aiming to: a) compare the structure of these communities; b) compare the floristic composition between these areas and with other coastal vegetations of southeastern Brazil; c) verify if the bryophytes of the Atlantic Forest lowlands have phytogeographic patterns wider than those of the montane species. In each plot, the bryophytes samples were collected at ten randomized subplots (10 × 10 m). We found 152 species (87 liverworts, 64 mosses and one hornwort), of which 109 occur in RF (40 exclusives) and 112 in LF (43 exclusives). In terms of species richness and taxonomic diversity, LF was more diverse; however, the Simpson and Shannon index of diversity is higher in RF. The floristic composition, life form and ecological groups of light tolerance were significantly different between these two forests. Canopy opening (RF) and number of rocks (LF) were important environmental variables that influenced bryophyte distribution in the study areas. When evaluated in terms of landscape, the subplots of RF and LR form distinct floristic groups; however, at the regional level, the bryophytes of these two forest types have more similarities among themselves than with other Atlantic Forest areas. Bryophyte community observed in the Restinga Forest of Picinguaba shows more similarity with that of the neighbor Lowland Ombrophilous Dense Forest than with other Restinga or coastal formation, such as mangroves and caxetal. In both forests types studied, the majority of taxa (> 90%) is widely distributed in the world, presenting phytogeographic pattern equal to or wider than the Neotropical. Our results corroborate the idea that the RF of Picinguaba is a unique vegetation formation, presenting elements of ombrophilous and dryer forests. In addition, they reinforce the idea that, for the tropical bryophyte species, the phytogeographic patterns are wider in areas of lower altitudes.Briófitas são bioindicadoras de condições climáticas, ambientais e ecológicas, sendo úteis na caracterização de tipos vegetacionais. Neste trabalho, foi analisada a brioflora de duas áreas de 1 ha, uma de Floresta de Restinga (FR) e outra de Floresta Ombrófila Densa de Terras Baixas (TB) do Núcleo Picinguaba, PE Serra do Mar (São Paulo, Brasil), com o objetivo de: a) comparar a estrutura dessas comunidades; b) entender as relações florísticas dessas áreas entre si e com outras formações litorâneas brasileiras; c) verificar se as briófitas de áreas de baixada apresentam padrões fitogeográficos mais amplos do que aquelas de áreas montanas. As briófitas foram coletadas em 10 subparcelas (10 × 10 m) distribuídas aleatoriamente em cada fitofisionomia. Variáveis ambientais foram quantificadas e correlacionadas com a distribuição da brioflora. Foram registradas 152 espécies (87 hepáticas, 64 musgos e 1 antócero), das quais 109 ocorrem na FR (40 exclusivas) e 112 em TB (43 exclusivas). Em termos de riqueza de espécies e diversidade taxonômica, TB foi mais diversa; contudo, os índices de diversidade de Simpson e Shannon foram maiores na FR. A composição florística, tipos de forma de vida e grupos ecológicos de tolerância à luz apresentaram diferenças significativas entre as duas fitofisionomias. A abertura do dossel (FR) e rochosidade (TB) são variáveis ambientais importantes que atuam sobre a distribuição das briófitas nas áreas estudadas. Quando avaliadas em termos de paisagem, as subparcelas da FR e TB formaram grupos florísticos distintos; entretanto, em nível regional, a brioflora dessas duas fitofisionomias apresenta mais afinidades entre si do que com outras áreas de Floresta Atlântica. Em termos florísticos, a FR de Picinguaba assemelha-se mais às Florestas Ombrófilas do que a outras Restingas ou outras formações costeiras (como mangue e caxetal). Nas duas fitofisionomias, a maioria dos táxons (> 90%) é amplamente distribuída no mundo, apresentando padrão fitogeográfico igual ou maior do que o Neotropical. Nossos resultados corroboram a idéia de que a FR de Picinguaba é uma formação ímpar, apresentando em sua brioflora elementos de florestas ombrófilas entremeados àqueles de vegetações mais secas; além disso, reforçam a idéia de que, para as espécies de briófitas, os padrões fitogeográficos são mais amplos em locais de menores altitudes.425438Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are unclear. Here, we performed whole exome sequencing of a cohort of 1118 Caucasian DLB patients, and focused on genes causative of monogenic neurodegenerative diseases. We analyzed variants in 60 genes implicated in DLB, Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and atypical parkinsonian or dementia disorders, in order to determine their frequency in DLB. We focused on variants that have previously been reported as pathogenic, and also describe variants reported as pathogenic which remain of unknown clinical significance, as well as variants associated with strong risk. Rare missense variants of unknown significance were found in APP, CHCHD2, DCTN1, GRN, MAPT, NOTCH3, SQSTM1, TBK1 and TIA1. Additionally, we identified a pathogenic GRN p.Arg493* mutation, potentially adding to the diversity of phenotypes associated with this mutation. The rarity of previously reported pathogenic mutations in this cohort suggests that the genetic overlap of other neurodegenerative diseases with DLB is not substantial. Since it is now clear that genetics plays a role in DLB, these data suggest that other genetic loci play a role in this disease.Peer reviewe

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Background Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson’s disease, and Alzheimer’s disease. So far, to our knowledge, no large-scale genetic study of dementia with Lewy bodies has been done. To better understand the genetic basis of dementia with Lewy bodies, we have done a genome-wide association study with the aim of identifying genetic risk factors for this disorder. Methods In this two-stage genome-wide association study, we collected samples from white participants of European ancestry who had been diagnosed with dementia with Lewy bodies according to established clinical or pathological criteria. In the discovery stage (with the case cohort recruited from 22 centres in ten countries and the controls derived from two publicly available database of Genotypes and Phenotypes studies [phs000404.v1.p1 and phs000982.v1.p1] in the USA), we performed genotyping and exploited the recently established Haplotype Reference Consortium panel as the basis for imputation. Pathological samples were ascertained following autopsy in each individual brain bank, whereas clinical samples were collected by clinical teams after clinical examination. There was no specific timeframe for collection of samples. We did association analyses in all participants with dementia with Lewy bodies, and also in only participants with pathological diagnosis. In the replication stage, we performed genotyping of significant and suggestive results from the discovery stage. Lastly, we did a meta-analysis of both stages under a fixed-effects model and used logistic regression to test for association in each stage. Findings This study included 1743 patients with dementia with Lewy bodies (1324 with pathological diagnosis) and 4454 controls (1216 patients with dementia with Lewy bodies vs 3791 controls in the discovery stage; 527 vs 663 in the replication stage). Results confirm previously reported associations: APOE (rs429358; odds ratio [OR] 2·40, 95% CI 2·14–2·70; p=1·05 × 10–⁴⁸), SNCA (rs7681440; OR 0·73, 0·66–0·81; p=6·39 × 10–¹⁰), and GBA (rs35749011; OR 2·55, 1·88–3·46; p=1·78 × 10–⁹). They also provide some evidence for a novel candidate locus, namely CNTN1 (rs7314908; OR 1·51, 1·27–1·79; p=2·21 × 10–⁶); further replication will be important. Additionally, we estimate the heritable component of dementia with Lewy bodies to be about 36%. Interpretation Despite the small sample size for a genome-wide association study, and acknowledging the potential biases from ascertaining samples from multiple locations, we present the most comprehensive and well powered genetic study in dementia with Lewy bodies so far. These data show that common genetic variability has a role in the disease

A comprehensive screening of copy number variability in dementia with Lewy bodies

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk. (C) 2019 Elsevier Inc. All rights reserved.Peer reviewe

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies

C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB. (C) 2016 Elsevier Inc. All rights reserved.Peer reviewe