A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

PURPOSE: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss of rods. Autosomal recessive RP (arRP) is clinically and genetically heterogeneous. It has been associated with mutations in different genes, including CRB1 (crumbs homolog 1). The aim of this study was to determine the causative gene in a Tunisian patient with arRP born to non-consanguineous parents. METHODS: Four accessible family members were included. They underwent full ophthalmic examination with best-corrected Snellen visual acuity, fundus photography and fluorescein angiography. Haplotype analysis was used to evaluate homozygosity in the family to 20 arRP loci. All exons and intron-exon junctions of candidate genes not excluded by haplotype analysis were PCR amplified and directly sequenced. RESULTS: The proband was a 43-year-old female patient. Best-corrected visual acuity was 20/63 (right eye) and 20/80 (left eye). Visual loss began during the third decade. Funduscopic examination and fluorescein angiography revealed typical advanced RP changes with bone spicule-like pigment deposits in the posterior pole and the midperiphery along with retinal atrophy, narrowing of the vessels, and waxy optic discs. Haplotype analysis revealed homozygosity with microsatellite markers D1S412 and D1S413 on chromosome 1q31.3. These markers flanked CRB1. Our results excluded linkage of all the other arRP loci/genes tested. Sequencing of the 12 coding exons and splice sites of CRB1 disclosed a homozygous missense mutation in exon 7 at nucleotide c. 2291G>A, resulting in an arginine to histidine substitution (p.R764H). CONCLUSIONS: R764H is a novel mutation associated with CRB1-related arRP. Previously, an R764C mutation was reported. Extending the mutation spectrum of CRB1 with additional families is important for genotype-phenotype correlations and characterization of the scope of mutation.

Mapping of a novel viviparous unstable mutant of maize (vp 12)

A new viviparous mutant of maize (Zea mays L.), associated with genetic instability and designated viviparous-12 (vp12), was identified in a synthetic Tuxpeño adapted to tropical regions. In the present work, the linkage group of this new locus was determined. Progenies of inbred line L477 segregating for the vp12 mutant were crossed with waxy-marked reciprocal translocation stocks. The phenotypic frequencies of the wx and vp12 mutants were analyzed in F2 progenies. The results demonstrated that the Viviparous-12 locus of maize is located on the long arm of chromosome 6.

Sugarcane starch: quantitative determination and characterization

Starch is found in sugarcane as a storage polysaccharide. Starch concentrations vary widely depending on the country, variety, developmental stage, and growth conditions. The purpose of this study was to determine the starch content in different varieties of sugarcane, between May and November 2007, and some characteristics of sugarcane starch such as structure and granules size; gelatinization temperature; starch solution filterability; and susceptibility to glucoamylase, pullulanase, and commercial bacterial and fungal α-amylase enzymes. Susceptibility to debranching amylolytic isoamylase enzyme from Flavobacterium sp. was also tested. Sugarcane starch had spherical shape with a diameter of 1-3 µm. Sugarcane starch formed complexes with iodine, which showed greater absorption in the range of 540 to 620 nm. Sugarcane starch showed higher susceptibility to glucoamylase compared to that of waxy maize, cassava, and potato starch. Sugarcane starch also showed susceptibility to debranching amylolytic pullulanases similar to that of waxy rice starch. It also showed susceptibility to α-amylase from Bacillus subtilis, Bacillus licheniformis, and Aspergillus oryzae similar to that of the other tested starches producing glucose, maltose, maltotriose, maltotetraose, maltopentose and limit α- dextrin.

Characterization of new sources of derivative starches as wall materials of essential oil by spray drying

Starch derivatives of taro (Colocasia esculenta L. Schott) and rice were characterized as wall materials of orange oil (d-limonene) by spray drying. Native starches were initially hydrolyzed with HCl and then esterified. Succinylated starches were modified using a conventional method in a slurry and were extruded; whereas, the phosphorylated starches were modified using the extrusion process. Viscosity and solubility of starches reduced after acid hydrolysis, derivatization, and extrusion. The particle size of the wall materials ranged between 20.05 and 31.81 µm. The encapsulation efficiency of the phosphorylated taro, rice, and waxy corn starches was 96.9, 96.8 and 97.1% respectively, and 98.6, 98.1, and 98.8% for succynilated taro, rice, and waxy corn starches, respectively. Starch derivatives of taro and rice could potentially be used as wall materials of orange oil d-limonene.

Study on creation of an indocalamus leaf flavor

Abstract Flavors represent a small but significant segment of food industry. Sensory characteristics play an important role in the process of consumer acceptance and preference. Indocalamus leaf takes on a pleasant odor and indocalamus leaf flavor can be used in many products. However, indocalamus leaf flavor formula has not been reported. Therefore, developing an indocalamus leaf flavor is of significant interests. Note is a distinct flavor or odor characteristic. This paper concentrates on preparation and creation of indocalamus leaf flavor according to the notes of indocalamus leaf. The notes were obtained by smelling indocalamus leaf, and the results showed that the notes of indocalamus leaf flavor can be classified as: green-leafy note, sweet note, beany note, aldehydic note, waxy note, woody note, roast note, creamy note, and nutty note. According to the notes of indocalamus leaf odor, a typical indocalamus leaf flavor formula was obtained. The indocalamus leaf flavor blended is pleasant, harmonious, and has characteristics of indocalamus leaf odor.

Functional Characterization of Monoterpenoid Indole Alkaloid (MIA) Biosynthetic Genes in Catharanthus roseus

The monoterpenoid indole alkaloids (MIAs) of Madagascar periwinkle (Catharanthus roseus) are known to be among the most important source of natural drugs used in various cancer chemotherapies. MIAs are derived by combining the iridoid secologanin with tryptamine to form the central precursor strictosidine that is then converted to most known MIAs, such as catharanthine and vindoline that dimerize to form anticancer vinblastine and vincristine. While their assembly is still poorly understood, the complex multistep pathways involved occur in several specialized cell types within leaves that are regulated by developmental and environmental cues. The organization of MIA pathways is also coupled to secretory mechanisms that allow the accumulation of catharanthine in the waxy leaf surface, separated from vindoline found within leaf cells. While the spatial separation of catharanthine and vindoline provides an explanation for the low levels of dimeric MIAs found in the plants, the secretion of catharanthine to the leaf surface is shown to be part of plant defense mechanisms against fungal infection and insect herbivores. The transcriptomic databases of Catharanthus roseus and various MIA producing plants are facilitating bioinformatic approaches to identify novel MIA biosynthetic genes. Virus-induced gene silencing (VIGS) is being used to screen these candidate genes for their involvement in iridoid biosynthesis pathway, especially in the identification of 7-deoxyloganic acid 7-hydroxylase (CrDL7H) shown by the accumulation of its substrate, 7-deoxyloganic acid and decreased level of secologanin along with catharanthine and vindoline. VIGS can also confirm the biochemical function of genes being identified, such as in the glucosylation of 7-deoxyloganetic acid by CrUGT8 shown by decreased level of secologanin and MIAs within silenced plants. Silencing of other iridoid biosynthetic genes, loganic acid O-methyltransferase (LAMT) and secologanin synthase (SLS) also confirm the metabolic route for iridoid biosynthesis in planta through 7-deoxyloganic acid, loganic acid, and loganin intermediates. This route is validated by high substrate specificity of CrUGT8 for 7-deoxyloganetic acid and CrDL7H for 7-deoxyloganic acid. Further localization studies of CrUGT8 and CrDL7H also show that these genes are preferentially expressed within Catharanthus leaves rather than in epidermal cells where the last two steps of secologanin biosynthesis occur.

Dispersão de Orthezia praelonga Douglas, 1891 (Hemiptera: Ortheziidae) causada por equipamentos de pulverização em pomar de citros

A cochonilha O. praelonga é considerada uma importante praga dos citros no Brasil, e informações sobre a sua dispersão estão baseadas apenas em observações empíricas. Objetivou-se avaliar o efeito de equipamentos de pulverização comumente utilizados pelos citricultores na dispersão da praga. Armadilhas adesivas foram instaladas no solo e em vergalhões dispostos verticalmente às plantas de três linhas adjacentes em um talhão de citros contendo plantas infestadas pela praga. Foram adotados equipamentos utilizados para controle de pragas dos citros. A avaliação da dispersão foi realizada por meio da contagem de fêmeas, ninfas ou partes dos insetos aderidas às armadilhas adesivas. Os equipamentos Martignani e Bié foram capazes de lançar a praga a até 15 m, enquanto, para o equipamento Turbo Valência, detectaram-se fragmentos cerosos a até 22 m da máquina. Os equipamentos dotados de pistola não causaram qualquer dispersão da praga. Portanto, evidenciou-se que mesmo a utilização de equipamentos para controle de outras pragas pode favorecer a dispersão da cochonilha O. praelonga em pomares de citros, e isso deve ser considerado no aprimoramento do programa de manejo integrado de pragas dos citros.

Características físico-químicas de amidos modificados de grau alimentício comercializados no Brasil

Amidos nativos e modificados têm grande importância na indústria de alimentos, sendo empregados principalmente como espessantes e/ou estabilizantes. As limitações das pastas e géis obtidos a partir de amidos nativos tornaram necessário o desenvolvimento de muitos tipos de amidos modificados para aplicações alimentícias. Neste trabalho, algumas amostras de amidos modificados (n=20) disponíveis no Brasil foram recebidas de empresas produtoras e analisadas em relação a algumas características físico-químicas e propriedades tecnológicas. Um levantamento do uso de amidos modificados em alimentos também é apresentado, revelando crescente interesse pela indústria nesses ingredientes. Constatou-se que, enquanto alguns alimentos industrializados, como maioneses contêm em suas formulações amidos modificados, outros como condimento preparado de mostarda contêm apenas amido nativo. As análises físico-químicas permitiram concluir que alguns amidos modificados apresentavam teores elevados de acidez, relacionados à presença de reagentes utilizados em sua obtenção, não havendo presença de carboxilas nas suas macromoléculas. de maneira geral, os resultados de algumas propriedades tecnológicas avaliadas, tais como viscosidade aparente das pastas, resistência a congelamento/descongelamento e propriedade de expansão, estavam de acordo com a descrição dos produtos. As fontes mais observadas nas modificações foram, em ordem decrescente de importância, a mandioca, o milho ceroso e o milho regular.

Estrutura dos grânulos de amido de milho normal e ceroso

Visando obter informações a respeito da estrutura dos grânulos, amidos de milho normal e ceroso foram isolados e submetidos à ação da a-amilase e amiloglucosidase. Para elucidar a estrutura dos grânulos, os resíduos desta hidrólise foram submetidos à cromatografia de permeção em gel Sephadex G-50, diretamente e após sucessivas digestões enzimáticas com pululanase e b-amilase. Os resultados mostraram que existem diferenças nos resíduos dos amidos de milho ceroso e normal, tratados com a-amilase e amiloglucosidase. No resíduo do amido de milho ceroso, os perfis de eluição mostraram duas frações a 290 e 350 ml (picos I e II) respectivamente, que não eram suscetíveis ao ataque da a-amilase e amiloglucosidase, indicando que estas frações faziam parte das zonas cristalinas do amido. Estas frações também faziam parte das áreas cristalinas no amido normal. A presença do pico V à 390 ml na a-glucana do amido de milho normal sugeriu que além das duas frações não suscetíveis à hidrólise existia outra que também participava das zonas cristalinas deste amido como regiões não suscetíveis às enzimas formando, consequentemente, rede cristalina fortemente associada. A presença deste pico a 390 ml sugeriu arranjo cristalino distinto entre o amido de milho ceroso e o normal.

Características físico-químicas de amidos modificados com permanganato de potássio/ácido lático e hipoclorito de sódio/ácido lático

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Production of cyclodextrins by CGTase from Bacillus clausii using different starches as substrates

Cyclodextrins ( CDs) are cyclic oligasaccharides composed by D- glucose monomers joined by alpha- 1,4-D glicosidic linkages. The main types of CDs are alpha-,beta-and gamma-CDs consisting of cycles of six, seven, and eight glucose monomers, respectively. Their ability to form inclusion complexes is the most important characteristic, allowing their wide industrial application. The physical property of the CD-complexed compound can be altered to improve stability, volatility, solubility, or bio-availability. The cyclomaltodextrin glucanotransferase ( CGTase, EC 2.4.1.19) is an enzyme capable of converting starch into CD molecules. In this work, the CGTase produced by Bacillus clausii strain E16 was used to produce CD from maltodextrin and different starches ( commercial soluble starch, corn, cassava, sweet potato, and waxy corn starches) as substrates. It was observed that the substrate sources influence the kind of CD obtained and that this CGTase displays a beta- CGTase action, presenting a better conversion of soluble starch at 1.0%, of which 80% was converted in CDs. The ratio of total CD produced was 0: 0.89: 0.11 for alpha/beta/gamma. It was also observed that root and tuber starches were more accessible to CGTase action than seed starch under the studied conditions.

Caracterização anatômica, química e antibacteriana de folhas de Brunfelsia uniflora (manacá) presentes na Mata Atlântica

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Efeito da adição de amido de milho ceroso em queijo Minas frescal com teor reduzido de gordura

Pós-graduação em Engenharia e Ciência de Alimentos - IBILCE

Utilização de carboidratos digestíveis em dietas para pacu, Piaractus mesopotamicus (Holmberg, 1887)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo das características estruturais de amidos: efeito do 'annealing', da hidrólise ácida e da hidrólise enzimática

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)