Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ∼139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS. © 2012 Macmillan Publishers Limited All rights reserved.

Division of labor in pachycondyla striata Fr. Smith, 1858 (Hymenoptera: Formicidae: Ponerinae)

Four colonies of the ant Pachycondyla striata were used to analyze the specie behavioral repertoire. Forty-six behavioral acts were recorded in laboratory. Here, we present the record the division of labor between the castes and the temporal polyethism of monomorphic workers. The queens carried out many of the behavioral traits recorded in this work however; they performed them less frequently compared to the worker. The workers activity involved chasing and feeding on fresh insects and usingthem to nourish larvae besides laying eggs in the C-posture, an activity also performed by queens, which is similar to that of wasps of the subfamily Stenogastrinae. The young workers were involved in activities of brood care, sexuate care, and nest maintenance, and the older workers were involved in defense, exploration, and foraging. © 2012 Adolfo da Silva-Melo and Edilberto Giannotti.

Intraspecific and intracolonial variation in the profile of venom alkaloids and cuticular hydrocarbons of the fire ant Solenopsis saevissima smith (Hymenoptera: Formicidae)

Fire ants are aggressive Neotropical ants that are extensively similar in general biology and morphology, making species identification difficult. Some fire ant species are top-rated pests spreading throughout the world by trade vessels. Many researchers attempted to sort between invasive and native species by using chemical characters, including patterns of venom alkaloids. The present study is the first to report intraspecific variation in some chemical characters, namely, cuticular hydrocarbons and venom alkaloids, within the Brazilian fire ant species Solenopsis saevissima and also reports on within-nest variations among members of different castes. Two different haplotypes (cryptic species) of S. saevissima were clearly identified, one presenting a predominant combination of the venom alkaloids cis- and trans-2-methyl-6-undecylpiperidine with the cuticular hydrocarbons C23, 3-Me-C23, 10-C 25:1, C25, and 3-Me-C25, and the other a predominant combination of cis- and trans-2-methyl-6-tridecenylpiperidine with predominance of 12-C25:1, C25, 11-Me-C25, 3-Me-C25, 13-C27:1, C27, and 13-Me-C 27. Intranest variations revealed that the proportions among these compounds varied sensibly among workers of different sizes, gynes, and males (no alkaloids were detected in the latter). Larva contained vestiges of the same compounds. The recorded chemical profiles are quite different from previous reports with S. saevissima samples from So Paulo. The finds thus support other recent claims that S. saevissima includes cryptic species; the study, moreover, adds the find that they can occur in the same geographical location. © 2012 Eduardo Gonalves Paterson Fox et al.

La población y el desarrollo en el pensamiento de A. Smith y R.T. Malthus

Documento Docente - Programa Global de Formación en Población y Desarrollo

Sistemática molecular de Atta laevigata (Smith 1858) e Acromyrmex balzani (Emery 1890)

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

Efeitos da interação e toxicidade das proteínas Cry1 e Vip3Aa de Bacillus thuringiensis, Berliner em Spodoptera frugiperda (J. E. Smith) (Lepidoptera: Noctuidae)

Pós-graduação em Microbiologia Agropecuária - FCAV

Dinâmica populacional do siri azul Callinectes danae Smith, 1869 (Crustacea, Decapoda, Portunoidea) na região de Ubatuba, SP, Brasil

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Dinâmica dos fatores de mortalidade de Spodoptera frugiperda (J. E. Smith) (Lepidoptera: Noctuidae) em milho com e sem liberação de Telenomus remus Nixon (Hymenoptera: Platygastridae)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Bioecologia comparada de duas linhagens de Telenomus remus Nixon (Hymenoptera: Platygastridae) parasitando ovos de Spodoptera frugiperda (J. E. Smith) (Lepidoptera: Noctuidae)

Pós-graduação em Agronomia (Entomologia Agrícola) - FCAV

Fatores naturais e Telenomus remus Nixon (Hymenoptera: Scelionidae) na mortalidade de Spodoptera frugiperda (J. E. Smith) (Lepidoptera: Noctuidae) em milho

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Estudo citogenético da região 17p11.2: a síndrome de Smith-Magenis

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Helmintos gastrintestinais de Cerdocyon thous (Linnaeus, 1766) Smith, 1839 provenientes da área de caatinga do estado da Paraíba, Brasil

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

Análise da expressão gênica em isolados de Bacillus thuringiensis por PCR tempo real visando o controle de Spodoptera frugiperda (J.E. Smith) (Lepidoptera: Noctuidae) de diferentes populações brasileiras

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

Biologia de Spodoptera frugiperda (J. E. Smith, 1797) (Lepidoptera: Noctuidae) exposta a inseticidas durante a fase larval

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)