The History and geography of the Y chromosome SNPs in Europe: an update

The knowledge of the evolution of the human genome is strictly dependent on the availability of appropriate genetic markers and their relative coverage of genetic variation which refine the phylogenetic reconstruction. While autosomal markers are particularly valuable for recognizing correspondence between genetic and geographic distances, markers on mitochondrial DNA (mtDNA) or Non Recombining Portion of Y Chromosome (NRY), because of their unilinear transmission, can effectively trace diachronical patterns of the human peopling. The maximum extent of polymorphism coverage has already been reached for the very small mitochondrial genome (about 16,5 Kbp), whereas the first studies based on RFLPs (Restriction Fragment Length Polymorphisms) (Cann et al., 1987) and on sequencing of the hypervariable regions (Vigliant et al., 1991), were then combined to get higher resolution (Torroni et al., 1996), and finally the complete genome sequencing is now routinely performed (Achilli et al., 2004, Pala et al., 2009), in order to detect the whole mtDNA variation. A similar approach cannot be used yet at population level for the by far larger nuclear genome. However, advances in genotyping technology have dramatically enhanced the resolution of the analysis at genome-wide level, and recent papers significantly improved the knowledge of the relationships among European populations, using 300 to 500 K SNPs (Single Nucleotide Polymorphisms) on microarrays chips (Tian et al., 2008; Novembre et al., 2008). As to the NRY, most of the studies before the year 2000 were performed using Alu insertion (Hammer, 1995) or STRs (Short Tandem Repeats) (De Knijff et al., 1997; Pritchard et al., 1999) with the known limitations due to recurrence and reversion of this kind of polymorphisms. Using D-HPLC (Denaturing High Performance Liquid Chromatography) technology, Underhill and coworkers (1997) discovered 22 new SNP biallelic markers, rapidly raising in number to 167 (Underhill et al., 2000), 242 (YCC, 2002), about 600 (Karafet et al., 2008), up to more than 725 presently listed in the Y-DNA SNP Index 2009, (www.isogg. org), and the knowledge of Y chromosome phylogeny and of the spread worldwide of human populations raised proportionally. The next goal of the research on Y chromosome will be the use of specific microarrays that can genotype a much higher number of SNPs than nowadays routinely performed, and, ultimately, the complete Y chromosome sequencing. Waiting for future developments, this short note reports the state of the art of the phylogenetic (“history”) and phylogeographic (“geography”) research on Y chromosome SNP analyses in Europe, updating the review published in this Journal by Francalacci & Sanna at the beginning of 2008

Mitochondrial DNA lineages of Italian Giara and Sarcidano horses

Giara and Sarcidano are 2 of the 15 extant native Italian horse breeds with limited dispersal capability that originated from a larger number of individuals. The 2 breeds live in two distinct isolated locations on the island of Sardinia. To determine the genetic structure and evolutionary history of these 2 Sardinian breeds, the first hypervariable segment of the mitochondrial DNA (mtDNA) was sequenced and analyzed in 40 Giara and Sarcidano horses and compared with publicly available mtDNA data from 43 Old World breeds. Four different analyses, including genetic distance, analysis of molecular variance, haplotype sharing, and clustering methods, were used to study the genetic relationships between the Sardinian and other horse breeds. The analyses yielded similar results, and the FST values indicated that a high percentage of the total genetic variation was explained by between-breed differences. Consistent with their distinct phenotypes and geographic isolation, the two Sardinian breeds were shown to consist of 2 distinct gene pools that had no gene flow between them. Giara horses were clearly separated from the other breeds examined and showed traces of ancient separation from horses of other breeds that share the same mitochondrial lineage. On the other hand, the data from the Sarcidano horses fit well with variation among breeds from the Iberian Peninsula and North-West Europe: genetic relationships among Sarcidano and the other breeds are consistent with the documented history of this breed

Genetic affinities within a large global collection of pathogenic <i>Leptospira</i>: implications for strain identification and molecular epidemiology

Leptospirosis is an important zoonosis with widespread human health implications. The non-availability of accurate identification methods for the individualization of different Leptospira for outbreak investigations poses bountiful problems in the disease control arena. We harnessed fluorescent amplified fragment length polymorphism analysis (FAFLP) for Leptospira and investigated its utility in establishing genetic relationships among 271 isolates in the context of species level assignments of our global collection of isolates and strains obtained from a diverse array of hosts. In addition, this method was compared to an in-house multilocus sequence typing (MLST) method based on polymorphisms in three housekeeping genes, the rrs locus and two envelope proteins. Phylogenetic relationships were deduced based on bifurcating Neighbor-joining trees as well as median joining network analyses integrating both the FAFLP data and MLST based haplotypes. The phylogenetic relationships were also reproduced through Bayesian analysis of the multilocus sequence polymorphisms. We found FAFLP to be an important method for outbreak investigation and for clustering of isolates based on their geographical descent rather than by genome species types. The FAFLP method was, however, not able to convey much taxonomical utility sufficient to replace the highly tedious serotyping procedures in vogue. MLST, on the other hand, was found to be highly robust and efficient in identifying ancestral relationships and segregating the outbreak associated strains or otherwise according to their genome species status and, therefore, could unambiguously be applied for investigating phylogenetics of Leptospira in the context of taxonomy as well as gene flow. For instance, MLST was more efficient, as compared to FAFLP method, in clustering strains from the Andaman island of India, with their counterparts from mainland India and Sri Lanka, implying that such strains share genetic relationships and that leptospiral strains might be frequently circulating between the islands and the mainland

Una nuova preparazione farmaceutica di GNRH impiegata nell'allevamento suino

In questo lavoro abbiamo caratterizzato i principi generali del GnRH (Gonadotropin-Releasing Hormone), un decapeptide sintetizzato da specifiche cellule neurosecretrici dell’ipotalamo che viene riversato in maniera pulsatile direttamente nei capillari del sistema portale ipotalamo-ipofisario e condotto all’ipofisi anteriore. Sono state descritte le sue isoforme ed il suo meccanismo d’azione. Il GnRH si lega a specifici recettori della famiglia delle proteine G rodopsino-simili posti sulla superficie delle cellule gonadotrope, attivando una serie di meccanismi intracellulari, il cui esito finale è la biosintesi e la secrezione delle gonadotropine ipofisarie: l’ormone follicolo stimolante (FSH) e l’ormone luteinizzante (LH o ICSH). Il GnRH svolge un ruolo centrale nella fisiologia riproduttiva dei mammiferi essendo il regolatore chiave delle funzioni riproduttive. Vengono decritti alcuni analoghi di sintesi ad attività agonista ed antagonista che vengono utilizzati sia nella pratica clinica veterinaria che in medicina umana. Infine viene descritto un nuovo preparato: un vaccino contro l’odore di verro a base di un analogo incompleto di sintesi del GnRH naturale (Improvac®), il quale, ponendosi come valida alternativa alla castrazione fisica precoce dei suinetti, soddisfa le recenti norme dell’UE in fatto di rispetto del benessere animal

Limites do planejamento estratégico aplicado ao espaço urbano como instrumento de desenvolvimento sustentável: o caso do Sapiens Parque

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-graduação em Urbanismo, História e Arquitetura da CidadeO conjunto de processos e agentes externos de uma cidade sempre resulta em influenciar a sua evolução urbana. A globalização fortifica a velocidade com que ocorrem essas mudanças externas, cujas inovações tecnológicas e alterações econômicas, políticas e socioculturais trazem implicações no processo construtivo das cidades. O espaço urbano é transformado em um capital comum para toda a humanidade e ganha novas funções, dando origem ao ambiente competitivo entre as cidades e refletindo suas modificações no planejamento. As cidades passam a constituir centros de articulação e controle de economias regionais, nacionais e internacionais, a partir de vocações e especializações urbanas. As ações estratégicas em âmbito urbano, definidas dentro da lógica do mercado, caracterizam o novo modelo de planejamento a ser adotado frente aos desafios impostos pela globalização. Por outro lado, a problemática ambiental global surgida no século XX determinou um novo paradigma de desenvolvimento, que apresenta como diretriz a integração das relações humanas com o ambiente natural. O conceito de desenvolvimento sustentável compreende uma alternativa às teorias e modelos tradicionais de desenvolvimento, e marca uma nova filosofia que combina eficiência econômica com justiça social e prudência ecológica. Este trabalho estabelece uma relação entre o paradigma do desenvolvimento sustentável e o atual modelo de planejamento urbano estratégico. Para tanto, faz uma avaliação da eficiência do modelo de planejamento urbano como instrumento de desenvolvimento sustentável, segundo os conceitos e critérios de sustentabilidade. A análise baseia-se no estudo de caso do empreendimento Sapiens Parque, para Florianópolis. Tal empreendimento caracteriza-se como um programa de desenvolvimento regional, baseado na produção científica e tecnológica, e que visa a sustentabilidade social, econômica e ambiental. A pesquisa aponta os limites deste projeto no alcance do desenvolvimento sustentável regional, através do levantamento dos seus impactos em meio físico, biótico e sócio-econômico, permitindo identificar em quais aspectos o modelo de planejamento urbano adotado contraria os conceitos de sustentabilidade estudados. The set of processes and external agents of a city always results in influencing its urban evolution. The globalization increases the velocity in which these external changes take place and changes the space into a common capital to the humanity, bringing its implications to the cities' constructive process. The urban space has new functions, creating a competitive environment between cities and reflecting in modifications in the urban planning. Through urban vocations and specializations, the cities start to constitute articulation and control centers of regional, national and international economy. The strategic actions in the urban field, defined according to the market logic, characterize the new planning model to be adopted facing the challenges imposed by the globalization. On the other hand, the global environmental problem that appeared in 20th century determined a new development paradigm, that presents as a direction line the integration between human relations and natural environment. The concept of sustainable development comes as an alternative to the theories and traditional models of development, and marks a new philosophy that combines economic efficiency with social justice and ecological prudence. This thesis establishes an interaction between the paradigm of the sustainable development and the current model of strategic urban planning. In order to achieve that, an efficiency evaluation of the urban planning model as a tool of sustainable development is made, according to the concepts and the criteria of sustainability. The analysis is based an enterprise Sapiens Park study of case, in Florianópolis. Such enterprise is characterized as a regional development program, based on the scientific and technological production, and it aims at the social, economic and environmental sustainability. The research points the limits of this project while trying to reach the regional sustainable development, through the survey of its impacts in the physic, biotic and socio-economic environment, allowing the identification of which aspects the urban planning model current adopted opposes the concepts of sustainability studied

Proteção de software por certificação digital

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Computação.Este trabalho é uma proposta para um combate mais eficaz contra cópias não autorizadas de programas de computador. É um estudo sobre infra-estrutura de chave pública com base na recomendação internacional X.509v3 e sua possível aplicabilidade para proteção de software usando a certificação digital. O propósito é condicionar o registro do software ao certificado digital do usuário. Se este mesmo usuário quiser fazer uma cópia pirata e distribuí-la, necessitaria fornecer, junto com a cópia, o seu certificado e sua chave privada, o que poderia trazer inúmeras complicações para ele. O modelo oferece também, vantagens ao produtor de software como: a) revogação do certificado que ativa as cópias ilegais; b) baseado no não repúdio o produtor pode processar os usuários que quebraram o termo de contrato; c) personaliza o software baseado nas informações contidas no certificad

Metodi topografici per la ricostruzione dettagliata della piezometria nelle aree costiere: il caso del Parco Regionale della Maremma (Toscana meridionale)

Una metodologia topografica è stata messa a punto all'interno del Parco Regionale della Maremma (Grosseto) con l’obbiettivo di conseguire una determinazione dei dati plano-altimetrici della locale rete di monitoraggio piezometrico tale da assicurare un’elevata accuratezza nella ricostruzione della rete di flusso ed una sufficiente velocità di esecuzione in modo da garantirne la sostenibilità di tempi e costi. I rilievi effettuati tramite strumentazione GNSS e livellazione geometrica “dal mezzo” hanno consentito un significativo miglioramento delle conoscenze sull'idrodinamica della falda ed in particolare sui lo-cali fenomeni di intrusione marina. La procedura proposta è da ritenersi pertanto conveniente in tutte le applicazioni idrogeologiche delle zone costiere caratterizzate dalla concomitanza tra un basso gradiente idraulico ed una significativa variazione della quota altimetrica, tipica casistica geomorfologica dei litorali italiani

Comparison of leucine-rich alpha-2-glycoprotein-1 (LRG-1) plasma levels between patients with and without appendicitis, a case–controlled study

Acute appendicitis (AA) is the frst cause of emergency surgery. Leucine-Rich Alpha-2-Glycoprotein 1 (LRG1) has been shown to be a potential biomarker in cases of AA in children, but there are conficting results for its use in adults. The objective of this study is to compare the median plasma values of LRG1 in patients with acute abdomen with and without appendicitis. This case–control study was conducted prospectively at the emergency room (ER) of a tertiary teaching hospital, between March 1st, 2011 and December 31st, 2012. Patients with recent abdominal pain, aged 18–70 years who attended at the ER were included in the study. Blood samples were drawn at the frst presentation. Those who were submitted to surgery and had a pathology report of AA were considered as cases. Those without a need for surgery and treated for other conditions, e.g., pelvic infammatory disease, were considered as controls. Follow-up in controls was made up to 30 days. LRG1 plasma median values were measured using an ELISA kit and compared between groups. A total of 28 participants, 14 cases with acute appendicitis and 14 controls, were included. The median (range) values of leucine-rich alpha-2-glycoprotein-1 level in the group with appendicitis and control group were 8.8 ng/ml (5.5–31) and 11 (4.6–108) ng/ml, respectively (Mann–Whitney test P= 0.26). Median plasma leucine-rich alpha-2-glycoprotein-1 levels were not useful in diagnosing Acute Appendicitis in patients with acute abdominal pain