Posters

Category 'I'- Genetic Variation Analysis'
Poster - I01
Corynebacterium pseudotuberculosis may be under anagenesis and biovar equi is forming biovar ovis: a phylogenic inference from sequence and structural analysis

Alberto Oliveira Junior, University of Minas Gerais, Brazil
Vasco Azevedo University of Minas Gerais, Brazil
Pammella Teixeira, UFMG, Brazil
Marcela Azevedo, UFMG, Brazil
Syed Jamal, UFMG, Brazil
Sandeep Tiwari, UFMG, Brazil
Sintia Almeida, UFMG, Brazil
Elaine Dorneles, UFMG, Brazil
Dionei Haas, UFMG, Brazil
Marcos Heinemann, USP, Brazil
Andrey Lage, UFMG, Brazil
Debmalya Barh, IIOAB, India
Rafaela Ferreira, UFMG, Brazil
Vasco Azevedo, UFMG, Brazil
 
Short Abstract: None On File
 
Poster - I02
Identification of polymorphisms and mutations in the DNA sequence of patients deficient in DNA repair processes

Livia Maria Moura, University of São Paulo, Brazil
Carlos Frederico Menck, University of São Paulo, Brazil
Huma Asif, University of São Paulo, Brazil
Ligia Castro, University of São Paulo, Brazil
Veridiana Munford, University of São Paulo, Brazil
Karina Santiago, A. C. Camargo Cancer Center, Brazil
Maria Isabel Achatz, A. C. Camargo Cancer Center, Brazil
Pedro Galante, Hospital Sírio-Libanês, Brazil
 
Short Abstract: We identified five novel and one known mutations in XP patients after passing various filters (1000genomes, Hapmap). These mutations were found damaging after screening with SIFT and PROVEAN. Furthermore, we are in process of developing a user-friendly public domain interface that will facilitate the identification of mutations/polymorphisms in NGS data.
 
Poster - I03
Network-assisted analysis of allele frequency differentiation between ancestries for GWAS hits.

Gilderlanio de Araújo, Federal University of Minas Gerais, Brazil
Lucas Henrique C. Lima, UMFG, Brazil
Ana Paula Couto Silva, UFMG, Brazil
Pedro O. S . Vaz de Melo , UFMG, Brazil
Eduardo Tarazona-Santos, UFMG, Brazil
Maíra Ribeiro Rodrigues , UFMG, Brazil
 
Short Abstract: This work presents a network-assisted analysis of allelic frequency differentiation of risk variants identified by GWAS. It is aimed at integrating molecular profiles and genetic disease associations in a disease-ancestry network.
 
Poster - I04
Phylogenetic analysis of fimH in different Escherichia coli pathotypes

Leticia Matter, Universidade Federal de Santa Maria, Brazil
Luana Farias, Universidade Federal de Santa Maria, Brazil
Agueda de Vargas, Universidade Federal d Sata Maria, Brazil
 
Short Abstract: This study comprises the phylogenetic analysis of fimH in different Escherichia coli pathotypes. Type 1 fimbria is the most important structure involved in the interaction of extraintestinal pathogenic Escherichia coli with the host tissues and fimH is the gene responsible for the adhesin tip of type 1 fimbria.
 
Poster - I05
Mapping short reads may be harder in anomalous regions

Luciana Montera, Federal Unviersity of Mato Grosso do Sul, Brazil
Christiane Nishibe, Federal University of Mato Grosso do Sul, Brazil
Nalvo Almeida, Federal University of Mato Grosso do Sul, Brazil
Flábio Araújo, Embrapa, Brazil
Bárbara Cezar, Federal University of Mato Grosso do Sul, Brazil
 
Short Abstract: Next-generation sequencing make us able to sequence millions of reads in a single run. Mapping these reads to a reference genome is used in data analyses involving variant detections and gene expression. This work aims to evaluate short read mappers when dealing with anomalous regions, where DNA compositional biases are detected.
 
Poster - I06
Unraveling new mutations associated with Hereditary Breast and Ovarian Cancer (HBOC)

Jessica Plaça, Regional Blood Center of Ribeirão Preto, Brazil
Greice De Molfetta, University of Sao Paulo, Brazil
Kamila Perroni, University of Sao Paulo, Brazil
Vitor Ferraz, University of Sao Paulo, Brazil
Wilson Junior, University of Sao Paulo, Brazil
Nathália Cury, Estate University of Campinas, Brazil
 
Short Abstract: Applying exome sequencing genes have been discovered as associated with increased risk of cancers. Although pathogenic mutations have been correlated with HBOC, its phenotypic heterogeneity are not explained. This work found genes as, MUC4, HYDIN, TEKT4P2, MUC16 that could be related to the HBOC phenotype.
 
Poster - I07
Rol of smallRNA in the excystment of Fasciola hepatica metacercariae

Santiago Fontenla, Facultad de Medicina, Universidad de la República, Uruguay
Nicolás Dell'Oca, Facultad de Medicina, Universidad de la República, Uruguay
Pablo Smircich , Facultad de Medicina, Universidad de la República, Uruguay
Maria del Mar Siles, Instituto de Recursos Naturales y Agrobiología de Salamanca, Spain
José Tort, Facultad de Medicina, Universidad de la República, Uruguay
 
Short Abstract: Fasciola hepatica is responsibe for a worldwide distributed zoonosis. We studied microRNA expression in desencystment of, mammal infective, metarcercariae. Forty conserved miRNA families, as well as, fifteen novels were identified. Subtle differences between dormant and activated metacercariae were observed. Flatworm miRNA sequences are more divergent compared to other metazoans.
 
Poster - I08
Literature data-mining for selecting potential functional candidate genes for gonadal hypoplasia and sperm defects in X-chromosome regions associated with these phenotypes by GWAS

Ana Paiva, UFMG, Brazil
Marcos Vinícius Gualberto Barbosa da Silva, Embrapa, Brazil
Vicente Ribeiro do Valle Filho, UFMG, Brazil
Guilherme Corrêa de Oliveira , FIOCRUZ, Brazil
Guilherme Silva Moura, UFMG, Brazil
Pablo Augusto de Souza Fonseca, UFMG, Brazil
Daniel Jordan de Abreu Santos, Embrapa, Brazil
Fernanda Caroline dos Santos, UFMG, Brazil
Izinara da Cruz Rosse, UFMG, Brazil
 
Short Abstract: Literature data-mining for selecting potential functional candidate genes for gonadal hypoplasia and sperm defects in X-chromosome regions associated with these phenotypes by GWAS
Paiva, A.E¹; Fonseca, P.A.S2; Santos, F.C2; Moura, G.S; Santos, D.J³; Rosse, I.C²; Oliveira, G.C4; Andrade, V. J.¹, Vale-Filho, V. R¹; Silva, M. V. G. B³; Carvalho, M.R.S²
¹ Escola de Veterinária, Universidade Federal de Minas Gerais, Belo Horizonte, 31.270-901, Brazil
² Departamento de Biologia Geral, Universidade Federal de Minas Gerais, Belo Horizonte, 31.270-901, Brazil
³ Embrapa Gado de Leite, Juiz de Fora, 36038-330, Brazil
4 Centro de Pesquisas René Rachou (CPqRR) - FIOCRUZ, Belo Horizonte- MG, 30.190-002, Brazil
BACKGROUND: Genome-Wide Association Studies (GWAS) have been performed for several complex traits. Through this methodology it is possible to identify many markers and chromosome regions associated with the evaluated phenotype. However, despite the identification of these regions, GWAS may not find the causal variant of the assessed phenotype. This can be explained by the fact that the marker present in the genotyping platform used in the study is in linkage disequilibrium with the real causal variant. Therefore, further studies in candidate regions must be conducted in order to ascertain the real causal variants. As linkage disequilibrium can extend by long stretches in the genome, a large list of positional candidate genes can be obtained to be analyzed to search for causal variations. This way, the data mining methodologies stand out as a good alternative to select the best potential candidate genes. Here, we show the results of the literature data mining for candidate genes present in 3 candidate regions of X-chromosome associated by GWAS with gonadal hypoplasia and sperm defects in the Gir breed. The Gene Relationships Across Implicated Loci (GRAIL) software was used to perform the literature data mining. The input file for GRAIL analyzes was made using the gene name in Bos Taurus and the Gene ID of the homologous gene in human genome (all this data was extracted from NCBI). As thresholds of search, only articles published until August of 2012 were used. A supplementary search in more recent articles was developed for complementing the information of the genes significantly associated by GRAIL.
RESULTS: Initially, the input file consisted for 97 genes. After the analyses, we were able to select seven genes. The keywords found significantly associated with the genes in GRAIL analyses were “Testis” and “Male”. These results must be associated with the pattern of expression or performance of these genes in males and in sex related biological processes. The complementary search in the literature showed that these genes encode for essential proteins in gonadal cell functions like mitosis, meiosis, sperm development and compartmentalization of the sperm cell.
CONCLUSION: The strategy used in the present study was able to identify seven genes from a list of 97 genes previously associated with sperm and testis development process by GWAS. This methodology showed to be useful for selecting candidate genes from a large list of positional candidates found in GWAS.
 
Poster - I09
Data-mining for selecting potential functional candidate genes for temperament of Guzerá cattle in a region of chromosome 1 identified by GWAS

Carolina Matosinho, Universidade Federal de Minas Gerais, Brazil
Fernanda Santos, Universidade Federal de Minas Gerais, Brazil
Pablo Fonseca, Universidade Federal de Minas Gerais, Brazil
Izinara Rosse, Universidade Federal de Minas Gerais, Brazil
Maria Carvalho, Universidade Federal de Minas Gerais, Brazil
Maria Pires, Embrapa Gado de Leite, Brazil
Frank Bruneli, Embrapa Gado de Leite, Brazil
Glaucyana Santos, Embrapa Gado de Leite, Brazil
Maria Peixoto, Embrapa Gado de Leite, Brazil
 
Short Abstract: Zebu breeds was known popularly as “brave” breeds, due to having more aggressive temperament. The bovine temperament is an important characteristic in the animal’s well-being, and it affects the animals productivity.
 
Poster - I11
Potentially Amplifiable Loci selection for polymorphic microsatellite markers generated from high-throughput DNA sequencing

Gabriel Yazbeck, Universidade Federal de São João del-Rei, Brazil
Rafael Sachetto Oliveira, Universidade Federal de São João del-Rei, Brazil
José Mauro Ribeiro, Universidade Federal de São João del-Rei, Brazil
Priscila Maria Freitas Viana, Universidade Federal de São João del-Rei, Brazil
Fausto Moreira da Silva Carmo, Universidade Federal de São João del-Rei, Brazil
Milene Barbosa Carvalho, Universidade Federal de São João del-Rei, Brazil
 
Short Abstract: Microsatellite DNA markers development was dramatically favoured with the advent of Next-Generation Sequencing techniques. We report the use of in silico selection for maximizing the chance of finding polymorphic microsatellite loci in a panel of tens of thousands of pontentially amplifiable loci generated by NGS (HiSeq 2000) for Neotropical fish.
 
Poster - I12
A relational database for the investigation of functional SNPs from the 1000 Genomes Project

Sérgio de Alencar, Universidade Católica de Brasília, Brazil
Leonardo Fialho, Universidade Católica de Brasília, Brazil
Gabriel Fernandes, Universidade Católica de Brasília, Brazil
 
Short Abstract: The rapid progress in high-throughput sequencing platforms has led to a huge increase in SNP discovery. Using dbSNP accession numbers as common identifiers, our database integrates information from several databases relevant to SNP functional studies, including OMIM, Ensembl, GeneCards, GWASdb and the 1000 Genomes Project.
 
Poster - I13
Three SNPs identified by GWAS contribute significantly to reactivity in the Guzerá breed

Fernanda Caroline dos Santos, Universidade Federal de Minas Gerais, Brazil
Pablo Augusto de Souza Fonseca, Universidade Federal de Minas Gerais, Brazil
Maria de Fátima Ávila Pires, EMBRAPA Gado de Leite, Brazil
Izinara da Cruz Rosse, Universidade Federal de Minas Gerais, Brazil
Frank Angelo Tomita Bruneli, Embrapa Gado de Leite, Brazil
Glaucyana Gouvêa Santos, Embrapa Gado de Leite, Brazil
Maria Raquel dos Santos Carvalho, Universidade Federal de Minas Gerais, Brazil
Maria Gabriela Campolina Diniz Peixoto, Embrapa Gado de Leite, Brazil
 
Short Abstract: BACKGROUND: Bovine behavior is defined by the reactions that an animal presents when in contact with humans or other environmental challenges. It is composed of many endophenotypes. Among them, the most studied is the temperament which involves aggression, reactivity, passivity, physical movements, persistent habits, emotions, alertness and even curiosity. Temperament is a fundamental trait, because it reflects the fear felt by an animal while it is in human presence. Consequently, it influences directly on the animal-cowman relationship. When compared to calm animals, the angry ones exhibit lower weight gain, lower reproductive efficiency and lower milk production. Additionally, these animals produce meet of lower quality, are more susceptible to some diseases and are more frequently involved in work accidents. Therefore, ill-tempered animals increase the costs of herd maintenance and lead to losses of productivity. The definition of temperament is broad and subjective, leading to difficulties in its evaluation. Consequently, most of the studies, divide it in less complex components or endophenotypes, which can be evaluated quantitatively. Despite this, few studies on the genetics of temperament showed concordant results to date, partially due to the subjectivity of the behavior scoring resources. Reactivity can be less subjectively measured with devices such as REATEST®, which captures electronically the movements of the animal in a mobile cage for 20 seconds and attributes a score to it. This score reflects the intensity and the number of movements produced by the animal once catch in the mobile cage.
Here, we describe the results of a genome-wide association study (GWAS) for reactivity, as assessed with Reatest, in a sample of 794 cows of the Guzerá breed, using reactivity data collected in 5 farms in Brazil. Measures of reactivity were taken in the rainy and dry seasons. The Generalized Linear Model (GLM) was used to extract effects of age, herd, weight and physiological status. The genotypes were obtained using the BovineSNP50 v2 DNA Analysis BeadChip. Association tests and quality control were performed using the SNP & Variation Suite software V7 Power Seat.
RESULTS: Three SNPs were significantly associated to reactivity in Guzerá with highly significant P-values even after Bonferroni correction. P-values ranging from -log(p) 6.1 to 6.99 were obtained. Each one of the three associated SNPs explained almost 4.5% of the variance of the characteristic. One of these SNPs is located on BTA1 and the other two are located on BTA25.
CONCLUSIONS: The identification of variants associated to reactivity may yield valuable information for understanding the biology behind this trait in bovine breeds. Given the importance of temperament for animal production systems using indicine breeds, generally assumed as ill-tempered animals, the lack of studies in the area, and the importance of the Guzerá breed for milk production systems in Brazil, these results stand out as an important contribution for bovine temperament research in Brazil.
 

Posters

Poster Presentation List & Schedule

Odd numbers:
Poster set up: Day 1 - all day long
Take down: Day 2 after Poster Session
Size: Up to 90cm width x 120 cm height

Even Numbers:
Poster set up: Day 2 after Poster session and Day 3 until the first coffee break
Take Down: Day 3 after Poster Session
Size: Up to 90cm width x 120 cm height