Two-Way Selection for Daily Gain and Feed Conversion in a Composite Rabbit Population

We conducted a two-way selection experiment in a composite rabbit population to investigate the responses to selection for postweaning ADG and feed conversion (FC). Two generations of crossing, followed by four generations of random pair matings, preceded three generations of selection. Selection was practiced within four lines: high-feed conversion (HFC), low-feed conversion (LFC), high gain (HG), and low gain (LG). Data on 1,446 rabbits from the random mating and selection generations were fitted to an animal model to estimate heritabilities of and the genetic correlation between ADG and FC. The two-trait model included rabbit and common litter random effects and line, generation, and sex fixed effects. Estimates of heritability of ADG and FC were .48 and .29, respectively, and the genetic correlation between them was -.82. Common litter environmental effects accounted for a proportion of .11 and . 13 of the phenotypic variation of the two traits, respectively. For ADG (in g/d) the regressions of mean breeding values on generation number during the selection period were 1.23 ± .12 (P < .01) in the HG line and -.86 ± .12 (P < .01) in the LG line; the regressions for FC (in g feed/g gain) were -.07 ± .01 (P < .01) in the HFC line and .03 ± .01 (P < .05) in the LFC line. Selection for ADG was effective in improving ADG and FC.

Population genetic data of five X-chromosomal loci in Bauru (São Paulo, Brazil)

Genetic population data for five X-STR (DXS6854, DXS7424, DXS101, DXS6808 and DXS7132) were obtained from Bauru population (São Paulo, Brazil). No deviations from the Hardy-Weinberg equilibrium were observed, with the exception of DXS101. The combined powers of discrimination in males and females were 0.99897253 and 0.99999120, respectively. These high values show the potential of this system in human identification and paternity testing. © 2008 Elsevier B.V. All rights reserved.

Genetic data of 10 X-chromosomal loci in Vitória population (Espírito Santo State, Brazil)

Genetic population data for 10 X-STR (DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902 and DXS6789) were obtained from Vitória population (Espírito Santo State, Brazil). No deviations from the Hardy-Weinberg equilibrium and linkage disequilibrium were observed. The combined powers of discrimination in males and females were 0.9999995 and 0.99999999996, respectively. These high values show the potential of this system in human identification in Vitória population, Brazil. © 2009 Elsevier B.V. All rights reserved.

Influence of δβ-thalassemia or regulatory elements in individuals with increased fetal Hb levels in the São Paulo northwest population

Fetal hemoglobin (Hb F), formed by two alpha globin chains (α) and two gamma chains (γ) (α2 γ2), has reduced expression in adults, ranging from 0 to 1% of total hemoglobin. Increased levels of Hb F are due to mutations in the β-globin family, which cause hereditary persistence of fetal hemoglobin (HPFH) and delta-beta thalassemia (δβ-thalassemia).The control of the production takes place by the regulatory region and regions outside the β-globin family, among them 2q16, 6q23, 8q, and Xp22.2.The aims of this study were to determine the presence and frequency of two mutations for δβ-thalassemia, the XmnI polymorphism and β-globin haplotypes in healthy individuals with increased Hb F in the State of São Paulo. We analyzed 60 samples of peripheral blood of healthy adults, without complaints of anemia. The samples were separated into two groups according to Hb F level: group I - 34 samples with Hb F ranging from 2 to 15% and group II - 26 samples with Hb F over 15%. In relation to the polymorphisms examined, we found three heterozygous individuals (5%) for Spanish δβ-thalassemia, belonging to group I, whose Hb F levels were within the normal range.The Sicilian δβ-thalassemia mutation was not found, indicating the need to study other polymorphisms related to the increase of Hb F in adult life.The frequency of XmnI polymorphism was 33.3% and the mean Hb F levels were 15.48 ± 11.69%.The frequency observed in our study for this polymorphic site is higher than that found in the literature for healthy subjects.This polymorphism was more prevalent in individuals with Hb F levels below 15%. For four samples positive for this polymorphism, the Hb F levels were explained by the presence of HPFH and Spanish δβ-thalassemia mutations, so that the presence of the XmnI polymorphic site was not a determinant in the overexpression of γ-globin genes. Regarding β-globin haplotypes, 18 alleles and 27 distinct genotypic patterns were found.The pattern Atp1/Atp2 was the mostfrequent genotype (13.72%).Of the 18 alleles, 13 showed atypical patterns.The results show that the haplotype V was the most frequent (27.45%), followed by atypical Atp2 (13.72%) and Atp1 (11.76%), and that there was a higher correlation with the presence of HPFH and XmnI polymorphism.The high frequency of haplotype V in our samples and high frequency of atypical haplotypes may reflect a high rate of miscegenation in this population, suggesting an ethnic characteristic for the Brazilian population, requiring the evaluation of population genetic markers to corroborate this hypothesis. © FUNPEC-RP.

A precautionary tale when describing species in a world of invaders: Morphology, coloration and genetics demonstrate that Lysmata rauli is not a new species endemic to Brazil but a junior synonym of the Indo-Pacific L. vittata

The objective of this study was to investigate morphological variation in traits of systematic relevance and the phylogenetic position, ecology, and reproductive biology of the shrimp Lysmata rauli Laubenheimer and Rhyne, 2010 (Caridea: Hippolytidae), described based only on a single specimen collected in Salvador, Bahia, Brazil. We analyzed a total of 89 specimens from Camamu Bay, Bahia (n = 88) and from S3o Vicente estuary, São Paulo (n = 1). Considerable morphological variation was detected in the rostral spine series, number of segments on the carpus and merus of pereiopod 2, number of spiniform setae on the ventrolateral margin of merus and on the ventral margin of propodus of pereiopods 3-5. Importantly, L rauli can be distinguished neither using morphology, nor coloration from the Indo-Pacific L. vittata (Stimpson, 1860). Furthermore, molecular phylogenetic analyses (using the 16S mt DNA fragment) did not reveal any considerable genetic dissimilarities between L rauli and L vittata. Thus, our results clearly indicate that L rauli is not a new species but a junior synonym of L vittata. The high density observed within the structures of oyster farming indicates that the invasive L vittata lives in crowds in Brazil. The studied population was composed of males, hermaphrodites, and transitional individuals (having characteristics of males and hermaphrodites). The above information suggests that L rauli is a protandric simultaneous hermaphrodite, as it has been observed in all species of Lysmata that have been investigated. Lysmata vittata has invaded the southwestern Atlantic and is present in Bahia, Rio de Janeiro and S3o Paulo, Brazil. © The Crustacean Society, 2013. Published by Brill NV, Leiden.

Diversity and genetic population structure of the Brazilian sharpnose shark Rhizoprionodon lalandii

Similar to many small, range-restricted elasmobranchs, the Brazilian sharpnose shark (Rhizoprionodon lalandii) is listed as 'data deficient' by the International Union for the Conservation of Nature (IUCN). Data on stock assessment and sustainability are scarce, and there is no information on population structure. This constitutes a management problem because this shark comprises approximately 50% of the catch of small coastal sharks in Brazil. In this study, populations of R. lalandii distributed from the Caribbean to southern Brazil were investigated using sequences from the mitochondrial DNA control region. Analysis of molecular variance revealed strong structuring between population samples from the Caribbean and those from the Brazilian coast (F{cyrillic}ST=0.254, P<0.0001). Significant differences in the rates of genetic diversity between these major areas were also detected. The observed levels of population structuring are likely to be driven by female phylopatry. Therefore, the identification of both mating and nursery areas with parallel ban/restriction of fishing in these areas may be critical for the long-term sustainability of these populations. © 2013 John Wiley & Sons, Ltd.

Genetic characterization of the population of São Luís, MA, Brazil

Five loci (vWA1, F13A1, D12S67, Apo-B and D1S80) were investigated by polyacrylamide gel electrophoresis followed by silver staining in a sample of 177 individuals from the population of São Luís, State of Maranhão, Brazil. A total of 70 different alleles were identified. A statistically significant deviation from the Hardy-Weinberg equilibrium was observed in a single locus (F13A1, p = 0.0075). The average heterozygosity (H) was estimated at 77.7%, the mean number of alleles per locus as 14. The PD (capacity of genotype differentiation at each locus) ranged from 88.9% (vWA1) to 96.7% (F13A1). The combined PE (power of exclusion) of these five loci was 99.8%. In terms of racial admixture (42% European, 39% Indian, and 19% African Black ancestry), São Luís presented an estimate similar to Belém, another trihybrid Amazonian population.

Inclusion of South American samples reveals new population structuring of the blacktip shark (Carcharhinus limbatus) in the western Atlantic

ABSTRACT: Carcharhinus limbatus has a cosmopolitan distribution and marked genetic structuring, mainly because of its philopatric behavior. However, analysis of this structuring has not previously included South American populations. In the present study, we analyzed a sample of adult individuals collected on the northern coast of Brazil and compared the sequences of the mitochondrial control region with those of populations already genotyped. Relatively high haplotype diversity (12 haplotypes, genetic diversity of 0.796) was observed, similar to that in other populations but with a much larger number of private alleles. In contrast to populations studied previously, which were represented by neonates, the pronounced allelic variability found in the South American individuals may have resulted from migrations from other populations in the region that have yet to be genotyped. This population was also genetically distinct from the other Atlantic populations (Fst > 0.8), probably because of female philopatry, and apparently separated from the northwestern Atlantic group 1.39 million years ago. These findings indicate that the C. limbatus population from northern Brazil is genetically distinct from all other populations and should be considered as a different management unit for the protection of stocks.

Origin of the hemoglobin S gene in a northern Brazilian population: the combined effects of slave trade and internal migrations

Com o objetivo de investigar a origem da mutação bS na população da região norte do Brasil, foram analisados polimorfismos de DNA no complexo de genes b da hemoglobina em 30 pacientes com anemia falciforme na população de Belém, a capital do Estado do Pará. Sessenta e sete por cento dos cromossomos bS analisados apresentaram o haplótipo Bantu, 30% o haplótipo Benin e 3% o haplótipo Senegal. A origem da mutação bS na população de Belém, estimada de acordo com a distribuição de haplótipos, não está de acordo com a esperada com base em dados históricos sobre o tráfico de escravos para a região norte, os quais indicam uma reduzida contribuição de escravos da região do Benin. Essas diferenças podem ser atribuídas ao tráfico interno de escravos, bem como ao posterior fluxo de populações imigrantes, particularmente de nordestinos. A distribuição de haplótipos em Belém não difere significativamente da observada em outras regiões brasileiras, muito embora os dados históricos sugiram que a maioria dos escravos procedentes da região do Atlântico-Oeste africano, onde predomina o haplótipo Senegal, foi trazida para o norte do Brasil, enquanto que o nordeste (Bahia, Pernambuco e Maranhão) recebeu o maior contingente de escravos oriundos da região centro-oeste africana, onde o haplótipo Benin é o mais comum. Nós sugerimos que as diferenças regionais quanto à procedência dos escravos africanos também foram modificadas pelo tráfico de escravos estabelecido entre as diferentes regiões brasileiras e posteriormente pelos movimentos migratórios.

Epigenetic alterations in human brain tumors in a Brazilian population

Aberrant methylation of CpG islands located in promoter regions represents one of the major mechanisms for silencing cancer-related genes in tumor cells. We determined the frequency of aberrant CpG island methylation for several tumor-associated genes: DAPK, MGMT, p14^ARF, p16^INK4a, TP73, RB1 and TIMP-3 in 55 brain tumors, consisting of 26 neuroepithelial tumors, 6 peripheral nerve tumors, 13 meningeal tumors and 10 metastatic brain tumors. Aberrant methylation of at least one of the seven genes studied was detected in 83.6% of the cases. The frequencies of aberrant methylation were: 40% for p14^ARF, 38.2% for MGMT, 30.9% for, p16^INK4a, 14.6% for TP73 and for TIMP-3, 12.7% for DAPK and 1.8% for RB1. These data suggest that the hypermethylation observed in the genes p14^ARF, MGMT and p16^INK4a is a very important event in the formation or progression of brain tumors, since the inactivation of these genes directly interferes with the cell cycle or DNA repair. The altered methylation rate of the other genes has already been reported to be related to tumorigenesis, but the low methylation rate of RB1 found in tumors in our sample is different from that so far reported in the literature, suggesting that perhaps hypermethylation of the promoter is not the main event in the inactivation of this gene. Our results suggest that hypermethylation of the promoter region is a very common event in nervous system tumors.

Haplotype diversity of 17 Y-str loci in an admixed population from the Brazilian Amazon

The allelic and haplotype frequencies of 17 Y-STR loci most commonly used in forensic testing were estimated in a sample of 138 unrelated healthy males from Macapá, in the northern Amazon region of Brazil. The average gene diversity was 0.6554 ± 0.3315. 134 haplotypes of the 17 loci were observed, 130 of them unique and four present in two individuals each. The haplotype diversity index was 0.9996 + 0.0009, with the most frequent haplogroups being R1b (52.2%), E1b1b (11.6%), J2 (10.1%) and Q (7.2%). Most haplogroups of this population belonged to European male lineages (89.2%), followed by Amerindian (7.2%) and African (3.6%) lineages.

Molecular analysis of three FUT3 gene single nucleotide polymorphisms and their relationship with the lewis erythrocytary phenotype in a human population of japanese-ancestry living in Tomé Açu, a town in the Brazilian Amazon

The Lewis blood group system involves two major antigens, Le^ª and Le^b. Their antigenic determinants are not primary gene products but are synthesized by the transfer of sugar subunits to a precursory chain by a specific enzyme which is the product of the FUT3 gene (Lewis gene). The presence of three FUT3 gene single nucleotide polymorphisms (SNPs) (59T > G; 508G > A and 1067T > A) was related to the Lewis phenotype of erythrocytes from 185 individuals of Japanese ancestry living in the town of Tomé-Açu in the Brazilian Amazon region. This relationship was detected using a serological hemagglutination test and the Dot-ELISA assay along with the molecular technique PCR-RFLP. We found that the three SNPs investigated in this study only accounted for a proportion of the Lewis-negative phenotype of the erythrocytes.

Allelic frequencies and statistical data obtained from 12 codis STR loci in an admixed population of the Brazilian Amazon

The allelic frequencies of 12 short tandem repeat loci were obtained from a sample of 307 unrelated individuals living in Macapá, a city in the northern Amazon region, Brazil. These loci are the most commonly used in forensics and paternity testing. Based on the allele frequency obtained for the population of Macapá, we estimated an interethnic admixture for the three parental groups (European, Native American and African) of, respectively, 46%, 35% and 19%. Comparing these allele frequencies with those of other Brazilian populations and of the Iberian Peninsula population, no significant distances were observed. The interpopulation genetic distances (F_ST coefficients) to the present database ranged from F_ST = 0.0016 between Macapá and Belém to F_ST = 0.0036 between Macapá and the Iberian Peninsula.

Increased risk of venous thrombosis by AB alleles of the ABO blood group and Factor V Leiden in a Brazilian population

Most cases of a predisposition to venous thrombosis are caused by resistance to activated protein C, associated in 95% of cases with the Factor V Leiden allele (FVL or R506Q). Several recent studies report a further increased risk of thrombosis by an association between the AB alleles of the ABO blood group and Factor V Leiden. The present study investigated this association with deep vein thrombosis (DVT) in individuals treated at the Hemocentro de Pernambuco in northeastern Brazil. A case-control comparison showed a significant risk of thrombosis in the presence of Factor V Leiden (OR = 10.1), which was approximately doubled when the AB alleles of the ABO blood group were present as well (OR = 22.3). These results confirm that the increased risk of deep vein thrombosis in the combined presence of AB alleles and Factor V Leiden is also applicable to the Brazilian population suggesting that ABO blood group typing should be routinely added to FVL in studies involving thrombosis.