Conservation genetics of the endangered Pampas deer (Ozotoceros bezoarticus)

The Pampas deer (Ozotoceros bezoarticus L. 1758) is the most endangered neotropical cervid, and in the past occupied a wide range of open habitats including grassland, pampas, savanna, and cerrado (Brazil) from 5 degrees to 41 degrees S. To better understand the effect of habitat fragmentation on gene flow and genetic variation, and to uncover genetic units for conservation, we examined DNA sequences from the mitochondrial control region of 54 individuals from six localities distributed throughout the present geographical range of the Pampas deer. Our results suggest that the control region of the Pampas deer is one of the most polymorphic of any mammal. This remarkably high variability probably reflects large historic population sizes of millions of individuals in contrast to numbers of fewer than 80 000 today. Gene flow between populations is generally close to one migrant per generation and, with the exception of two populations from Argentina, all populations are significantly differentiated. The degree of gene flow was correlated with geographical distance between populations, a result consistent with limited dispersal being the primary determinant of genetic differentiation between populations. The molecular genetic results provide a mandate for habitat restoration and reintroduction of Pampas deer so that levels of genetic variation can be preserved and historic patterns of abundance can be reconstructed. However, the source of individuals for reintroduction generally should be from populations geographically closest to those now in danger of extinction.

Epidemiology and genetics of endemic goiter. II. Genetic aspects

Complex genetic models and segregation analysis were applied to family data obtained in a hyperendemic goiter area in Brazil. The single locus and Falconer's models did not fit the data. Edward's model showed convergency, but statistical concordance has not been obtained. Although the genetic load model explains statistically the family data, it would be hard to imagine that endemic goiter could be explained by a model where synergism among genetic and environmental factors is not assumed.

Epidemiology and genetics of endemic goiter. I. Epidemiological aspects

This study dealt with approximately 2,000 children and their parents living in a hyperendemic goiter area in Central Brazil, which is bounded by the jungle to the north and by a large plain to the south. The determination of goiter was made according to the methods and classification adopted by WHO. Conspicuous forms of goiter were found in 41% of the children examined. Multiple linear regression analysis showed an increase with age in the frequency of goiter in both sexes. Although data from the literature show that Mulattoes and Negroes have statistically higher frequencies of goiter than do Whites, our multiple linear regression analysis revealed no evidence for an effect of race on the endemism. There was no significant association with socioeconomic level. The presence of goiter in parents was shown to be statistically associated with its occurrence in the children.

Latin-American Society Of Forensic Genetics (SLAGF) results of the Interlaboratory Quality Control Exercise 2010-2011

Latin-American Society of Forensic Genetics (SLAGF) Interlaboratory Quality Control Exercise (2010-2011) included the analysis of three bloodstain samples in FTA Classic Card (three persons, biologically unrelated) and one theoretical exercise. There were 56 participating laboratories from 13 Latin-American countries that belong to society, were reported 70 STRs, including autosomal and sex chromosome markers with consensus in 53 STRs with a rate in reporting errors of 2.3%. Fifty-six laboratories reported results in theoretical exercise with mistakes in calculation of IP for each marker. It is necessary to hold meetings to discuss the results of this exercise to reach conclusions and recommendations on all aspects of DNA forensics analysis and paternity test, to improve results and quality in the results of each laboratory. © 2011 Elsevier B.V.

Biologic and genetics aspects of chagas disease at endemic areas

The etiologic agent of Chagas Disease is the Trypanosoma cruzi, transmitted through blood-sucking insect vectors of the Triatominae subfamily, representing one of the most serious public health concerns in Latin America. There are geographic variations in the prevalence of clinical forms and morbidity of Chagas disease, likely due to genetic variation of the T. cruzi and the host genetic and environmental features. Increasing evidence has supported that inflammatory cytokines and chemokines are responsible for the generation of the inflammatory infiltrate and tissue damage. Moreover, genetic polymorphisms, protein expression levels, and genomic imbalances are associated with disease progression. This paper discusses these key aspects. Large surveys were carried out in Brazil and served as baseline for definition of the control measures adopted. However, Chagas disease is still active, and aspects such as host-parasite interactions, genetic mechanisms of cellular interaction, genetic variability, and tropism need further investigations in the attempt to eradicate the disease. Copyright 2012 Marilanda Ferreira Bellini et al.

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.

The genetics of New World monkey visual pigments

To have color vision, having at least two cone photopigment types with different spectral sensitivities present in distinct photoreceptors is necessary together with the neural circuitry necessary to extract color information. Visual pigments are highly conserved molecules, but differences can be found among vertebrate groups. Primates have a variety of cone photopigments (i.e., opsins) that are expressed by polymorphic genes. This article examines the diversity of cone photopigments in New World monkeys and their behavioral relevance.

Consolidation of the genetic and cytogenetic maps of turbot (Scophthalmus maximus) using FISH with BAC clones

Bacterial artificial chromosomes (BAC) have been widely used for fluorescence in situ hybridization (FISH) mapping of chromosome landmarks in different organisms, including a few in teleosts. In this study, we used BAC-FISH to consolidate the previous genetic and cytogenetic maps of the turbot (Scophthalmus maximus), a commercially important pleuronectiform. The maps consisted of 24 linkage groups (LGs) but only 22 chromosomes. All turbot LGs were assigned to specific chromosomes using BAC probes obtained from a turbot 5x genomic BAC library. It consisted of 46,080 clones with inserts of at least 100 kb and < 5 % empty vectors. These BAC probes contained gene-derived or anonymous markers, most of them linked to quantitative trait loci (QTL) related to productive traits. BAC clones were mapped by FISH to unique marker-specific chromosomal positions, which showed a notable concordance with previous genetic mapping data. The two metacentric pairs were cytogenetically assigned to LG2 and LG16, and the nucleolar organizer region (NOR)-bearing pair was assigned to LG15. Double-color FISH assays enabled the consolidation of the turbot genetic map into 22 linkage groups by merging LG8 with LG18 and LG21 with LG24. In this work, a first-generation probe panel of BAC clones anchored to the turbot linkage and cytogenetical map was developed. It is a useful tool for chromosome traceability in turbot, but also relevant in the context of pleuronectiform karyotypes, which often show small hardly identifiable chromosomes. This panel will also be valuable for further integrative genomics of turbot within Pleuronectiformes and teleosts, especially for fine QTL mapping for aquaculture traits, comparative genomics, and whole-genome assembly.

Simulating Population Genetics of Pathogen Vectors in Changing Landscapes: Guidelines and Application with Triatoma brasiliensis

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

The relationship between obesity, low back pain, and lumbar disc degeneration when genetics and the environment are considered: a systematic review of twin studies

BACKGROUND CONTEXT: The relationships between obesity and low back pain (LBP) and lumbar disc degeneration (LDD) remain unclear. It is possible that familial factors, including genetics and early environment, affect these relationships.PURPOSE: To investigate the relationship between obesity-related measures (eg, weight, body mass index [BMI]) and LBP and LDD using twin studies, where the effect of genetics and early environment can be controlled.STUDY DESIGN: A systematic review with meta-analysis.METHODS: MEDLINE, CINAHL, Scopus, Web of Science, and EMBASE databases were searched from the earliest records to August 2014. All cross-sectional and longitudinal observational twin studies identified by the search strategy were considered for inclusion. Two investigators independently assessed the eligibility, conducted the quality assessment, and extracted the data. Metaanalyses (fixed or random effects, as appropriate) were used to pool studies'estimates of association.RESULTS: In total, 11 articles met the inclusion criteria. Five studies were included in the LBP analysis and seven in the LDD analysis. For the LBP analysis, pooling of the five studies showed that the risk of having LBP for individuals with the highest levels of BMI or weight was almost twice that of people with a lower BMI (odds ratio [OR] 1.8; 95% confidence interval [CI] 1.6-2.0; I-2 = 0%). A dose-response relationship was also identified. When genetics and the effects of a shared early environment were adjusted for using a within-pair twin case-control analysis, pooling of three studies showed a reduced but statistically positive association between obesity and prevalence of LBP (OR 1.5; 95% CI 1.1-2.1; I-2 = 0%). However, the association was further diminished and not significant (OR 1.4; 95% CI 0.8-2.3; I-2 = 0%) when pooling included two studies on monozygotic twin pairs only. Seven studies met the inclusion criteria for LDD. When familial factors were not controlled for, body weight was positively associated with LDD in all five cross-sectional studies. Only two cross-sectional studies investigated the relationship between obesity-related measures and LDD accounting for familial factors, and the results were conflicting. One longitudinal study in LBP and three longitudinal studies in LDD found no increase in risk in obese individuals, whether or not familial factors were controlled for.CONCLUSIONS: Findings from this review suggest that genetics and early environment are possible mechanisms underlying the relationship between obesity and LBP; however, a direct causal link between these conditions appears to be weak. Further longitudinal studies using the twin design are needed to better understand the complex mechanisms underlying the associations between obesity, LBP, and LDD.

Insights into HLA-G genetics provided by worldwide haplotype diversity

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

Landscape Genetics of Raccoons (Procyon lotor) Associated with Ridges and Valleys of Pennsylvania: Implications for Oral Rabies Vaccination Programs

Raccoons are the reservoir for the raccoon rabies virus variant in the United States. To combat this threat, oral rabies vaccination (ORV) programs are conducted in many eastern states. To aid in these efforts, the genetic structure of raccoons (Procyon lotor) was assessed in southwestern Pennsylvania to determine if select geographic features (i.e., ridges and valleys) serve as corridors or hindrances to raccoon gene flow (e.g., movement) and, therefore, rabies virus trafficking in this physiographic region. Raccoon DNA samples (n = 185) were collected from one ridge site and two adjacent valleys in southwestern Pennsylvania (Westmoreland, Cambria, Fayette, and Somerset counties). Raccoon genetic structure within and among these study sites was characterized at nine microsatellite loci. Results indicated that there was little population subdivision among any sites sampled. Furthermore, analyses using a model-based clustering approach indicated one essentially panmictic population was present among all the raccoons sampled over a reasonably broad geographic area (e.g., sites up to 36 km apart). However, a signature of isolation by distance was detected, suggesting that widths of ORV zones are critical for success. Combined, these data indicate that geographic features within this landscape influence raccoon gene flow only to a limited extent, suggesting that ridges of this physiographic system will not provide substantial long-term natural barriers to rabies virus trafficking. These results may be of value for future ORV efforts in Pennsylvania and other eastern states with similar landscapes.

Using Genetics to Assess Differentiation Among Raccoons in an Area with Variable Rabies Status in Alabama

The western spread of raccoon rabies in Alabama has been slow and even appears to regress eastward periodically. While the disease has been present in the state for over 30 years, areas in northwest Alabama are devoid of raccoon rabies. This variation resulting in an enzootic area of raccoon rabies primarily in southeastern Alabama may be due to landscape features that hinder the movement of raccoons (i.e., gene flow) among different locations. We used 11 raccoon-specific microsatellite markers to obtain individual genotypes to examine gene flow among areas that were rabies free, enzootic with rabies, or had only sporadic reports of the disease. Samples from 70 individuals were collected from 5 sampling localities in 3 counties. The landscape feature data were collected from geographic information system (GIS) data. We inferred gene flow by estimating FST and by using Bayesian tests to identify genetic clusters. Estimates of pairwise FST indicated genetic differentiation and restricted gene flow between some sites, and an uneven distribution of genetic clusters was observed. Of the landscape features examined (i.e., land cover, elevation, slope, roads, and hydrology), only land cover had an association with genetic differentiation, suggesting this landscape variable may affect gene flow among raccoon populations and thus the spread of raccoon variant of rabies in Alabama.