Genetic breeding on the bee Melipona scutellaris (Apidae, Meliponinae)

A selection of queens of Melipona scutellaris through the most productive colonies were carried out during eight months in an orange honeyflow. Each of the colonies was evaluated by its production, that is, the gross weight production ( pollen, brood, geopropolis and wax of each hive). With this data a coefficient of repeatability was estimated by the intraclass correlation method, obtained r = 0.835 ± 0.071. The repeatibility is very high showing that the analysed data (production) is repeatable. Selection was then carried out using the regression coefficient of each colony and the respective production gain. Using these data the colonies were divided into three groups according to the method Vencovsky and Kerr (1982): a with the colonies of highest productivity, b of least productivity, and c of intermediary productivity. Colonies with the highest production (Group a) gave their queens to those of the lowest production (Group b) after their queens were taken out and killed; while those of intermediate (Group c) stayed with the same queens during the entire experiment both before and after the selection. The modifications in weight, that is, the genetic response was (R)= 7.98 gr per day which indicated a selection gain. The estimate of the realized herdability is twice the rate of the response to selection (R) by the selection differential (S2). That is then h²R=2(R/S2) then h²R= 0.166

Geographic pattern of genetic diversity in natural populations of Rosewood (Aniba rosaeodora), in the Central Amazonia

Rosewood (Aniba rosaeodora Ducke, Lauraceae) is an Amazonian evergreen tree and a source of the purest linalool, the main component of its essential oil, which is very valuable in the international perfumery market. After decades of over-exploitation it is currently considered as threatened. We evaluated the genetic diversity and its distribution in four populations in Central Amazonia. Thirty-five reliable RAPD markers were generated, of which 32 were polymorphic (91.4%). Variation was higher within the populations (76.5%; p < 0.0001) and geographic distribution contributed to population differentiation (23.4%; p < 0.0001). The Amazon River had a small influence on gene flow (3.3%; p < 0.0001), but we identified evidence of gene flow across the river. There were significant differences in marker frequencies (p < 0.05), in agreement with the low gene flow (Nm = 2.02). The correlation between genetic distance and gene flow was - 0.95 (p = 0.06) and between geographic distance and gene flow was -0.78 (p = 0.12). There was a geographic cline of variability across an East-West axis, influenced as well by the Amazon River, suggesting the river could be a barrier to gene flow. Although threatened, these Rosewood populations retain high diversity, with the highest levels in the Manaus population, which has been protected for over 42 years in a Reserve.

Genetic diversity in rosewood saplings (Aniba rosaeodora ducke, Lauraceae): an ecological approach

This article takes an ecological approach to the genetic diversity of Rosewood (Aniba rosaeodora Ducke) in a central Amazonian terra firme forest north of Manaus. Planted Rosewood setting, under partial shaded canopy, were assessed in terms of fruiting production, frugivory, and seed dispersal. Using RAPD molecular analysis procedures, the influence of the spatial distribution of adult trees on the genetic diversity (polymorphism) of saplings was assessed with genetic samples from 34 reproductive trees and 60 saplings. The density and distribution patterns the reproductive trees did not modify the sapling"s diversity (1.86%, AMOVA). Two types of adult tree dispersion were identified; i) clumped and ii) more widely dispersed. Polymorphism (77.5%) and gene flow were high between these. Although more sapling genetic variability in areas with a higher density of mature plants was not as high as expected, density did not affect the genetic diversity of samplings, indicating a high incidence of gene flow amongst trees. In planted Rosewood population (surrounded by low disturbed forest), fruiting trees experienced a high level of removal of seeds by toucans (Rhamphastidae), about of 50%. The high gene flow found among native trees suggested that toucans, promoting seed rain at short and long distances from maternal trees, actively contribute to the maintenance of genetic diversity within wild rosewood populations.

PTX3-based genetic testing for risk of aspergillosis after lung transplant

PTX3-based genetic testing for risk of aspergillosis after lung transplant

A genetic perspective on African prehistory

The various genetic systems (mitochondrial DNA, the Y-chromosome and the genome-wide autosomes) indicate that Africa is the most genetically diverse continent in the world and the most likely place of origin for anatomically modern humans. However, where in Africa modern humans arose and how the current genetic makeup within the continent was shaped is still open to debate. Here, we summarize the debate and focus especially on the maternally inherited mitochondrial DNA (mtDNA) and a recently revised chronology for the African mtDNA tree. We discuss the possible origin of modern humans in southern, eastern or Central Africa; the possibility of a migration from southern to eastern Africa more than 100 ka, carrying lineages within mtDNA haplogroup L0; the evidence for a climate-change-mediated population expansion in eastern Africa involving mtDNA haplogroup L3, leading to the “out-of-Africa” migration around 70–60 ka; the re-population of North Africa from the Near East around 40–30 ka suggested by mtDNA haplogroups U6 and M1; the evidence for population expansions and dispersals across the continent at the onset of the Holocene ; and the impact of the Bantu dispersals in Central, eastern and southern Africa within the last few millennia.

Use of tandem stents for treatment of helicoidal dissection of the right coronary artery

Coronary dissection occurs frequently and in several degrees during coronary angioplasty, which is one of the mechanisms for increasing the lumen diameter of a vessel. However the length of the dissection may affect the procedure, becoming the most frequent cause of total occlusion after coronary angioplasty. We report here a case of extensive dissection that occurred during the coronary angioplasty of a focused lesion, which we treated with two long stents.

Genetic regulatory mechanisms by means of extended interactive Petri nets

In our work we have chosen to integrate formalism for knowledge representation with formalism for process representation as a way to specify and regulate the overall activity of a multi-cellular agent. The result of this approach is XP,N, another formalism, wherein a distributed system can be modeled as a collection of interrelated sub-nets sharing a common explicit control structure. Each sub-net represents a system of asynchronous concurrent threads modeled by a set of transitions. XP,N combines local state and control with interaction and hierarchy to achieve a high-level abstraction and to model the complex relationships between all the components of a distributed system. Viewed as a tool XP,N provides a carefully devised conflict resolution strategy that intentionally mimics the genetic regulatory mechanism used in an organic cell to select the next genes to process.

Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia

There has been a long-standing debate concerning the extent to which the spread of Neolithic ceramics and Malay-Polynesian languages in Island Southeast Asia (ISEA) were coupled to an agriculturally driven demic dispersal out of Taiwan 4000 years ago (4 ka). We previously addressed this question using founder analysis of mitochondrial DNA (mtDNA) control-region sequences to identify major lineage clusters most likely to have dispersed from Taiwan into ISEA, proposing that the dispersal had a relatively minor impact on the extant genetic structure of ISEA, and that the role of agriculture in the expansion of the Austronesian languages was therefore likely to have been correspondingly minor. Here we test these conclusions by sequencing whole mtDNAs from across Taiwan and ISEA, using their higher chronological precision to resolve the overall proportion that participated in the "out-of-Taiwan" mid-Holocene dispersal as opposed to earlier, postglacial expansions in the Early Holocene. We show that, in total, about 20 % of mtDNA lineages in the modern ISEA pool result from the "out-of-Taiwan" dispersal, with most of the remainder signifying earlier processes, mainly due to sea-level rises after the Last Glacial Maximum. Notably, we show that every one of these founder clusters previously entered Taiwan from China, 6-7 ka, where rice-farming originated, and remained distinct from the indigenous Taiwanese population until after the subsequent dispersal into ISEA.

Risk factors, biochemical markers, and genetic polymorphisms in early coronary artery disease

OBJECTIVE: To assess the risk factors, lipid and apolipoprotein profile, hemostasis variables, and polymorphisms of the apolipoprotein AI-CIII gene in early coronary artery disease (CAD). METHODS: Case-control study with 112 patients in each group controlled by sex and age. After clinical evaluation and nutritional instruction, blood samples were collected for biochemical assays and genetic study. RESULTS: Familial history of early CAD (64 vs 39%), arterial hypertension (69 vs 36%), diabetes mellitus (25 vs 3%), and previous smoking (71 vs 46%) were more prevalent in the case group (p<0.001). Hypertension and diabetes were independent risk factors. Early CAD was characterized by higher serum levels of total cholesterol (235 ± 6 vs 209 ± 4 mg/dL), of LDL-c (154 ± 5 vs 135 ± 4 mg/dL), triglycerides (205 ± 12 vs 143 ± 9 mg/dL), and apolipoprotein B (129 ± 3 vs 105 ± 3 mg/dL), and lower serum levels of HDL-c (40 ± 1 vs 46 ± 1 mg/dL) and apolipoprotein AI (134 ± 2 vs 146 ± 2mg/dL) [p<0.01], in addition to an elevation in fibrinogen and D-dimer (p<0.02). The simultaneous presence of the rare alleles of the APO AI-CIII genes in early CAD are associated with hypertriglyceridemia (p=0.03). CONCLUSION: Of the classical risk factors, hypertension and diabetes mellitus were independently associated with early CAD. In addition to an unfavorable lipid profile, an increase in the thrombotic risk was identified in this population. An additive effect of the APO AI-CIII genes was observed in triglyceride levels.

Marfan's syndrome: early and severe form in siblings

Marfan's syndrome is an inherited disorder of the connective tissue. Cardiologic manifestations, especially aortic dilation, are important causes of morbidity and mortality in the clinical course of the disease in adults and teenagers. In children, the presence of aortic aneurysm and its dissection or rupture is rare, occurring in patients with genetic mutation of the fibrillin gene but not in those who have the familial form of the disease. We describe here 2 patients, from the same family (siblings), diagnosed with gigantic aortic aneurysm early in infancy, one of them successfully undergoing surgery.

Genetic diversity and population structure in Vicia faba L. landraces and wild related species assessed by nuclear SSRs

Research Article

Preservación de la información génica en bacterias; mecanismos y modulación molecular. Preservation of the genetic information in bacteria; mechanisms and molecular modulation.

El objetivo general del presente proyecto es contribuir a la caracterización genética y bioquímica molecular de mecanismos involucrados en el mantenimiento de la información génica, a través del estudio de sistemas fisiológicos involucrados en la prevención, reparación y tolerancia de mutaciones. Dichos sistemas se encuentran evolutivamente conservados y ampliamente distribuidos en los seres vivos. La importancia de los mismos se refleja en el hecho que su deficiencia genera en humanos, enfermedades genéticas, apoptosis y cáncer; y en especies procariotas, células denominadas "hipermutadoras". En los últimos años el estudio de la hipermutabilidad en bacterias ha cobrado gran interés ya que se le atribuye importancia en procesos infectivos y en aspectos básicos relacionados a evolución. Nuestro modelo de estudio son las bacterias Pseudomonas aeruginosa y Escherichia coli, siendo esta última especie no solo modelo de estudio sino también especie de referencia. P. aeruginosa es una bacteria ambiental gram negativa, e importante patógeno oportunista de humanos. Específicamente nos proponemos estudiar en P. aeruginosa algunos aspectos particulares del Sistema de Reparación de Bases Apareadas Incorrectamente (Mismatch Repair System, MRS), del Sistema de Prevención/Reparación de Lesiones Oxidativas generadas a través de 8-oxo-7,8-dihidroguanina (8-oxo-dG ó GO) y el papel de las ADN Polimerasas de baja fidelidad en la modulación de la tasa de mutación. Asimismo estamos interesados en estudiar en cepas de E. coli deficientes en el sistema Dam, la existencia de subpoblaciones de alta estabilidad genética debido a la eliminación de posibles mutantes por incremento de la expresión de los otros componentes del MRS. Metodológicamente la caracterización bioquímica de factores proteicos se llevará a cabo utilizando proteínas recombinantes purificadas, análisis de interacción proteína-proteína y proteína-ADN mediante electroforesis en geles y resonancia plasmónica de superficie (Biacore), mutagenésis dirigida in vitro, y estudios de complementación en cepas mutantes específicas. Aspectos fenotípicos y de regulación génica en cultivos de biofilm y células en suspensión serán estudiados mediante la construcción de cepas mutantes, fusiones transcripcionales, PCR en tiempo real, western blot y microscopia de fluorescencia confocal.