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Sequential hygienic behavior in Carniolan honey bees (Apis mellifera carnica)

GRAMACHO, K. P.; GONCALVES, L. S.
Fonte: FUNPEC-EDITORA Publicador: FUNPEC-EDITORA
Tipo: Artigo de Revista Científica
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We examined the sequence, order or steps of hygienic behavior (HB) from pin-killed pupae until the removal of them by the bees. We conducted our study with four colonies of Apis mellifera carnica in Germany and made four repetitions. The pin-killing method was used for evaluation of the HB of bees. The data were collected every 2 h after perforation, totaling 13 observations. Additionally, for one hygienic colony and another non-hygienic colony, individual analyses of each dead pupa were made at every observation, including all details, steps or sequences of HB. The bees recognize the cells containing dead pupae within 2 h after perforation, initially making a hole in the capping, which is the beginning of HB. Uncapping of the dead brood cell reached maximum values from 4 to 6 h after perforation; after 24 h, practically all cells were already uncapped. Another variable, called brood partially removed, was analyzed 4 h after perforation, after the cells had been perforated, which involved uncapping, followed by partial or total removal of the brood. Maximum values of brood partially removed were found 10 h after perforation, though such cells could be found up to 48 h after perforation. The most frequent sequence of events in both colonies was: capped cell -> punctured cell. brood partially removed -> empty cell. A new model of three pairs of recessive genes (uncapping u1...

Comparative study of the hygienic behavior of Carniolan and Africanized honey bees directed towards grouped versus isolated dead brood cells

GRAMACHO, K. P.; GONCALVES, L. S.
Fonte: FUNPEC-EDITORA Publicador: FUNPEC-EDITORA
Tipo: Artigo de Revista Científica
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In Apis mellifera, hygienic behavior involves recognition and removal of sick, damaged or dead brood from capped cells. We investigated whether bees react in the same way to grouped versus isolated damaged capped brood cells. Three colonies of wild-type Africanized honey bees and three colonies of Carniolan honey bees were used for this investigation. Capped worker brood cells aged 12 to 14 days old were perforated with the pin-killing method. After making holes in the brood cells, the combs were placed back into the hives; 24 h later the number of cleaned cells was recorded in areas with pin-killed and control brood cells. Four repetitions were made in each colony. Isolated cells were more frequently cleaned than grouped cells, though variance analysis showed no significant difference (P = 0.1421). Carniolan bees also were somewhat, though not significantly more hygienic than Africanized honey bees (P = 0.0840). We conclude that honey bees can detect and remove both isolated and grouped dead brood. The tendency towards greater hygienic efficiency directed towards grouped pin-killed brood may be a consequence of a greater concentration of volatiles emanating from the wounds in the dead pupae.; Department of Genetics (FMRPUSP, Ribeirao Preto...

Infestation by Pyemotes tritici (Acari, Pyemotidae) causes death of stingless bee colonies (Hymenoptera: Meliponina)

MENEZES, C.; COLETTO-SILVA, A.; GAZETA, G. S.; KERR, W. E.
Fonte: FUNPEC-EDITORA Publicador: FUNPEC-EDITORA
Tipo: Artigo de Revista Científica
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We report the infestation of stingless bee nests by the mite Pyemotes tritici, which killed four colonies of Tetragonisca angustula and one colony of Frieseomelitta varia in Brazil. The first infected colony, a colony of T. angustula, came from an area between Uberlandia and Araguari, Minas Gerais. The transfer of the mites to the other colonies occurred through the transfer of infected combs and subsequent manipulations. Other colonies in the same meliponary, which had not been manipulated, were not infected. The infestation was terminated by isolating the dead colonies from the meliponary.; Genetics Laboratory of Uberl ndia (INGEB-UFU); Consorcio Capim Branco de Energia (CCBE); FAPESP[07/50218-1]

Novel insights into the genomic basis of citrus canker based on the genome sequences of two strains of Xanthomonas fuscans subsp aurantifolii

MOREIRA, Leandro M.; ALMEIDA JR., Nalvo F.; POTNIS, Neha; DIGIAMPIETRI, Luciano A.; ADI, Said S.; BORTOLOSSI, Julio C.; SILVA, Ana C. da; SILVA, Aline M. da; MORAES, Fabricio E. de; OLIVEIRA, Julio C. de; SOUZA, Robson F. de; FACINCANI, Agda P.; FERRAZ, A
Fonte: BIOMED CENTRAL LTD Publicador: BIOMED CENTRAL LTD
Tipo: Artigo de Revista Científica
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Background: Citrus canker is a disease that has severe economic impact on the citrus industry worldwide. There are three types of canker, called A, B, and C. The three types have different phenotypes and affect different citrus species. The causative agent for type A is Xanthomonas citri subsp. citri, whose genome sequence was made available in 2002. Xanthomonas fuscans subsp. aurantifolii strain B causes canker B and Xanthomonas fuscans subsp. aurantifolii strain C causes canker C. Results: We have sequenced the genomes of strains B and C to draft status. We have compared their genomic content to X. citri subsp. citri and to other Xanthomonas genomes, with special emphasis on type III secreted effector repertoires. In addition to pthA, already known to be present in all three citrus canker strains, two additional effector genes, xopE3 and xopAI, are also present in all three strains and are both located on the same putative genomic island. These two effector genes, along with one other effector-like gene in the same region, are thus good candidates for being pathogenicity factors on citrus. Numerous gene content differences also exist between the three cankers strains, which can be correlated with their different virulence and host range. Particular attention was placed on the analysis of genes involved in biofilm formation and quorum sensing...

Evaluation of algorithms used to order markers on genetic maps

MOLLINARI, M.; MARGARIDO, G. R. A.; VENCOVSKY, R.; GARCIA, A. A. F.
Fonte: NATURE PUBLISHING GROUP Publicador: NATURE PUBLISHING GROUP
Tipo: Artigo de Revista Científica
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When building genetic maps, it is necessary to choose from several marker ordering algorithms and criteria, and the choice is not always simple. In this study, we evaluate the efficiency of algorithms try (TRY), seriation (SER), rapid chain delineation (RCD), recombination counting and ordering (RECORD) and unidirectional growth (UG), as well as the criteria PARF (product of adjacent recombination fractions), SARF (sum of adjacent recombination fractions), SALOD (sum of adjacent LOD scores) and LHMC (likelihood through hidden Markov chains), used with the RIPPLE algorithm for error verification, in the construction of genetic linkage maps. A linkage map of a hypothetical diploid and monoecious plant species was simulated containing one linkage group and 21 markers with fixed distance of 3 cM between them. In all, 700 F(2) populations were randomly simulated with and 400 individuals with different combinations of dominant and co-dominant markers, as well as 10 and 20% of missing data. The simulations showed that, in the presence of co-dominant markers only, any combination of algorithm and criteria may be used, even for a reduced population size. In the case of a smaller proportion of dominant markers, any of the algorithms and criteria (except SALOD) investigated may be used. In the presence of high proportions of dominant markers and smaller samples (around 100)...

Quantitative Trait Loci Mapping and The Genetic Basis of Heterosis in Maize and Rice

GARCIA, Antonio Augusto Franco; WANG, Shengchu; MELCHINGER, Albrecht E.; ZENG, Zhao-Bang
Fonte: GENETICS Publicador: GENETICS
Tipo: Artigo de Revista Científica
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Despite its importance to agriculture, the genetic basis of heterosis is still not well understood. The main competing hypotheses include dominance, overdominance, and epistasis. NC design III is an experimental design that. has been used for estimating the average degree of dominance of quantitative trait 106 (QTL) and also for studying heterosis. In this study, we first develop a multiple-interval mapping (MIM) model for design III that provides a platform to estimate the number, genomic positions, augmented additive and dominance effects, and epistatic interactions of QTL. The model can be used for parents with any generation of selling. We apply the method to two data sets, one for maize and one for rice. Our results show that heterosis in maize is mainly due to dominant gene action, although overdominance of individual QTL could not completely be ruled out due to the mapping resolution and limitations of NC design III. For rice, the estimated QTL dominant effects could not explain the observed heterosis. There is evidence that additive X additive epistatic effects of QTL could be the main cause for the heterosis in rice. The difference in the genetic basis of heterosis seems to be related to open or self pollination of the two species. The MIM model for NC design III is implemented in Windows QTL Cartographer...

Inheritance of growth habit detected by genetic linkage analysis using microsatellites in the common bean (Phaseolus vulgaris L.)

CAMPOS, Tatiana de; OBLESSUC, Paula Rodrigues; SFORCA, Danilo Augusto; CARDOSO, Juliana Morini Kupper; BARONI, Renata Moro; SOUSA, Adna Cristina Barbosa de; CARBONELL, Sergio Augusto Morais; CHIORATTO, Alisson Fernando; GARCIA, Antonio Augusto Franco; RUB
Fonte: SPRINGER Publicador: SPRINGER
Tipo: Artigo de Revista Científica
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The genetic linkage map for the common bean (Phaseolus vulgaris L.) is a valuable tool for breeding programs. Breeders provide new cultivars that meet the requirements of farmers and consumers, such as seed color, seed size, maturity, and growth habit. A genetic study was conducted to examine the genetics behind certain qualitative traits. Growth habit is usually described as a recessive trait inherited by a single gene, and there is no consensus about the position of the locus. The aim of this study was to develop a new genetic linkage map using genic and genomic microsatellite markers and three morphological traits: growth habit, flower color, and pod tip shape. A mapping population consisting of 380 recombinant F10 lines was generated from IAC-UNA x CAL143. A total of 871 microsatellites were screened for polymorphisms among the parents, and a linkage map was obtained with 198 mapped microsatellites. The total map length was 1865.9 cM, and the average distance between markers was 9.4 cM. Flower color and pod tip shape were mapped and segregated at Mendelian ratios, as expected. The segregation ratio and linkage data analyses indicated that the determinacy growth habit was inherited as two independent and dominant genes, and a genetic model is proposed for this trait.; State of Sao Paulo Research Foundation (FAPESP); Brazilian National Council for Scientific and Technological Development (CNPq); FAPESP

Genetic interactions of the Ashergillus nidulans atmA(ATM) homolog with different components of the DNA damage response pathway

MALAVAZI, Iran; LIMA, Joel Fernandes; CASTRO, Patricia Alves de; SAVOLDI, Marcela; GOLDMANT, Maria Helena de Souza; GOLDMAN, Gustavo Henrique
Fonte: GENETICS Publicador: GENETICS
Tipo: Artigo de Revista Científica
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Ataxia telangiectasia mutated (ATM) is a phosphatidyl-3-kinase-related protein kinase that functions as a central regulator of the DNA damage response in eukaryotic cells. In humans, mutations in ATM cause the devastating neurodegenerative disease ataxia telangiectasia. Previously, we characterized the homolog of ATM (AtmA) in the filamentous fungus Aspergillus nidulans. In addition to its expected role in the DNA damage response, we found that AtmA is also required for polarized hyphal growth. Here, we extended these studies by investigating which components of the DNA damage response pathway are interacting with AtmA. The AtmA(ATM) loss of function caused synthetic lethality when combined with mutation in UvsB(ATR). Our results suggest that AtmA and UvsB are interacting and they are probably partially redundant in terms of DNA damage sensing and/or repairing and polar growth. We identified and inactivated A. nidulans chkA(CHK1) and chkB(CHK2) genes. These genes are also redundantly involved in A. nidulans DNA damage response. We constructed several combinations of double mutants for Delta atmA, Delta uvsB, Delta chkA, and Delta chkB. We observed a complex genetic relationship with these mutations during the DNA replication checkpoint and DNA damage response. Finally...

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

VILARINHO, Laura; TAFULO, Sandra; SIBILIO, Michelina; KOK, Fernando; FONTANA, Federica; DIOGO, Luisa; VENANCIO, Margarida; FERREIRA, Mariana; NOGUEIRA, Celia; VALONGO, Carla; PARENTI, Giancarlo; AMORIM, Antonio; AZEVEDO, Luisa
Fonte: NATURE PUBLISHING GROUP Publicador: NATURE PUBLISHING GROUP
Tipo: Artigo de Revista Científica
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L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on the L2HGDH gene have been associated with the clinical and biochemical phenotype. Here we present three novel mutations (Gln197X, Gly211Val and c.540+1 G>A), which increase the present deleterious collection of L2HGDH gene up to 35 mutations that we have compiled in this study. In addition, we used the haplotypic information based on polymorphic markers to demonstrate the common origin of Gly57Arg harboring chromosomes. Journal of Human Genetics (2010) 55, 55-58; doi: 10.1038/jhg.2009.110; published online 13 November 2009; Fundacao para a Ciencia e a Tecnologia (FCT)[C2007-IPATIMUP/AA1]; European Social Fund; Programa Operacional Ciencia e Inovacao[POCI 2010]; VI Programa Quadro

Understanding the genetic diversity, spatial genetic structure and mating system at the hierarchical levels of fruits and individuals of a continuous Theobroma cacao population from the Brazilian Amazon

SILVA, C. R. S.; ALBUQUERQUE, P. S. B.; ERVEDOSA, F. R.; MOTA, J. W. S.; FIGUEIRA, A.; SEBBENN, A. M.
Fonte: NATURE PUBLISHING GROUP Publicador: NATURE PUBLISHING GROUP
Tipo: Artigo de Revista Científica
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Understanding the mating patterns of populations of tree species is a key component of ex situ genetic conservation. In this study, we analysed the genetic diversity, spatial genetic structure (SGS) and mating system at the hierarchical levels of fruits and individuals as well as pollen dispersal patterns in a continuous population of Theobroma cacao in Para State, Brazil. A total of 156 individuals in a 0.56 ha plot were mapped and genotyped for nine microsatellite loci. For the mating system analyses, 50 seeds were collected from nine seed trees by sampling five fruits per tree (10 seeds per fruit). Among the 156 individuals, 127 had unique multilocus genotypes, and the remaining were clones. The population was spatially aggregated; it demonstrated a significant SGS up to 15m that could be attributed primarily to the presence of clones. However, the short seed dispersal distance also contributed to this pattern. Population matings occurred mainly via outcrossing, but selfing was observed in some seed trees, which indicated the presence of individual variation for self-incompatibility. The matings were also correlated, especially within ((r) over cap (p(m)) = 0.607) rather than among the fruits ((r) over cap (p(m)) = 0.099), which suggested that a small number of pollen donors fertilised each fruit. The paternity analysis suggested a high proportion of pollen migration (61.3%)...

Concordant Phylogeographies of 2 Malaria Vectors Attest to Common Spatial and Demographic Histories

PEDRO, Pedro M.; UEZU, Alexandre; SALLUM, Maria Anice Mureb
Fonte: OXFORD UNIV PRESS INC Publicador: OXFORD UNIV PRESS INC
Tipo: Artigo de Revista Científica
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The phylogeography of South American lineages is a topic of heated debate. Although a single process is unlikely to describe entire ecosystems, related species, which incur similar habitat limitations, can inform the history for a subsection of assemblages. We compared the phylogeographic patterns of the cytochrome oxidase I marker from Anopheles triannulatus (N = 72) and previous results for A. darlingi (N = 126) in a broad portion of their South American distributions. Both species share similar population subdivisions, with aggregations northeast of the Amazon River, in southern coastal Brazil and 2 regions in central Brazil. The average (ST) between these groups was 0.39 for A. triannulatus. Populations northeast of the Amazon and in southeastern Brazil are generally reciprocally monophyletic to the remaining groups. Based on these initial analyses, we constructed the a priori hypothesis that the Amazon and regions of high declivity pose geographic barriers to dispersal in these taxa. Mantel tests confirmed that these areas block gene flow for more than 1000 km for both species. The efficacy of these impediments was tested using landscape genetics, which could not reject our a priori hypothesis but did reject simpler scenarios. Results form summary statistics and phylogenetics suggest that both lineages originated in central Amazonia (south of the Amazon River) during the late Pleistocene (579 000 years ago) and that they followed the same paths of expansion into their contemporary distributions. These results may have implications for other species sharing similar ecological limitations but probably are not applicable as a general paradigm of Neotropical biogeography.; Fundacao de Amparo a Pesquisa do Estado de Sao Paulo FAPESP[05/53973-0]; Fundacao de Amparo a Pesquisa do Estado de Sao Paulo FAPESP[08/06099-0]

Independent fusions and recent origins of sex chromosomes in the evolution and diversification of glass knife fishes (Eigenmannia)

HENNING, F.; MOYSES, C. B.; CALCAGNOTTO, D.; MEYER, A.; ALMEIDA-TOLEDO, L. F. de
Fonte: NATURE PUBLISHING GROUP Publicador: NATURE PUBLISHING GROUP
Tipo: Artigo de Revista Científica
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The genus Eigenmannia comprises several species groups that display a surprising variety of diploid chromosome numbers and sex-determining systems. In this study, hypotheses regarding phylogenetic relationships and karyotype evolution were investigated using a combination of molecular and cytogenetic methods. Phylogenetic relationships were analyzed for 11 cytotypes based on sequences from five mitochondrial DNA regions. Parsimony-based character mapping of sex chromosomes confirms previous suggestions of multiple origins of sex chromosomes. Molecular cytogenetic analyses involved chromosome painting using probes derived from whole sex chromosomes from two taxa that were hybridized to metaphases of their respective sister cytotypes. These analyses showed that a multiple XY system evolved recently (<7 mya) by fusion. Furthermore, one of the chromosomes that fused to form the neo-Y chromosome is fused independently to another chromosome in the sister cytotype. This may constitute an efficient post-mating barrier and might imply a direct function of sex chromosomes in the speciation processes in Eigenmannia. The other chromosomal sex-determination system investigated is shown to have differentiated by an accumulation of heterochromatin on the X chromosome. This has occurred in the past 0.6 my...

The Evolution of Modularity in the Mammalian Skull II: Evolutionary Consequences

MARROIG, Gabriel; SHIRAI, Leila T.; PORTO, Arthur; OLIVEIRA, Felipe B. de; CONTO, Valderes De
Fonte: SPRINGER Publicador: SPRINGER
Tipo: Artigo de Revista Científica
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Changes in patterns and magnitudes of integration may influence the ability of a species to respond to selection. Consequently, modularity has often been linked to the concept of evolvability, but their relationship has rarely been tested empirically. One possible explanation is the lack of analytical tools to compare patterns and magnitudes of integration among diverse groups that explicitly relate these aspects to the quantitative genetics framework. We apply such framework here using the multivariate response to selection equation to simulate the evolutionary behavior of several mammalian orders in terms of their flexibility, evolvability and constraints in the skull. We interpreted these simulation results in light of the integration patterns and magnitudes of the same mammalian groups, described in a companion paper. We found that larger magnitudes of integration were associated with a blur of the modules in the skull and to larger portions of the total variation explained by size variation, which in turn can exert a strong evolutionary constraint, thus decreasing the evolutionary flexibility. Conversely, lower overall magnitudes of integration were associated with distinct modules in the skull, to smaller fraction of the total variation associated with size and...

Craniometric Similarities Within and Between Human Populations in Comparison with Neutral Genetic Data

STRAUSS, Andre; HUBBE, Mark
Fonte: WAYNE STATE UNIV PRESS Publicador: WAYNE STATE UNIV PRESS
Tipo: Artigo de Revista Científica
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The statement that pairs of individuals from different populations are often more genetically similar than pairs from the same population is a widespread idea inside and outside the scientific community. Witherspoon et al. [""Genetic similarities within and between human populations,"" Genetics 176:351-359 (2007)] proposed an index called the dissimilarity fraction (omega) to access in a quantitative way the validity of this statement for genetic systems. Witherspoon demonstrated that, as the number of loci increases, omega decreases to a point where, when enough sampling is available, the statement is false. In this study, we applied the dissimilarity fraction to Howells`s craniometric database to establish whether or not similar results are obtained for cranial morphological traits. Although in genetic studies thousands of loci are available, Howells`s database provides no more than 55 metric traits, making the contribution of each variable important. To cope with this limitation, we developed a routine that takes this effect into consideration when calculating. omega Contrary to what was observed for the genetic data, our results show that cranial morphology asymptotically approaches a mean omega of 0.3 and therefore supports the initial statement-that is...

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

Smemo, Scott; Campos, Luciene C.; Moskowitz, Ivan P.; Krieger, Jose E.; Pereira, Alexandre C.; Nobrega, Marcelo A.
Fonte: OXFORD UNIV PRESS; OXFORD Publicador: OXFORD UNIV PRESS; OXFORD
Tipo: Artigo de Revista Científica
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Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the large component of the genome that does not code for proteins, but is nonetheless biologically functional. To address the possible involvement of regulatory variation in congenital heart diseases (CHDs), we searched for regulatory mutations impacting the activity of TBX5, a dosage-dependent transcription factor with well-defined roles in the heart and limb development that has been associated with the HoltOram syndrome (hearthand syndrome), a condition that affects 1/100 000 newborns. Using a combination of genomics, bioinformatics and mouse genetic engineering, we scanned approximate to 700 kb of the TBX5 locus in search of cis-regulatory elements. We uncovered three enhancers that collectively recapitulate the endogenous expression pattern of TBX5 in the developing heart. We re-sequenced these enhancer elements in a cohort of non-syndromic patients with isolated atrial and/or ventricular septal defects, the predominant cardiac defects of the HoltOram syndrome, and identified a patient with a homozygous mutation in an enhancer approximate to 90 kb downstream of TBX5. Notably...

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Hood, Rebecca L.; Lines, Matthew A.; Nikkel, Sarah M.; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Malgorzata J. M.; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S.; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whitefo
Fonte: CELL PRESS; CAMBRIDGE Publicador: CELL PRESS; CAMBRIDGE
Tipo: Artigo de Revista Científica
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Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic MS. Sanger sequencing identified mutations in SRCAP in eight more affected persons. Mutations were de novo in all six instances in which parental DNA was available. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). Five SRCAP mutations, two of which are recurrent, were identified; all are tightly clustered within a small (111 codon) region of the final exon. These mutations are predicted to abolish three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact. Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS.; government of Canada through Genome Canada; government of Canada through Genome Canada; Canadian Institutes of Health Research (CIHR); Canadian Institutes of Health Research (CIHR); Ontario Genomics Institute [OGI-049]; Ontario Genomics Institute; Genome Quebec; Genome Quebec; Genome British Columbia; Genome British Columbia; CIHR Institute of Genetics; CIHR Institute of Genetics

Diversity of the KIR gene cluster in an urban Brazilian population

Augusto, D. G.; Zehnder-Alves, L.; Pincerati, M. R.; Martin, M. P.; Carrington, M.; Petzl-Erler, Maria Luiza
Fonte: SPRINGER; NEW YORK Publicador: SPRINGER; NEW YORK
Tipo: Artigo de Revista Científica
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The activity of natural killer cells depends on the balance between activating and inhibitory signals coming from their receptors. Among these are the killer cell immunoglobulin-like receptors (KIR) that recognize specific HLA class I allotypes. Here we characterized KIR genetic diversity and their HLA ligands in the population of Curitiba, Parana State (n = 164), and compared it with other worldwide populations. The distribution of 2DL4 alleles was also analyzed. The Curitiba population did not differ significantly from European and Euro-descendant populations, but as an admixed population showed higher genetic diversity. We found 27 KIR profiles, many of them uncommon in European populations, in agreement with the elevated historically recent gene flow in the study population. The frequencies of KIR genes and their respective HLA ligands were distributed independently and none of the analyzed individuals lacked functional KIR-HLA ligand combinations. KIR gene frequencies of 33 worldwide populations were consistent with geographic and ethnic distribution, in agreement with demography being the major factor shaping the observed gene content diversity of the KIR locus.; Laboratory of Human Molecular Genetics at the Department of Genetics of the Federal University of Parana; Laboratory of Human Molecular Genetics at the Department of Genetics of the Federal University of Parana; Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq); Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq); PRONEX; PRONEX; Institutos do Milenio; Institutos do Milenio; Fundacao Araucaria; Fundacao Araucaria; Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES); Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES); National Cancer Institute...

Robert Heath Lock and His Textbook of Genetics, 1906

Edwards, A. W. F.
Fonte: Genetics Society of America Publicador: Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /07/2013 Português
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Robert Heath Lock (1879–1915), a Cambridge botanist associated with William Bateson and R. C. Punnett, published his book Recent Progress in the Study of Variation, Heredity, and Evolution in 1906. This was a remarkable textbook of genetics for one appearing so early in the Mendelian era. It covered not only Mendelism but evolution, natural selection, biometry, mutation, and cytology. It ran to five editions but was, despite its success, largely forgotten following Lock’s early death in 1915. Nevertheless it was the book that inspired H. J. Muller to do genetics and was remembered by A. H. Sturtevant as the source of the earliest suggestion that linkage might be related to the exchange of parts between homologous chromosomes. Here we also put forward evidence that it had a major influence on the statistician and geneticist R. A. Fisher at the time he was a mathematics student at Cambridge.

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Lines, Matthew A.; Huang, Lijia; Schwartzentruber, Jeremy; Douglas, Stuart L.; Lynch, Danielle C.; Beaulieu, Chandree; Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Gener, Blanca; Gillessen-Kaesbach, Gabriele; Nava, Caroline; Baujat, Genevieve; H
Fonte: CELL PRESS; CAMBRIDGE Publicador: CELL PRESS; CAMBRIDGE
Tipo: Artigo de Revista Científica
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Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.; government of Canada through Genome Canada; government of Canada through Genome Canada; Canadian Institutes of Health Research (CIHR); Canadian Institutes of Health Research (CIHR); Ontario Genomics Institute; Ontario Genomics Institute [OGI-049]; Genome Quebec; Genome Quebec; Genome British Columbia; Genome British Columbia; Physicians Services Incorporated Foundation; Physicians' Services Incorporated Foundation; German Ministry of Research and Education [BMBF 01GM0802]; German Ministry of Education and Research; CIHR Institute of Genetics; CIHR Institute of Genetics

PubMed, The New York Times and The Chicago Tribune as Tools for Teaching Genetics

Strauss, Bernard S.
Fonte: Copyright © 2005 by the Genetics Society of America Publicador: Copyright © 2005 by the Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /12/2005 Português
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An elementary course in human heredity for students not planning to major in the sciences can be based on current scientific literature and on the popular media. Examinations are constructed from questions on recent abstracts obtained from PubMed. The course is designed to promote writing skills in the sciences, and students write two papers in the course of a quarter. In the first paper, students trace the primary source of media reports on genetics and attempt to evaluate the reporter's translation. In a second paper, students write popular articles on the basis of current primary sources.