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1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency Genet. Mol. Biol.
Linhares,Natália Duarte; Freire,Maíra Cristina Menezes; Cardenas,Raony Guimarães Corrêa do Carmo Lisboa; Pena,Heloisa Barbosa; Lachlan,Katherine; Dallapiccola,Bruno; Bacino,Carlos; Delobel,Bruno; James,Paul; Thuresson,Ann-Charlotte; Annerén,Göran; Pena,Sérgio D. J..
Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all...
Tipo: Info:eu-repo/semantics/article Palavras-chave: 1p13.2 deletion; Noonan syndrome type 6; NRAS gene; RASopathy; Unmasking heterozygosity.
Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300349
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5S rDNA characterization in twelve Sciaenidae fish species (Teleostei, Perciformes): depicting gene diversity and molecular markers Genet. Mol. Biol.
Alves-Costa,Fernanda A.; Martins,Cesar; Matos,Fernanda Del Campos de; Foresti,Fausto; Oliveira,Claudio; Wasko,Adriane P..
In order to extend the genetic data on the Sciaenidae fish family, the present study had the purpose to characterize PCR-generated 5S rDNA repeats of twelve species of this group through PAGE (Polyacrylamide Gel Electrophoresis) analysis. The results showed the occurrence of at least two different 5S rDNA size classes in all the species. Moreover, 5S rDNA repeats of one of the studied species - Isopisthus parvipinnis - were cloned and subjected to nucleotide sequencing and Southern blot membrane hybridization analyses, which permitted to confirm the existence of two major 5S rDNA classes. Phylogenetic analysis based on the nucleotide sequences of different 5S rDNA repeats of I. parvipinnis lead to their separation into two major clusters. These results may...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Sciaenidae; Fish; Isopisthus parvipinnis; 5S rDNA; Molecular markers.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000200025
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A biogeographical population genetics perspective of the colonization of cats in Latin America and temporal genetic changes in Brazilian cat populations Genet. Mol. Biol.
Ruiz-García,Manuel; Alvarez,Diana.
We used nine morphological genes to analyze cat populations from Mexico, the Dominican Republic, the Colombian, Brazilian and Peruvian Amazon, Bolivia and Brazil. Most populations were in Hardy-Weinberg equilibrium at the O locus. The highest allele frequencies so far detected at world level for alleles I (inhibitor) and L (long hair) were found at La Paz (Bolivia). The analyses revealed at least five cat gene pools in Latin America: These findings suggest that the current genetic distribution of cats in Latin America correlates with the colonization of the Americas during the XIV to XVIII centuries. Additionally, the cat populations of São Paulo, Rio de Janeiro and Manaus were sampled, to compare their 1996-2003 genetic profiles with those obtained in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Domestic cats; Latin American cats; Population genetics; Genetic changes.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400026
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A brief history of fish genetics in Brazil Genet. Mol. Biol.
Foresti,Fausto.
Tipo: Info:eu-repo/semantics/other
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000200038
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A canonical correlation analysis of the association between carcass and ham traits in pigs used to produce dry-cured ham Genet. Mol. Biol.
Ventura,Henrique T.; Lopes,Paulo S.; Peloso,José V.; Guimarães,Simone E.F.; Carneiro,Antonio Policarpo S.; Carneiro,Paulo L.S..
The association between carcass and ham traits in a pig population used to produce dry-cured ham was studied using canonical correlation analysis. The carcass traits examined were hot carcass weight (HCW), backfat thickness (BT) and loin depth (LD), and the ham traits studied were gross ham weight (GHW), trimmed ham weight (THW), ham inner layer fat thickness (HIFT), ham outer layer fat thickness (HOFT), pH (pH) and the Göfo value. Carcass and ham traits are not independent. The canonical correlations (r) between the carcass and ham traits at 130 kg were 0.77, 0.24 and 0.20 for the first, second and third canonical pair, respectively, and were all significant (p < 0.01) by the Wilks test. The corresponding canonical correlations between the three...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Canonical correlation; Carcass; Ham; Pig.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300014
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A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound Genet. Mol. Biol.
Gollop,Thomaz Rafael; Salzo,Ivan.
Fetal hydantoin syndrome (FHS) is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase), vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral...
Tipo: Info:eu-repo/semantics/article
Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000200002
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A comparison of metrics for estimating phylogenetic signal under alternative evolutionary models Genet. Mol. Biol.
Diniz-Filho,José Alexandre F.; Santos,Thiago; Rangel,Thiago Fernando; Bini,Luis Mauricio.
Several metrics have been developed for estimating phylogenetic signal in comparative data. These may be important both in guiding future studies on correlated evolution and for inferring broad-scale evolutionary and ecological processes (e.g., phylogenetic niche conservatism). Notwithstanding, the validity of some of these metrics is under debate, especially after the development of more sophisticated model-based approaches that estimate departure from particular evolutionary models (i.e., Brownian motion). Here, two of these model-based metrics (Blomberg's K-statistics and Pagel's λ) are compared with three statistical approaches [Moran's I autocorrelation coefficient, coefficients of determination from the autoregressive method (ARM), and phylogenetic...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Autocorrelation; Blomberg's K; Pagel's lambda; Autoregressive method; Moran's I; Phylogenetic eigenvector regression.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400019
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A comparison of the effects of physical and chemical mutagens in sesame (Sesamum indicum L.) Genet. Mol. Biol.
Begum,Tamina; Dasgupta,Tapash.
Three sesame genotypes (Rama, SI 1666 and IC 21706) were treated with physical (γ-rays: 200 Gy, 400 Gy or 600 Gy) or chemical (ethyl methane sulphonate, EMS: 0.5%, 1.0%, 1.5% or 2.0%) mutagens and their mutagenic effectiveness and efficiency were estimated in the M2 generation. The M3 generation was used to identify the most effective mutagen and dose for induction of mutations. The average effectiveness of EMS was much higher than γ-rays. The lowest dose of γ-rays (200 Gy) and the lowest concentration of EMS (0.5%) showed the highest mutagenic efficiency in all genotypes. Analysis of the M3 generation data based on parameters such as the variance ratio and the difference in residual variances derived from the model of Montalván and Ando indicated that...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Effectiveness; Efficiency; Mutagens; Quantitative characters; Sesame.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400025
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A comparison of the hygienic response of Africanized and European (Apis mellifera carnica) honey bees to Varroa-infested brood in tropical Brazil Genet. Mol. Biol.
Aumeier,Pia; Rosenkranz,Peter; Gonçalves,Lionel Segui.
In order to examine the significance of hygienic behavior for the tolerance to varroosis of Africanized honey bees, they were compared with non-tolerant Carniolans in tropical Brazil. Capped worker brood cells were artificially infested with living Varroa mites, and inspected some days later. Uncapping, disappearance of the introduced mite and removal of the pupa were recorded in a total of manipulated 3,096 cells during three summer seasons. The hygienic response varied between Africanized and Carniolan colonies, but this difference was significant only in one year, during which Africanized honey bees removed a significantly greater proportion of Varroa mites than European honey bees. A high proportion of the mites disappeared from artificially infested...
Tipo: Info:eu-repo/semantics/article
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000400013
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A comprehensive transcriptome analysis of skeletal muscles in two Polish pig breeds differing in fat and meat quality traits Genet. Mol. Biol.
Piórkowska,Katarzyna; Żukowski,Kacper; Ropka-Molik,Katarzyna; Tyra,Mirosław; Gurgul,Artur.
Abstract Pork is the most popular meat in the world. Unfortunately, the selection pressure focused on high meat content led to a reduction in pork quality. The present study used RNA-seq technology to identify metabolic process genes related to pork quality traits and fat deposition. Differentially expressed genes (DEGs) were identified between pigs of Pulawska and Polish Landrace breeds for two the most important muscles (semimembranosus and longissimus dorsi). A total of 71 significant DEGs were reported: 15 for longissimus dorsi and 56 for semimembranosus muscles. The genes overexpressed in Pulawska pigs were involved in lipid metabolism (APOD, LXRA, LIPE, AP2B1, ENSSSCG00000028753 and OAS2) and proteolysis (CST6, CTSD, ISG15 and UCHL1). In Polish...
Tipo: Info:eu-repo/semantics/article Palavras-chave: RNA-seq; Firmness; Fat content; Polish pigs.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100125
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A critical evaluation of the effect of population size and phenotypic measurement on QTL detection and localization using a large F2 murine mapping population Genet. Mol. Biol.
Li,Xinmin; Quigg,Richard J; Zhou,Jian; Xu,Shizhong; Masinde,Godfred; Mohan,Subburaman; Baylink,David J..
Population size and phenotypic measurement are two key factors determining the detection power of quantitative trait loci (QTL) mapping. We evaluated how these two controllable factors quantitatively affect the detection of QTL and their localization using a large F2 murine mapping population and found that three main points emerged from this study. One finding was that the sensitivity of QTL detection significantly decreased as the population size decreased. The decrease in the percentage logarithm of the odd score (LOD score, which is a statistical measure of the likelihood of two loci being lied near each other on a chromosome) can be estimated using the formula 1 - n/N, where n is the smaller and N the larger population size. This empirical formula has...
Tipo: Info:eu-repo/semantics/article Palavras-chave: QTL mapping; Mice; Detection power; Population size; Phenotypic measurement.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100030
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A cytological study of the O5 chromosomal inversion of Drosophila subobscura (Diptera, Drosophilidae) Genet. Mol. Biol.
Mestres,Francesc; Figueras,Maria Teresa; Serra,Luís.
The O5 chromosomal inversion has been a cornerstone for understanding different aspects of the American colonization by Drosophila subobscura. To obtain more information of this evolutionary event it is important to know the pattern of bands of this inversion in detail. Comparing this pattern with that of D. melanogaster it is possible to predict which genes are located inside or close to the O5 inversion and use them as genetic markers. In this study, the complete band pattern of the O5 inversion is presented. Furthermore, the most important genes located inside it have been predicted. Finally, a constriction located close to the proximal breakage point of the O5 inversion has been observed many times and its possible genetic significance is discussed.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Drosohila subobscura; Chromosomal inversion; Colonization; Lethal genes.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400007
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A cytosolic class II small heat shock protein, PfHSP17.2, confers resistance to heat, cold, and salt stresses in transgenic Arabidopsis Genet. Mol. Biol.
Zhang,Lu; Hu,Weijuan; Gao,Yike; Pan,Huitang; Zhang,Qixiang.
Abstract We cloned and characterized the full-length coding sequence of a small heat shock (sHSP) gene, PfHSP17.2, from Primula forrestii leaves following heat stress treatment. Homology and phylogenetic analysis suggested that PfHSP17.2 is a cytosolic class II sHSP, which was further supported by the cytosolic localization of transient expression of PfHSP17.2 fused with green fluorescent protein reporter. Expression analysis showed that PfHSP17.2 was highly inducible by heat stress in almost all the vegetative and generative tissues and was expressed under salt, cold, and oxidative stress conditions as well. Moreover, the expression of PfHSP17.2 in P. forrestii was detected in certain developmental growth stages. Transgenic Arabidopsis thaliana...
Tipo: Info:eu-repo/semantics/article Palavras-chave: SHSPs; Stress tolerance; Arabidopsis.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400649
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A deterministic simulation study of embryo marker-assisted selection for age at first calving in Nellore (Bos indicus) beef cattle Genet. Mol. Biol.
Rosa,Artur J.M.; Bijma,Piter; Oliveira,Henrique N.; Lôbo,Raysildo B.; van Arendonk,Johan A.M..
We used deterministic simulation of four alternative multiple ovulation and embryo manipulation (MOET) closed nucleus schemes to investigate the benefits of using marker-assisted selection (MAS) of Nellore (Bos indicus) beef cattle embryos prior to transplantation to reduce the age at first calving (AFC). We found that MAS resulted in increased genetic gain as compared to selection without AFC quantitative trait loci (AFC-QTL) information. With single-stage selection the genetic response (GR) increased as follows: GR = 0.68% when the AFC-QTL explained 0.02 of the AFC additive genetic variance (sigma2A); GR = 1.76% for AFC-QTL explaining 0.05 sigma2A; GR = 3.7% for AFC-QTL explaining 0.1 sigma2A; and GR = 55.76% for AFC-QTL explaining 0.95 sigma2A. At the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Age at first calving; Beef cattle; Marker-assisted selection; Pre-selection; Quantitative trait loci.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400008
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A Floricaula/Leafy gene homolog is preferentially expressed in developing female cones of the tropical pine Pinus caribaea var. caribaea Genet. Mol. Biol.
Dornelas,Marcelo Carnier; Rodriguez,Adriana Pinheiro Martinelli.
In angiosperms, flower formation is controlled by meristem identity genes, one of which, FLORICAULA (FLO)/LEAFY (LFY), plays a central role. It is not known if the formation of reproductive organs of pre-angiosperm species is similarly regulated. Here, we report the cloning of a conifer (Pinus caribaea var. caribaea) FLO/LFY homolog, named PcLFY. This gene has a large C-terminal region of high similarity to angiosperm FLO/LFY orthologs and shorter regions of local similarity. In contrast to angiosperms, conifers have two divergent genes resembling LFY. Gymnosperm FLO/LFY proteins constitute a separate clade, that can be divided into two divergent groups. Phylogenetic analysis of deduced protein sequences has shown that PcLFY belongs to the LFY-like clade....
Tipo: Info:eu-repo/semantics/article Palavras-chave: LEAFY; Plant reproduction; Development; Gene expression; Flowering.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200021
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A genetic algorithm for the ligand-protein docking problem Genet. Mol. Biol.
Magalhães,Camila S. de; Barbosa,Hélio J.C.; Dardenne,Laurent E..
We analyzed the performance of a real coded "steady-state" genetic algorithm (SSGA) using a grid-based methodology in docking five HIV-1 protease-ligand complexes having known three-dimensional structures. All ligands tested are highly flexible, having more than 10 conformational degrees of freedom. The SSGA was tested for the rigid and flexible ligand docking cases. The implemented genetic algorithm was able to dock successfully rigid and flexible ligand molecules, but with a decreasing performance when the number of ligand conformational degrees of freedom increased. The docked lowest-energy structures have root mean square deviation (RMSD) with respect to the corresponding experimental crystallographic structure ranging from 0.037 Å to 0.090 Å in the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Ligand-protein docking; Flexible docking; Genetic algorithms.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400022
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A genetic framework for flowering-time pathways in Citrus spp. Genet. Mol. Biol.
Dornelas,Marcelo Carnier; Camargo,Raquel Luciana Boscariol; Figueiredo,Luciana Harumi Morimoto; Takita,Marco Aurélio.
Floral transition is one the most drastic changes occurring during the life cycle of a plant. The shoot apical meristem switches from the production of leaves with associated secondary shoot meristems to the production of flower meristems. This transition is abrupt and generally irreversible, suggesting it is regulated by a robust gene regulatory network capable of driving sharp transitions. The moment at which this transition occurs is precisely determined by environmental and endogenous signals. A large number of genes acting within these pathways have been cloned in model herbaceous plants such as Arabidopsis thaliana. In this paper, we report the results of our search in the Citrus expressed sequence tag (CitEST) database for expressed sequence tags...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Reproductive development; Flowering-time genes; Reproduction; Photoperiod; CONSTANS.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000500006
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A genomic analysis of disease-resistance genes encoding nucleotide binding sites in Sorghum bicolor Genet. Mol. Biol.
Cheng,Xiao; Jiang,Haiyang; Zhao,Yang; Qian,Yexiong; Zhu,Suwen; Cheng,Beijiu.
A large set of candidate nucleotide-binding site (NBS)-encoding genes related to disease resistance was identified in the sorghum (Sorghum bicolor) genome. These resistance (R) genes were characterized based on their structural diversity, physical chromosomal location and phylogenetic relationships. Based on their N-terminal motifs and leucine-rich repeats (LRR), 50 non-regular NBS genes and 224 regular NBS genes were identified in 274 candidate NBS genes. The regular NBS genes were classified into ten types: CNL, CN, CNLX, CNX, CNXL, CXN, NX, N, NL and NLX. The vast majority (97%) of NBS genes occurred in gene clusters, indicating extensive gene duplication in the evolution of S. bicolor NBS genes. Analysis of the S. bicolor NBS phylogenetic tree revealed...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bioinformatics; Disease resistance gene; Nucleotide binding site; Sorghum bicolor.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200016
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A genomic approach to characterization of the Citrus terpene synthase gene family Genet. Mol. Biol.
Dornelas,Marcelo Carnier; Mazzafera,Paulo.
Terpenes are a very large and structurally diverse group of secondary metabolites which are abundant in many essential oils, resins and floral scents. Additionally, some terpenes have roles as phytoalexins in plant-pathogen relationships, allelopathic inhibitors in plant-plant interactions, or as airborne molecules of plant-herbivore multitrophic signaling. Thus the elucidation of the biochemistry and molecular genetics of terpenoid biosynthesis has paramount importance in any crop species. With this aim, we searched the CitEST database for clusters of expressed sequence tags (ESTs) coding for terpene synthases. Herein is a report on the identification and in silico characterization of 49 putative members of the terpene synthase family in diverse Citrus...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Secondary metabolism; Flavor; Aroma; Plant protection; Terpene synthesis.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000500011
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A genomic approach to elucidating grass flower development Genet. Mol. Biol.
Dornelas,Marcelo C.; Rodriguez,Adriana P.M..
In sugarcane (Saccharum sp) as with other species of grass, at a certain moment of its life cycle the vegetative meristem is converted into an inflorescence meristem which has at least two distinct inflorescence branching steps before the spikelet meristem terminates in the production of a flower (floret). In model dicotyledonous species such successive conversions of meristem identities and the concentric arrangement of floral organs in specific whorls have both been shown to be genetically controlled. Using data from the Sugarcane Expressed Sequence Tag (EST) Project (SUCEST) database, we have identified all sugarcane proteins and genes putatively involved in reproductive meristem and flower development. Sequence comparisons of known flower-related genes...
Tipo: Info:eu-repo/semantics/article
Ano: 2001 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572001000100011
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