SABIIA - Sistema Aberto e Integrado de Informação em Agricultura (Sabiia)

A new single nucleotide polymorphism in the ryanodine gene of chicken skeletal muscle.

Xia,H.; Ye,J.; Wang,L.; Zhu,J.; He,Z..

Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made. DNA sequence analysis revealed the infant to be compound heterozygous with two mutations, c.738dupG in exon 8 of GSS gene resulting in p.S247fs and a repetitive sequence in exon 3 of GSS gene. Treatment after diagnosis of GSSD...

Tipo: Info:eu-repo/semantics/report

Palavras-chave: Glutathione synthetase; 5-oxoprolinuria; Newborn; Metabolism; Mutation.

Ano: 2018

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300501

A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia

DROVAL, A. A.; BINNECK, E.; MARIN, S. R. R.; PAIÃO, F. G.; OBA, A.; NEPOMUCENO, A. L.; SHIMOKOMAKI, M..

Some genes affect meat quality in chickens. We looked for polymorphisms in the Gallus gallus α-RyR gene (homologous to RyR 1) that could be associated with PSE (pale, soft and exudative) meat. Because RyR genes are over 100,000 bp long and code for proteins with about 5000 amino acids, primers were designed to amplify a fragment of hotspot region 2, a region with a high density of mutations in other species. Total blood DNA was extracted from 50 birds, 25 that had PSE meat and 25 normal chickens. The DNA samples were amplified by PCR, cloned, sequenced, and used to identify single nucleotide polymorphisms (SNPs). The amplified fragment of α-RyR was 604 nucleotides in length; 181 nucleotides were similar to two exons from a hypothetical...

Tipo: Separatas

Palavras-chave: Mutação; Genética; Carne; Qualidade; Mutation; Genetics; Meat quality.

Ano: 2012

URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/941757

Genet. Mol. Biol.

Shotelersuk,Vorasuk; Jaruratanasirikul,Somchit; Sinthuwiwat,Thivaratana; Janjindamai,Waricha.

Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X...

A Trp574Leu Target-Site Mutation Confers Imazamox Resistance in Multiple Herbicide-Resistant Wild Poinsettia Populations from Brazil.

Palavras-chave: SOX9; Campomelic dysplasia; Mutation.

Ano: 2006

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007

Amplification of 9q34 in childhood adrenocortical tumors: a specific feature unrelated to ethnic origin or living conditions

MENDES, R. R.; TAKANO, H. K.; OLIVEIRA JUNIOR, R. S.; ADEGAS, F. S.; GAINES, T. A.; DAYAN, F. E..

Tipo: Artigo de periódico

Palavras-chave: Herbicida; Euphorbia Heterophylla; Mutação; Resistência a Pesticida; Acetolactate synthase; Mutation; Herbicide resistance.

Ano: 2020

URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/1129252

Figueiredo,B.C.; Ribeiro,R.C.; Zambetti,G.; Haddad,B.; Pianovsky,M.D.; Pereira,R.M.; DeLacerda,L.; Sandrini,R..

Adrenocortical tumors (ACT) in children under 15 years of age exhibit some clinical and biological features distinct from ACT in adults. Cell proliferation, hypertrophy and cell death in adrenal cortex during the last months of gestation and the immediate postnatal period seem to be critical for the origin of ACT in children. Studies with large numbers of patients with childhood ACT have indicated a median age at diagnosis of about 4 years. In our institution, the median age was 3 years and 5 months, while the median age for first signs and symptoms was 2 years and 5 months (N = 72). Using the comparative genomic hybridization technique, we have reported a high frequency of 9q34 amplification in adenomas and carcinomas. This finding has been confirmed more...

An in silico approach for the antigenic mutation and immune memory.

Palavras-chave: Adrenocortical carcinoma; Cancer; Mutation; 9q34 amplification.

Ano: 2000

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000012

Avaliação e aplicação de métodos de genotipagem para estudo da síndrome da musculatura dupla em bovinos da raça Senepol.

CASTRO, A. de; FRONZA, C. F.; ALVES, D..

The this article we studied in machina an approach to simulate the process of antigenic mutation. Our results have suggested that the durability of the immune memory is affected by process of antigenic mutation and by populations of soluble antibodies favors the global maintenance of immune memory.

Tipo: Anais e Proceedings de eventos

Palavras-chave: Memória imunológica; Modelo computacional; Mutação; Immunologic memory; Mutation; Models.

Ano: 2009

URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/580039

Characteristics of hospitalized children infected with macrolide-resistant Mycoplasma pneumoniae

URQUIZA, A. da S. C..

Em várias raças de bovinos de corte é observada a síndrome da musculatura dupla, caracterizada pela presença do fenótipo de hipertrofia muscular, sendo esta uma condição hereditária e controlada pelo gene GDF-8 (Growth Differentiation Factor-8). Em bovinos da raça Senepol, a mutação nt821, localizada no exon III deste gene, é responsável por esta síndrome. Neste contexto, os objetivos deste trabalho foram avaliar três metodologias de genotipagem desta mutação, com o intuito de verificar qual a mais adequada em relação a custo/benefício e verificar a associação do alelo mutado com características de interesse econômico em touros jovens da raça Senepol. Foram extraídos DNA genômico de amostras biológicas de 17 bezerros, sendo sete com o fenótipo da...

Tipo: Teses

Palavras-chave: Gene GDF-8; Sequenciamento; Selection; Hipertrofia muscular; Mutação; Seleção; Gado de corte; Fenotipo; Mutation; Sequence analysis.

Ano: 2017

URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/1082405

BJID

Komatsu,Haruki; Tsunoda,Tomoyuki; Inui,Ayano; Sogo,Tsuyoshi; Fujisawa,Tomoo.

BACKGROUND: The aim of this study was to clarify retrospectively the characteristics of children hospitalized for respiratory tract infection caused by macrolide-resistant Mycoplasma pneumoniae (M. pneumoniae).METHODS: Children who were hospitalized for respiratory tract infection due to M. pneumoniae were enrolled in this study. The diagnosis of M. pneumoniae infection was made on the grounds of polymerase chain reaction results.RESULTS: Thirty-three children were hospitalized due to lower respiratory tract infection with M. pneumoniae. Of the 33 children, 31 (median age five years) were identified as being infected with macrolide-resistant M. pneumoniae (A2063G:30, A2064G:1) by sequence analysis. Of the 31 children infected with macrolide-resistant M....

Clavulanic acid production by the MMS 150 mutant obtained from wild type Streptomyces clavuligerus ATCC 27064

Palavras-chave: Antibiotics; Minocycline; Mutation; Young children.

Ano: 2014

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702014000300294

BJM

Vasconcelos,Eliton da Silva; Lima,Vanderlei Aparecido de; Goto,Leandro Seiji; Cruz-Hernández,Isara Lourdes; Hokka,Carlos Osamu.

Clavulanic acid (CA) is a powerful inhibitor of the beta-lactamases, enzymes produced by bacteria resistants to penicillin and cefalosporin. This molecule is produced industrially by strains of Streptomyces clavuligerus in complex media which carbon and nitrogen resources are supplied by inexpensive compounds still providing high productivity. The genetic production improvement using physical and chemical mutagenic agents is an important strategy in programs of industrial production development of bioactive metabolites. However, parental strains are susceptible to loss of their original productivity due genetic instability phenomenona. In this work, some S. clavuligerus mutant strains obtained by treatment with UV light and with MMS are compared with the...

Contribution of flagella and motility to gut colonisation and pathogenicity of Salmonella Enteritidis in the chicken

Palavras-chave: Clavulanic acid; Streptomyces clavuligerus; Mutation; Lipase.

Ano: 2013

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822013000400005

BJM

Barbosa,Fernanda de Oliveira; Freitas Neto,Oliveiro Caetano de; Batista,Diego Felipe Alves; Almeida,Adriana Maria de; Rubio,Marcela da Silva; Alves,Lucas Bocchini Rodrigues; Vasconcelos,Rosemeire de Oliveira; Barrow,Paul Andrew; Berchieri Junior,Angelo.

ABSTRACT Salmonella Enteritidis causes fowl paratyphoid in poultry and is frequently associated to outbreaks of food-borne diseases in humans. The role of flagella and flagella-mediated motility into host-pathogen interplay is not fully understood and requires further investigation. In this study, one-day-old chickens were challenged orally with a wild-type strain Salmonella Enteritidis, a non-motile but fully flagellated (SE ΔmotB) or non-flagellated (SE ΔfliC) strain to evaluate their ability to colonise the intestine and spread systemically and also of eliciting gross and histopathological changes. SE ΔmotB and SE ΔfliC were recovered in significantly lower numbers from caecal contents in comparison with Salmonella Enteritidis at early stages of...

Detection of somatic mutations of the PIG-A gene in Brazilian patients with paroxysmal nocturnal hemoglobinuria

Palavras-chave: Mutation; Flagellum; Virulence factors; Poultry; Gut colonisation.

Ano: 2017

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822017000400754

Franco de Carvalho,R.; Arruda,V.R.; Saad,S.T.O.; Costa,F.F..

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal syndrome characterized by intravascular hemolysis mediated by complement, thrombotic events and alterations in hematopoiesis. Basically, the molecular events which underlie the complexity of the syndrome consist of the absence of the glycosylphosphatidylinositol (GPI) anchor as a consequence of somatic mutations in the PIG-A gene, located on the X chromosome. The GPI group is responsible for the attachment of many proteins to the cytoplasmic membrane. Two of them, CD55 and CD59, have a major role in the inhibition of the action of complement on the cellular membrane of blood cells. The absence of GPI biosynthesis can lead to PNH. Since mutations in the PIG-A gene are always present in patients...

Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib

Palavras-chave: Paroxysmal nocturnal hemoglobinuria; Intravascular hemolysis; Complement PIG-A; Mutation.

Ano: 2001

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000600010

Genet. Mol. Biol.

Carlin,Marcelo Paschoalete; Scherrer,Daniel Zanetti; Tommaso,Adriana Maria Alves De; Bertuzzo,Carmen Silvia; Steiner,Carlos Eduardo.

Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the latter is associated with impaired glucose-6-phosphate transporter, where the catalytic unit of G6Pase is located. Over 85 mutations have been reported since the cloning of G6PC and SLC37A4 genes. In this study, twelve unrelated patients with clinical symptoms suggestive of GSDIa and Ib were investigated by using genetic sequencing of G6PC and SLC37A4 genes, being three confirmed as having GSD Ia, and two with GSD Ib. In seven of these patients no mutations...

Tipo: Info:eu-repo/semantics/other

Palavras-chave: DNA-based diagnosis; Glycogen storage disease; G6PC; SLC37A4; Mutation.

Ano: 2013

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400007

Effects of β-glucan polysaccharide revealed by the dominant lethal assay and micronucleus assays, and reproductive performance of male mice exposed to cyclophosphamide

Genet. Mol. Biol.

Oliveira,Rodrigo Juliano; Pesarini,João Renato; Salles,Maria José Sparça; Kanno,Tatiane Yumi Nakamura; Lourenço,Ana Carolina dos Santos; Leite,Véssia da Silva; Silva,Ariane Fernanda da; Matiazi,Hevenilton José; Ribeiro,Lúcia Regina; Mantovani,Mário Sérgio.

β-glucan is a well-known polysaccharide for its chemopreventive effect. This study aimed to evaluate the chemopreventive ability of β-glucan in somatic and germ cells through the dominant lethal and micronucleus assays, and its influence on the reproductive performance of male mice exposed to cyclophosphamide. The results indicate that β-glucan is capable of preventing changes in DNA in both germ cells and somatic ones. Changes in germ cells were evaluated by the dominant lethal assay and showed damage reduction percentages of 46.46% and 43.79% for the doses of 100 and 150 mg/kg. For the somatic changes, evaluated by micronucleus assay in peripheral blood cells in the first week of treatment, damage reduction percentages from 80.63-116.32% were found. In...

Enzyme activity and thermostability of a non-specific nuclease from Yersinia enterocolitica subsp. palearctica by site-directed mutagenesis

Palavras-chave: Mutation; Post-implantation losses; Chemoprevention; Micronucleus; Nulliparous females.

Ano: 2014

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000100017

Electron. J. Biotechnol.

Zhang,Yu; Li,Zhen-Hua; Zheng,Wei; Tang,Zhen-Xing; Zhang,Zhi-Liang; Shi,Lu-E.

Background: To identify the critical amino acid residues that contribute to the high enzyme activity and good thermostability of Yersinia enterocolitica subsp. palearctica (Y. NSN), 15 mutants of Y. NSN were obtained by site-directed mutagenesis in this study. And their enzyme activity and thermostability were assayed. Effect of several factors on the enzyme activity and thermostability of Y. NSN, was also investigated. Results: The results showed that the I203F and D264E mutants retained approximately 75% and 70% enzyme activity, respectively, compared to the wild-type enzyme. In addition to the I203F and D264E mutants, the mutant E202A had an obvious influence on the thermostability of Y. NSN. According to the analysis of enzyme activity and...

Tipo: Journal article

Palavras-chave: Factors affecting enzyme activity; Nuclease; Mutation; Mutagenesis; Nucleases without sequence specificity.

Ano: 2016

URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582016000600005

Epidermal growth factor receptor (EGFR) mutations in lung cancer: preclinical and clinical data

Jorge,S.E.D.C.; Kobayashi,S.S.; Costa,D.B..

Lung cancer leads cancer-related mortality worldwide. Non-small-cell lung cancer (NSCLC), the most prevalent subtype of this recalcitrant cancer, is usually diagnosed at advanced stages, and available systemic therapies are mostly palliative. The probing of the NSCLC kinome has identified numerous nonoverlapping driver genomic events, including epidermal growth factor receptor (EGFR) gene mutations. This review provides a synopsis of preclinical and clinical data on EGFR mutated NSCLC and EGFR tyrosine kinase inhibitors (TKIs). Classic somatic EGFR kinase domain mutations (such as L858R and exon 19 deletions) make tumors addicted to their signaling cascades and generate a therapeutic window for the use of ATP-mimetic EGFR TKIs. The latter inhibit these...

Estudo da herança e descrição de um mutante para coloração de frutos do tomateiro.

Palavras-chave: Mutation; Lung cancer; Non-small-cell lung cancer; EGFR; EGFR inhibitor; Precision therapies; Resistance.

Ano: 2014

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001100929

Factor 9 de crecimiento y diferenciación asociado al índice de prolificidad en la oveja pelibuey.

COSTA, M. R.; MALUF, W. R.; GOMES, L. A. A..

Tipo: Artigo de periódico

Palavras-chave: Lycopersicon Esculentum; Mutação Hereditária; Tomate; Variação Genética; Variedade.; Genetic variation; Mutation; Tomatoes; Varieties..

Ano: 1999

URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/400415

Colegio de Postgraduados

Pérez Ruíz, Elizabeth.

El Factor 9 de Crecimiento y Diferenciación (GDF9) es miembro de la súperfamilia β de factores de crecimiento (TGFβ) y su expresión en el ovocito es esencial para el desarrollo y crecimiento folicular. Diferentes mutaciones en el gen GDF9 han sido asociadas con el incremento de tasa de ovulación y/o prolificidad en algunas razas de ovejas, por lo que el objetivo de este estudio fue la búsqueda de polimorfismos de una sola base (SNPs) en el gen GDF9, así como la asociación entre polimorfismos del gen GDF9 y el índice de prolificidad en ovejas de la raza Pelibuey. Se tomaron muestras sanguíneas de la vena yugular de 16 ovejas y fueron conservadas en papel FTA® (Whatman Mini Card). El exón dos del gen fue amplificado mediante la técnica de Polimerase Chain...

Palavras-chave: Análisis de secuencias; GDF9; Mutación; Polimorfismo; PCR; SNP; Sequence analysis; Mutation; Polymorphism; Maestría; Ganadería.

Ano: 2012

URL: http://hdl.handle.net/10521/1712

Feijoeiro (Phaseolus vulgaris L.) transgênico contendo um mutante do gene REP apresenta resistência ao vírus do mosaico dourado.

Freqüência de aberrações cromossômicas em bovinos normais e em bovinos anormais.

FARIA, J. C.; ALBINO, M. M. C.; DIAS, B. B. A.; VIANNA, M. G. R.; ARAGÃO, F. J. L..

Tbe rep gene of Bean golden mosaic virus (BGMV) is essential for virus replication, and rep gene rnutations with amino acid codons cbanges in the putative NTP-binding rnotif D262R (MI) was created. Phaseolus vulgaris rransforrnation was achieved with a helium driven particle acceleration device. Tbe vector contained the bar gene [resistance to arnmonium glyphosinate (AG)] and besides the rep gene mutant. A total of J 7 initial - R(O) - transformants were analyzed. From the R(O) plant M1/4, which had mutation MI, six progeny plants with resistance to AG were obtained, and four remained BGMV symptomless after inoculation. From tbese four plants, a total progeny of 127 R(2) plants were inoculated. Of the 35 progenies of plant M 1/4/l, only three plants showed...

Tipo: Parte de livro

Palavras-chave: BGMV; Tolerância; Biobalística; Transformação; Feijão; Mosaico Dourado; Phaseolus Vulgaris; Vírus; Bean golden mosaic virus; Mutation.

Ano: 2001

URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/209188