RESUMO
The mud shrimp, Upogebia major is a gonochoristic species with distinct sexual dimorphism; however, the male has the "ovarian part of testis" in the gonad and mature-looking eggs appear in a similar reproductive cycle to the female. Vitellogenesis of U. major was investigated focusing on the characterization of vitellogenin (Vg) gene expression and Vg processing. Vg cDNA cloned by PCR-based methods was 7,799 bp-long, encoding 2,568 amino acids in a single open reading frame. The deduced amino acid sequence shared common characteristics conserved in other shrimp Vgs. The Vg gene was expressed in the hepatopancreas of females and males, the ovary, and the ovarian part of testis. Vitellins (Vns) were detected in the gonads of both females and males as three prominent polypeptides with apparent molecular masses of 82 kDa, 100 kDa, and 115 kDa. N-terminal amino acid sequences determined for the three polypeptides were present in the deduced amino acid sequence, demonstrating that they derived from a single long Vg polypeptide. Immunoblot analysis using polyclonal antibodies raised against two Vns (82 kDa and 100 kDa) confirmed Vg processing in the hepatopancreas, in the hemolymph and possibly in the oocytes, similarly in both sexes.
Assuntos
Decápodes/genética , Decápodes/metabolismo , Regulação da Expressão Gênica , Processamento de Proteína Pós-Traducional , Caracteres Sexuais , Vitelogênese/genética , Vitelogeninas/genética , Vitelogeninas/metabolismo , Sequência de Aminoácidos , Animais , Clonagem Molecular , DNA Complementar/genética , Decápodes/anatomia & histologia , Decápodes/citologia , Feminino , Hemolinfa/metabolismo , Hepatopâncreas/metabolismo , Masculino , Dados de Sequência Molecular , Oócitos/metabolismo , Vitelogeninas/químicaAssuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 16/genética , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/genética , Piperazinas/uso terapêutico , Proteínas Proto-Oncogênicas c-kit/genética , Pirimidinas/uso terapêutico , Benzamidas , Éxons , Humanos , Mesilato de Imatinib , Leucemia Mieloide Aguda/diagnóstico , Masculino , Pessoa de Meia-Idade , Mutação , Neoplasia Residual , Recidiva , Indução de RemissãoRESUMO
AML1-MTG8 generated by t(8;21) contributes to leukemic transformation, but additional events are required for full leukemogenesis. We examined whether mutations in the receptor tyrosine kinase (RTK) pathway could be the genetic events that cause acute myeloblastic leukemia (AML) harboring t(8;21). Mutations in the second tyrosine kinase domain, juxtamembrane (JM) domain and exon 8 of the C-KIT gene were observed in 10, one and three of 37 AML patients with t(8;21), respectively. Three patients showed an internal tandem duplication in the JM domain of the FLT3 gene. One patient had a mutation in the K-Ras gene at codon 12. As the occurrence of these mutations was mutually exclusive, a total of 18 (49%) patients showed mutations in the RTK pathway. These results suggest that activating mutations in the RTK pathway play a role in part as an additional event leading to the development of t(8;21) AML. The 6-year cumulative incidence of relapse in patients with RTK pathway mutations was 79.8%, compared with 13.5% in patients lacking such mutations (P=0.0029). Furthermore, the 6-year relapse-free survival in patients with mutations was 18% compared to 60% in those without mutations (P=0.0340), indicating that RTK mutations are associated with the clinical outcome in t(8;21) AML.
Assuntos
Leucemia Mieloide Aguda/genética , Mutação , Receptores Proteína Tirosina Quinases/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Cromossomos Humanos Par 21 , Cromossomos Humanos Par 8 , Intervalo Livre de Doença , Feminino , Genes ras , Humanos , Leucemia Mieloide Aguda/etiologia , Leucemia Mieloide Aguda/mortalidade , Masculino , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas c-kit/genética , Receptores Proteína Tirosina Quinases/metabolismo , Recidiva , Sequências de Repetição em Tandem , Translocação Genética , Resultado do Tratamento , Tirosina Quinase 3 Semelhante a fmsAssuntos
Leucemia Mieloide Aguda/enzimologia , Leucemia Mieloide Aguda/genética , Mutação de Sentido Incorreto , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética , Substituição de Aminoácidos , Ativação Enzimática/genética , Humanos , Tirosina Quinase 3 Semelhante a fmsAssuntos
Proteínas de Ciclo Celular/genética , Metilação de DNA , Regulação Leucêmica da Expressão Gênica , Leucemia Mieloide Aguda/genética , Proteínas Supressoras de Tumor/genética , Adulto , Inibidor de Quinase Dependente de Ciclina p15 , Humanos , Leucemia Mieloide Aguda/mortalidade , Leucemia Mieloide Aguda/patologia , Valor Preditivo dos Testes , Transcrição GênicaRESUMO
Point mutations of the transcription factor AML1 are associated with leukemogenesis in acute myeloblastic leukemia (AML). Internal tandem duplications (ITDs) in the juxtamembrane domain and mutations in the second tyrosine kinase domain of the Fms-like tyrosine kinase 3 (FLT3) gene represent the most frequent genetic alterations in AML. However, such mutations per se appear to be insufficient for leukemic transformation. To evaluate whether both AML1 and FLT3 mutations contribute to leukemogenesis, we analyzed mutations of these genes in AML M0 subtype in whom AML1 mutations were predominantly observed. Of 51 patients, eight showed a mutation in the Runt domain of the AML1 gene: one heterozygous missense mutation with normal function, five heterozygous frameshift mutations and two biallelic nonsense or frameshift mutations, resulting in haploinsufficiency or complete loss of the AML1 activities. On the other hand, a total of 10 of 49 patients examined had the FLT3 mutation. We detected the FLT3 mutation in five of eight (63%) patients with AML1 mutation, whereas five of 41 (12%) without AML1 mutation showed the FLT3 mutation (P=0.0055). These observations suggest that reduced AML1 activities predispose cells to the acquisition of the activating FLT3 mutation as a secondary event leading to full transformation in AML M0.
Assuntos
Proteínas de Ligação a DNA/genética , Mutação da Fase de Leitura , Leucemia Mieloide Aguda/genética , Proteínas de Neoplasias , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética , Fatores de Transcrição/genética , Transformação Celular Neoplásica/genética , Subunidade alfa 2 de Fator de Ligação ao Core , Regulação Leucêmica da Expressão Gênica , Humanos , Polimorfismo Conformacional de Fita Simples , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Tirosina Quinase 3 Semelhante a fmsRESUMO
A case of facial palsy was reported initially in 1974 by Murayama as one of the neurological manifestations in Kawasaki disease. Thereafter, an additional nine case have been documented in Japan. This facial palsy, in the revised "Diagnostic Guideline of Kawasaki Disease" released in 1984, has been added recently as one of the neurological signs and symptoms of Kawasaki disease. This is a report on two cases of Kawasaki disease showing facial palsy with indurative oedema during their clinical course, and also a clinical review of the ten previously reported cases of facial palsy complicating Kawasaki disease.
