Assuntos
Cardiopatias Congênitas/genética , Deformidades Congênitas dos Membros/genética , Mutação/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 12/genética , Análise Mutacional de DNA , Éxons/genética , Feminino , Testes Genéticos , Variação Genética/genética , Genótipo , Bloqueio Cardíaco/genética , Defeitos dos Septos Cardíacos/genética , Humanos , Íntrons/genética , Masculino , Dados de Sequência Molecular , Linhagem , Fenótipo , Polimorfismo Conformacional de Fita Simples , Sindactilia/genética , SíndromeRESUMO
Brachyury(T) is a mouse mutation, first described over 70 years ago, that causes defects in mesoderm formation. Recently several related genes, the T-box gene family, that encode a similar N-terminal DNA binding domain, the T-box, and that play critical roles in human embryonic development have been identified. It has been shown that human TBX5 and TBX3, if mutated, cause developmental disorders, Holt-Oram syndrome (OMIM 142900) and ulnar-mammary syndrome (OMIM 181450), respectively. We have identified four new human members of the T-box gene family, EOMES, TBX6, TBX18, and TBX19, and these genes have been mapped to different chromosomal regions by radiation hybrid mapping. The four T-box genes were classified into four different subfamilies and have also been subjected to phylogenomic analysis. Human EOMES maps at 3p21.3-p21.2. This Tbr1-subfamily gene is likely to play a significant role in early embryogenesis similar to that described for Xenopus eomesodermin. Human TBX6 maps at 16p12-q12. This Tbx6-subfamily gene is likely to participate in paraxial mesoderm formation and somitogenesis in human embryo. TBX18 is a novel member of the Tbx1 subfamily that maps at 6q14-q15. Two subgroups, TBX1/10 and TBX15/18 subgroups, could be distinguished within the Tbx1 subfamily. TBX19 is an orthologue of chick TbxT and maps at 1q23-q24. The genomic organization of TBX19 is highly similar to that of human T(Brachyury), another human member of the same subfamily.
Assuntos
Cromossomos Humanos Par 16 , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 3 , Cromossomos Humanos Par 6 , Proteínas de Homeodomínio , Família Multigênica , Fatores de Transcrição/genética , Proteínas de Xenopus , Proteínas de Peixe-Zebra , Adulto , Sequência de Aminoácidos , Animais , Mapeamento Cromossômico , Proteínas de Ligação a DNA/genética , Etiquetas de Sequências Expressas , Humanos , Camundongos , Dados de Sequência Molecular , Filogenia , Regiões Promotoras Genéticas , Alinhamento de Sequência , Proteínas com Domínio TRESUMO
Four major proteins are induced in Staphylococcus aureus in response to hyperosmotic shock caused by the presence of two different osmolytes, sucrose and NaCl. The gene encoding one of these proteins was isolated using a novel PCR procedure. The derived protein sequence shows extensive similarity to a subunit of alkyl hydroperoxide reductase (AhpC) from both Escherichia coli and Salmonella typhimurium. Exposure of S. aureus to varying concentrations of H202 did not result in the detectable induction of AhpC.
