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1.
Leukemia ; 22(7): 1368-76, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18480837

RESUMO

To explore the gene expression signature in essential thrombocythemia (ET) patients in relation to JAK2V617F mutational status, expression profiling in circulating granulocytes was performed. Twenty ET were studied by microarray analysis and the results were confirmed by real-time quantitative RT-PCR in 40 ET patients, not receiving cytoreductive treatment. A heterogeneous molecular signature characterized by two main gene expression patterns was found: one with an upregulation of inflammatory genes related to neutrophil activation and thrombosis, and the other with significantly lower expression of these genes. Supervised clustering analysis showed 30 genes differentially expressed between JAK2V617F-negative and JAK2V617F-positive ET patients. Among the JAK2V617F-negative, a set of 14 genes (CISH, C13orf18, CCL3, PIM1, MAFF, SOCS3, ID2, GADD45B, KLF5, TNF, LAMB3, HRH4, TAGAP and TRIB1) showed an abnormal expression pattern. In this group of patients, CISH, SOCS2, SOCS3 and PIM1 genes, all involved in JAK-STAT signalling pathway, presented a lower expression. A two-gene predictor model was built comprising FOSB and CISH genes, which were the best discriminators of JAK2V617F status. In conclusion, JAK2V617F-negative ET patients present a characteristic gene expression profile, different from JAK2V617F-positive patients. Other pathways, besides JAK-STAT, might be implicated in the pathophysiology of JAK2V617F-negative ET patients.


Assuntos
Perfilação da Expressão Gênica , Janus Quinase 2/genética , Mutação , Trombocitemia Essencial/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fatores de Transcrição STAT/fisiologia , Transdução de Sinais
2.
DNA Seq ; 12(1): 67-9, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11697146

RESUMO

We have isolated C15orf5, a novel human gene lacking homology to any known protein. The C15orf5 gene encodes a transcript of 1,519 nt with an ORF of 94 amino acids and a predicted protein size of 11.5 kDa. Northern blot analysis showed enhanced expression of C15orf5 in heart. C15orf5 was mapped to chromosome 15q23-q24 using the Stanford TNG4 Radiation Hybrid panel.


Assuntos
Cromossomos Humanos Par 15/genética , Miocárdio/metabolismo , Sequência de Bases , Mapeamento Cromossômico , DNA Complementar/genética , Humanos , Dados de Sequência Molecular , Fases de Leitura Aberta , Proteínas/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
3.
Gene ; 278(1-2): 33-40, 2001 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-11707320

RESUMO

We describe PALML, a novel gene encoding a 551 amino acid protein with similarity to paralemmin and the paralemmin-like amino terminal domain of AKAP2, a protein kinase A anchor protein. PALML mRNA is expressed in many tissues and is most abundant in cardiac and skeletal muscle, while absent from brain and blood. Exogenously expressed PALML fusion protein has a widespread cytoplasmic localization, and it is excluded from the nucleus. Human PALML maps on human chromosome 1p21 (between D1S2767 and D1S223). SSCP-HD analysis of exonic sequences in patients with VUR (familial non-syndromic vesicoureteral reflux syndrome) excluded mutations in the PALML gene from causing this disease. PALML, paralemmin and AKAP2 share the presence of a conserved coiled coil region that may mediate protein interactions with shared partners. Based on its resemblance to paralemmin and AKAP2, PALML is hypothesized to be involved in regulating intracellular signaling and membrane-cytoskeletal interactions.


Assuntos
Cromossomos Humanos Par 1/genética , Proteínas de Membrana/genética , Sequência de Aminoácidos , Animais , Northern Blotting , Western Blotting , Células COS , Mapeamento Cromossômico , Citoplasma/metabolismo , DNA Complementar/química , DNA Complementar/genética , Feminino , Expressão Gênica , Genes/genética , Humanos , Masculino , Camundongos , Dados de Sequência Molecular , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo , Análise de Sequência de DNA , Homologia de Sequência , Homologia de Sequência de Aminoácidos , Distribuição Tecidual
4.
Biochim Biophys Acta ; 1517(2): 298-301, 2001 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-11342112

RESUMO

We have identified a novel human gene, UBXD1, on chromosome 19p13, which encodes a putative protein containing a UBX domain. Expression analysis showed an enhanced presence in testis. We identified the corresponding orthologous genes in mouse and rat. The characterization of UBXD1 has allowed us to define a new class of UBX domain-containing proteins conserved during evolution.


Assuntos
Cromossomos Humanos Par 19 , Ubiquitinas/genética , Sequência de Aminoácidos , Animais , Evolução Molecular , Expressão Gênica , Humanos , Masculino , Camundongos , Dados de Sequência Molecular , Alinhamento de Sequência , Testículo/metabolismo
5.
Biochim Biophys Acta ; 1518(1-2): 200-3, 2001 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-11267680

RESUMO

We have characterized a novel human gene, FSD1, on chromosome 19. FSD1 has a BBC, FN3 and SPRY domain, it is distantly related to the midline 1 gene and is expressed only in the brain. We have established its exon-intron structure and we have identified the corresponding orthologous genes in other species. In addition, the identification of FSD1 has led us to identify a homologous counterpart sequence on chromosome 9.


Assuntos
Cromossomos Humanos Par 19 , Proteínas do Tecido Nervoso/genética , Proteínas/genética , Processamento Alternativo , Sequência de Aminoácidos , Animais , Sequência de Bases , Encéfalo/metabolismo , Encéfalo/patologia , DNA Complementar , Éxons , Fibronectinas/genética , Perfilação da Expressão Gênica , Humanos , Íntrons , Camundongos , Dados de Sequência Molecular , Proteínas do Tecido Nervoso/metabolismo , Proteínas/metabolismo , Homologia de Sequência de Aminoácidos
6.
Gene ; 262(1-2): 199-205, 2001 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-11179684

RESUMO

Pacsins are cytoplasmic adapter proteins with an N-terminal FHC, a central coiled coil, and a C-terminal SH3 domain and several potential phosphorylation sites. Two murine Pacsin genes have been reported to date: Pacsin 1 (equivalent to rat Syndapin I), and Pacsin 2 (like rat Syndapin II and chicken focal adhesion protein FAP52). Rat syndapins have been well characterized as part of a synapse dynamin-associated protein complex involved in endocytosis and actin dynamics. Here we describe PACSIN 3, a third member of the pacsin gene family in humans and mice, which encodes a 424 amino acid cytoplasmic protein and has a ubiquitously expressed mRNA. Intracellular distribution was assessed by overexpression of exogenous tagged pacsin 3 protein. In addition, we report the cDNA sequence of human PACSIN 1, a gene encoding a 444 amino acid protein and its chromosome assignment to 6p21. PACSIN 1 mRNA is most abundant in brain, and is also present in heart, pancreas and liver. The close sequence conservation between the three pacsin gene products suggests they could be performing similar functions participating in the different tissues where these are expressed.


Assuntos
Proteínas de Transporte/genética , Citoplasma/metabolismo , Fosfoproteínas/genética , Domínios de Homologia de src , Proteínas Adaptadoras de Transdução de Sinal , Sequência de Aminoácidos , Animais , Proteínas de Transporte/metabolismo , Cromossomos Humanos Par 6 , Clonagem Molecular , Proteínas do Citoesqueleto , Regulação da Expressão Gênica , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Camundongos , Dados de Sequência Molecular , Fosfoproteínas/metabolismo , Homologia de Sequência de Aminoácidos
7.
Gene ; 262(1-2): 275-81, 2001 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-11179693

RESUMO

Working within the EUROIMAGE full-length cDNA sequencing project we have isolated BTBD1, a novel human gene with a BTB/POZ domain. This motif is found in developmentally regulated zinc finger proteins and in the kelch family of actin-associated proteins, and is thought to mediate protein-protein interactions. The BTBD1 gene encodes a transcript of 3188 nt with an ORF of 482 amino acids and a predicted protein product size of 52.7 kDa. Northern blot analysis revealed an enhanced BTBD1 expression in heart and skeletal muscle. We have identified a paralogous BTBD1 counterpart gene on chromosome 19, BTBD2. BTBD1 was mapped to chromosome 15q24. Conservation of multiple pairs of genes between 15q24 and 19p13.3-p12 suggests their possible common chromosomal origin. We show the existence of the murine BTBD1 and BTBD2 orthologous genes, as well as the partial rat and bovine homologs.


Assuntos
Cromossomos Humanos Par 15 , Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genética , Sequência de Aminoácidos , Animais , Cromossomos Humanos Par 19 , Clonagem Molecular , Proteínas de Ligação a DNA/metabolismo , Etiquetas de Sequências Expressas , Regulação da Expressão Gênica , Coração/fisiologia , Humanos , Camundongos , Dados de Sequência Molecular , Músculo Esquelético/fisiologia , Estrutura Terciária de Proteína , Homologia de Sequência de Aminoácidos , Fatores de Transcrição/metabolismo , Dedos de Zinco
8.
Genome Res ; 11(1): 98-111, 2001 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11156619

RESUMO

Several cytogenetic alterations affect the distal part of the long arm of human chromosome 15, including recurrent rearrangements between 12p13 and 15q25, which cause congenital fibrosarcoma (CFS). We present here the construction of a BAC/PAC contig map that spans 2 Mb from the neurotrophin-3 receptor (NTRK3) gene region on 15q25.3 to the proximal end of the Bloom's syndrome region on 15q26.1, and the identification of a set of new chromosome 15 duplicons. The contig reveals the existence of several regions of sequence similarity with other chromosomes (6q, 7p, and 12p) and with other 15q cytogenetic bands (15q11-q13 and 15q24). One region of similarity maps on 15q11-q13, close to the Prader-Willi/Angelman syndromes (PWS/AS) imprinting center. The 12p similar sequence maps on 12p13, at a distance to the ets variant 6 (ETV6) gene that is equivalent on 15q26.1 to the distance to the NTRK3 gene. These two genes are the targets of the CFS recurrent translocations, suggesting that misalignments between these two chromosomes regions could facilitate recombination. The most striking similarity identified is based on a low copy repeat sequence, mainly present on human chromosome 15 (LCR15), which could be considered a newly recognized duplicon. At least 10 copies of this duplicon are present on chromosome 15, mainly on 15q24 and 15q26. One copy is located close to a HERC2 sequence on the distal end of the PWS/AS region, three around the lysyl oxidase-like (LOXL1) gene on 15q24, and three on 15q26, one of which close to the IQ motif containing GTPase-activating protein 1 (IQGAP1) gene on 15q26.1. These LCR15 span between 13 and 22 kb and contain high identities with the golgin-like protein (GLP) and the SH3 domain-containing protein (SH3P18) gene sequences and have the characteristics of duplicons. Because duplicons flank chromosome regions that are rearranged in human genomic disorders, the LCR15 described here could represent new elements of rearrangements affecting different regions of human chromosome 15q.


Assuntos
Cromossomos Humanos Par 15/genética , Genes Duplicados , Sequência de Bases , Cromossomos Humanos Par 12/genética , Cromossomos Humanos Par 6/genética , Cromossomos Humanos Par 7/genética , Mapeamento de Sequências Contíguas , Humanos , Hibridização in Situ Fluorescente , Dados de Sequência Molecular , Recombinação Genética , Sequências Repetitivas de Ácido Nucleico , Homologia de Sequência do Ácido Nucleico
9.
DNA Seq ; 12(2): 91-6, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11761714

RESUMO

We have identified C15orf4, a novel human gene showing homology to the yeast mitochondrial ribosomal protein YmL30. C15orf4 encodes a transcript of 1,006 nt with an ORF of 279 amino acids and a predicted protein size of 31.7 kDa. Expression of C15orf4 is enriched in testis. C15orf4 was positioned to chromosome 15q24 by radiation hybrid mapping. We have identified the C15orf4 mouse orthologue as well as homologues in other species.


Assuntos
Proteínas Mitocondriais/genética , Proteínas Ribossômicas/genética , Sequência de Aminoácidos , Mapeamento Cromossômico , Clonagem Molecular , Genes Fúngicos , Humanos , Dados de Sequência Molecular , Especificidade de Órgãos , Alinhamento de Sequência , Homologia de Sequência
10.
Eur J Hum Genet ; 9(11): 860-6, 2001 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11781704

RESUMO

The Na+-dependent amino acid transporter named ATB(0) was previously found to be located in 19q13.3 by fluorescence in situ hybridisation. Genetic heterogeneity in the 19q13.2-13.4 region, syntenic to the Cystic Fibrosis Modulator Locus 1 (CFM1) in mouse, seemed to be associated to the intestinal phenotypic variation of cystic fibrosis (CF). We performed fine chromosomal mapping of ATB(0) on radiation hybrid (RH) panels G3 and TNG. Based on the most accurate location results from TNG-RH panel, mapping analysis evidenced that ATB(0) is localised between STS SHGC-13875 (D19S995) and STS SHGC-6138 in 19q13.3, that corresponds with the immediately telomeric/distal segment of the strongest linkage region within the human CFM1 (hCFM1) syntenic region. Regarding to the genomic structure and exon organisation, our results show that the ATB(0) gene is organised into eight exons. The knowledge of the genomic structure allowed us to perform an exhaustive mutational analysis of the gene. Evaluation of the possible implication of ATB(0) in the intestinal phenotype of CF was performed on the basis of the functional characteristics of the encoded protein, its apparent relevance to meconium ileus (MI) and position in relation to the hCFM1 syntenic region. We have analysed this gene in samples from CF patients with and without MI. Several sequence variations in the ATB(0) gene were identified, although none of them seemed to be related to the intestinal phenotype of CF. Even though no particular allele or haplotype in ATB(0) appears to be associated to CF-MI disease, new SNPs identified should be useful in segregation and linkage disequilibrium analyses in families affected by other disorders caused by the impairment of neutral amino acid transport.


Assuntos
Sistema ASC de Transporte de Aminoácidos/genética , Fibrose Cística/genética , Alelos , Mapeamento Cromossômico , Cromossomos Humanos Par 19/genética , Fibrose Cística/complicações , Regulador de Condutância Transmembrana em Fibrose Cística/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Éxons , Frequência do Gene , Genes/genética , Genótipo , Humanos , Obstrução Intestinal/complicações , Intestinos/patologia , Íntrons , Mecônio , Antígenos de Histocompatibilidade Menor , Mutação , Fenótipo , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Mapeamento de Híbridos Radioativos
11.
Cytogenet Cell Genet ; 90(3-4): 255-60, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-11124529

RESUMO

As the result of the EUROIMAGE Consortium sequencing project, we have isolated and characterized a novel gene on chromosome 15, TM6SF1. It encodes a 370 amino acid product with enhanced expression in spleen, testis and peripheral blood leukocytes. We have identified another gene, paralogous to TM6SF1 on chromosome 19p12, TM6SF2, with an overall similarity of 68% and 52% identity at the protein level. This conservation has led us to uncover a series of eleven genes in 19p13.3-->p12 with close homology to genes in 15q24--> q26. The percentage of sequence similarity between each paralogous pair of genes at the protein level ranges between 43 and 89%. A partial conservation of synteny with mouse chromosomes 7, 8 and 9 is also observed. The corresponding orthologous genes in mouse of human TM6SF1 and TM6SF2 show a high degree of amino acid sequence conservation.


Assuntos
Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 19/genética , Genes Duplicados/genética , Família Multigênica/genética , Proteínas/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Clonagem Molecular , Sequência Conservada/genética , Éxons/genética , Etiquetas de Sequências Expressas , Humanos , Íntrons/genética , Proteínas de Membrana , Camundongos , Dados de Sequência Molecular , Peso Molecular , Fases de Leitura Aberta/genética , Mapeamento Físico do Cromossomo , Proteínas/química , Sítios de Splice de RNA/genética , RNA Mensageiro/análise , RNA Mensageiro/genética , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos
12.
DNA Seq ; 11(3-4): 335-8, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-11092749

RESUMO

We have isolated C3orf1, a novel gene on human chromosome 3 showing homology to the Drosophila RP140-upstream gene. When mutated, RP140-upstream causes lethality in flies through an unknown mechanism, perhaps by interfering with transcription of the RP140 RNA polymerase subunit. The human C3orf1 gene encodes a predicted membrane protein of 32.2 kDa with four transmembrane domains without any other known motifs. Northern blot analysis showed generalized expression of C3orf1, enhanced in heart and skeletal muscle. EST database searching revealed the existence of a homologue gene in mouse. Thus, the C3orf1 gene is conserved and may perform an essential function in all tissues in mammals.


Assuntos
Cromossomos Humanos Par 3 , Drosophila/genética , Proteínas de Membrana/genética , Sequência de Aminoácidos , Animais , Mapeamento Cromossômico , Sequência Conservada , RNA Polimerases Dirigidas por DNA/genética , Feminino , Humanos , Proteínas de Membrana/química , Camundongos , Proteínas de Transporte da Membrana Mitocondrial , Proteínas do Complexo de Importação de Proteína Precursora Mitocondrial , Dados de Sequência Molecular , Especificidade de Órgãos , Gravidez , Subunidades Proteicas , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos
13.
Cytogenet Cell Genet ; 89(1-2): 92-5, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10894945

RESUMO

We have identified VPS33B, the human ortholog of rat Vps33b. VPS33B encodes a transcript of 2482 nt with an ORF of 617 amino acids and a predicted protein size of 70.6 kDa. VPS33B contains a Sec-1 domain shared with a family of proteins involved in protein sorting and vesicular trafficking. Enriched expression of VPS33B was observed in testis. VPS33B was positioned at chromosome 15q26.1 by radiation hybrid mapping.


Assuntos
Cromossomos Humanos Par 15/genética , Proteínas de Membrana , Proteínas/genética , Sequência de Aminoácidos , Animais , Mapeamento Cromossômico , Clonagem Molecular , Etiquetas de Sequências Expressas , Perfilação da Expressão Gênica , Humanos , Células Híbridas , Escore Lod , Masculino , Dados de Sequência Molecular , Fases de Leitura Aberta/genética , Estrutura Terciária de Proteína , Proteínas/química , RNA Mensageiro/análise , RNA Mensageiro/genética , Ratos , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos , Sitios de Sequências Rotuladas , Testículo/metabolismo , Proteínas de Transporte Vesicular
14.
Cytogenet Cell Genet ; 88(3-4): 330-2, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10828624

RESUMO

We have isolated C15orf3, a novel human gene that lacks homology to any known gene family. The C15orf3 gene encodes a transcript of 1676 nt with an ORF of 187 amino acids and a predicted protein product size of 20.8 kDa. Northern blot analysis showed ubiquitous expression in adult tissues. EST database searching revealed the presence of C15orf3 homologs in rat and mouse. C15orf3 was mapped to chromosome 15q21.1-->q21.2 using the Stanford G3 radiation hybrid panel.


Assuntos
Proteínas E1A de Adenovirus , Cromossomos Humanos Par 15/genética , Fases de Leitura Aberta/genética , Proteínas/genética , Sequência de Aminoácidos , Animais , Proteínas de Ciclo Celular , Mapeamento Cromossômico , Clonagem Molecular , Etiquetas de Sequências Expressas , Perfilação da Expressão Gênica , Humanos , Células Híbridas , Escore Lod , Camundongos , Dados de Sequência Molecular , Peso Molecular , Proteínas Nucleares , Proteínas/química , RNA Mensageiro/análise , RNA Mensageiro/genética , Ratos , Proteínas Repressoras , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos
15.
Cytogenet Cell Genet ; 88(1-2): 62-7, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10773667

RESUMO

The HMG box encodes a conserved DNA binding domain found in many proteins and is involved in the regulation of transcription and chromatin conformation. We describe HMG20A and HMG20B, two novel human HMG box-containing genes, discovered within the EURO-IMAGE Consortium full-length cDNA sequencing initiative. The predicted proteins encoded by these two genes are 48.4% identical (73.9% within the HMG domain). The HMG domain of both HMG20 proteins is most similar to that of yeast NHP6A (38% to 42%). Outside of this domain, HMG20 proteins lack any significant homology to other known proteins. We determined the genomic structure and expression pattern of HMG20A and HMG20B. Both genes have several alternative transcripts, expressed almost ubiquitously. HMG20A maps to chromosome 15q24 (near D15S1227) and HMG20B to 19p13.3 (between D19S209 and D19S216). The HMG20 genes define a distinct class of mammalian HMG box genes.


Assuntos
Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 19/genética , Proteínas de Ligação a DNA , Perfilação da Expressão Gênica , Proteínas de Grupo de Alta Mobilidade/genética , Ubiquitinas/química , Ubiquitinas/genética , Processamento Alternativo/genética , Motivos de Aminoácidos , Sequência de Aminoácidos , Sequência de Bases , Clonagem Molecular , Sequência Conservada/genética , Éxons/genética , Etiquetas de Sequências Expressas , Proteínas de Grupo de Alta Mobilidade/química , Humanos , Hibridização in Situ Fluorescente , Íntrons/genética , Escore Lod , Dados de Sequência Molecular , Mapeamento Físico do Cromossomo , RNA Mensageiro/análise , RNA Mensageiro/genética , Alinhamento de Sequência
16.
Dev Genes Evol ; 209(1): 48-58, 1999 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9914418

RESUMO

The mechanism of early dorso-ventral axis specification in zebrafish embryos is not well understood. While beta-catenin has been clearly implicated as a determinant of the axis, the factors upstream and downstream of beta-catenin in this system are not defined. Unlike in Xenopus, where a sperm-induced cortical rotation is used to localize beta-catenin on the future dorsal side of the embryo, zebrafish do not have an obviously similar morphogenetic movement. Recently, a GSK-3 (Glycogen Synthase Kinase-3) binding protein (GBP) was identified as a novel member of the Wnt pathway required for maternal dorsal axis formation in Xenopus. GBP stabilizes beta-catenin levels by inhibiting GSK-3 and potentially provides a link between cortical rotation and beta-catenin regulation. Since zebrafish may use a different mechanism for regulating beta-catenin, we asked whether zebrafish also express a maternal GBP. We report the isolation of the zebrafish GBP gene and show that it is maternally expressed and is present as mRNA ubiquitously throughout early embryonic development. Over-expression of zebrafish GBP in frogs and fish leads to hyper-dorsalized phenotypes, similar to the effects resulting from over-expression of beta-catenin, indicating that components upstream of beta-catenin are conserved between amphibians and teleosts. We also examined whether Tcf (T cell factor) functions in zebrafish embryos. As in frogs, ectopic expression of a dominant negative form of XTcf-3 ventralizes zebrafish embryos. In addition, ectopic beta-catenin expression activates the promoter of the Tcf-dependent gene siamois, indicating that the step immediately downstream of beta-catenin is also conserved between fish and frogs.


Assuntos
Padronização Corporal , Proteínas Proto-Oncogênicas/genética , Transativadores , Proteínas de Peixe-Zebra , Peixe-Zebra/genética , Sequência de Aminoácidos , Animais , Northern Blotting , Proteínas Quinases Dependentes de Cálcio-Calmodulina , Proteínas de Transporte/isolamento & purificação , Comunicação Celular/genética , Sequência Conservada , Proteínas do Citoesqueleto/farmacologia , Expressão Gênica , Regulação da Expressão Gênica no Desenvolvimento , Genes Reporter , Quinase 3 da Glicogênio Sintase , Quinases da Glicogênio Sintase , Hibridização In Situ , Microinjeções , Mitógenos , Dados de Sequência Molecular , Fosfotransferases , Fatores de Transcrição , Proteínas Wnt , Peixe-Zebra/embriologia , beta Catenina
17.
Cytogenet Cell Genet ; 87(1-2): 85-8, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10640817

RESUMO

We report the sequence, tissue distribution, and chromosome location of a novel gene, PDCD9 (programmed cell death 9). PDCD9 is the mammalian counterpart of the Gallus gallus pro-apoptotic protein p52. The human cDNA has an open reading frame of 1,314 nucleotides and was predicted to encode a protein of 438 amino acids with a calculated mass of 50 kDa. The protein sequences of chicken, mouse, and human PDCD9 are remarkably conserved. PDCD9 mRNA is expressed ubiquitously in adult tissues, displaying a stronger signal in heart, skeletal muscle, kidney, and liver. PDCD9 was mapped to chromosome 5q11.


Assuntos
Proteínas de Ciclo Celular/química , Proteínas de Ciclo Celular/genética , Galinhas/genética , Mapeamento Físico do Cromossomo , Proteínas Virais/química , Sequência de Aminoácidos , Animais , Apoptose/genética , Proteínas de Ciclo Celular/metabolismo , Cromossomos Humanos Par 5/genética , Clonagem Molecular , Sequência Conservada/genética , Etiquetas de Sequências Expressas , Humanos , Hibridização in Situ Fluorescente , Camundongos , Dados de Sequência Molecular , RNA Mensageiro/análise , RNA Mensageiro/genética , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos
18.
Genes Dev ; 11(18): 2359-70, 1997 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-9308964

RESUMO

The Wnt pathway regulates the early dorsal-ventral axis in Xenopus through a complex of beta-catenin and HMG box transcription factors of the Lef/Tcf family. We show that the promoter of the dorsalizing homeo box gene siamois is a direct target for the beta-catenin/XTcf-3 complex, establishing a link between the Wnt pathway and the activation of genes involved in specifying the dorsal axis. By injecting siamois reporter constructs into the animal pole of Xenopus embryos, we show that a 0.8-kb fragment of the siamois promoter is strongly activated by beta-catenin. The proximal 0.5 kb, which is also activated by beta-catenin, contains three Lef/Tcf-binding sites. Mutations in these sites eliminate the beta-catenin-mediated activation of siamois and show that siamois is regulated by the beta-catenin/XTcf-3 complex, in combination with additional transcriptional activators. When expressed at the equator of the embryo, the siamois promoter is activated to much higher levels on the dorsal side than the ventral side. Ectopic ventral expression of beta-catenin raises the ventral expression of the siamois promoter to the dorsal levels. Conversely, ectopic dorsal expression of dominant-negative XTcf-3 abolishes the dorsal activation of the siamois promoter. Furthermore, elimination of the Lef/Tcf sites elevates the ventral expression of siamois, revealing a repressive role for XTcf-3 in the absence of beta-catenin. Finally, we find that the endogenous siamois activator, although present throughout the dorsal side of the embryo, is most potent in the dorsal vegetal region. We propose that the dorsal activation of siamois by the beta-catenin/XTcf-3 complex combined with the ventral repression of siamois by XTcf-3 results in the restriction of endogenous siamois expression to the dorsal side of Xenopus embryos.


Assuntos
Padronização Corporal/genética , Proteínas do Citoesqueleto/genética , Regulação da Expressão Gênica no Desenvolvimento , Proteínas HMGB , Proteínas de Homeodomínio/genética , Transativadores , Fatores de Transcrição/genética , Xenopus laevis/embriologia , Animais , Sequência de Bases , Sítios de Ligação/genética , Proteínas do Citoesqueleto/metabolismo , Dados de Sequência Molecular , Regiões Promotoras Genéticas/genética , Ligação Proteica , Fatores de Transcrição TCF , Fator 3 de Transcrição , Proteína 1 Semelhante ao Fator 7 de Transcrição , Proteínas de Xenopus , beta Catenina
19.
Mech Dev ; 63(1): 15-27, 1997 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9178253

RESUMO

The notochord is required for the differentiation of nearby tissues, including the neural tube and the floor plate. Because the dorsal aorta and axial vein are midline structures, their development might also be influenced by the notochord. To investigate this possibility, we cloned zebrafish VEGR-2, homologous to the earliest known marker of endothelial cells in mammals. In flh and ntl mutant embryos, which lack a notochord, we found a defect in axial blood vessel formation, and a delay in the fusion of VEGR-2 positive endothelial progenitor cells into the primary vascular plexus and a block in the establishment of mature vessels. Differences in the vascular phenotype between the two mutations correlated with the severity of their axial mesodermal defects. These observations support a role for the notochord in vasculogenesis.


Assuntos
Vasos Sanguíneos/embriologia , Notocorda/fisiologia , Receptores Proteína Tirosina Quinases/biossíntese , Receptores de Fatores de Crescimento/biossíntese , Peixe-Zebra/embriologia , Sequência de Aminoácidos , Animais , Vasos Sanguíneos/fisiologia , Diferenciação Celular , Clonagem Molecular , Embrião não Mamífero/fisiologia , Indução Embrionária , Endotélio Vascular/metabolismo , Endotélio Vascular/fisiologia , Regulação da Expressão Gênica no Desenvolvimento , Humanos , Dados de Sequência Molecular , Mutação , Fenótipo , Receptores Proteína Tirosina Quinases/química , Receptores Proteína Tirosina Quinases/genética , Receptores de Fatores de Crescimento/química , Receptores de Fatores de Crescimento/genética , Receptores de Fatores de Crescimento do Endotélio Vascular , Proteínas Recombinantes de Fusão/biossíntese , Proteínas Recombinantes de Fusão/química , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos , Células-Tronco/fisiologia , Peixe-Zebra/genética
20.
Mech Dev ; 52(2-3): 257-64, 1995 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-8541214

RESUMO

Here we report the isolation from a chick limb bud cDNA library of a cDNA that contains the full coding sequence of chicken Dlx-5, a member of the Distal-less (Dlx) family of homeobox-containing genes that encode homeodomains highly similar to that of the Drosophila Distal-less gene, a gene that is required for limb development in the Drosophila embryo. The expression pattern of Dlx-5 in the developing chick limb bud suggests that it may be involved in several aspects of limb morphogenesis. Dlx-5 is expressed in the apical ectodermal ridge (AER) which directs the outgrowth and patterning of underlying limb mesoderm. During early limb development Dlx-5 is also expressed in the mesoderm at the anterior margin of the limb bud and in a discrete group of mesodermal cells at the mid-proximal posterior margin that corresponds to the posterior necrotic zone. These mesodermal domains of Dlx-5 expression roughly correspond to the anterior and posterior boundaries of the progress zone, the group of highly proliferating undifferentiated mesodermal cells underneath the AER that will give rise to the skeletal elements of the limb and associated structures. The AER and anterior and posterior mesodermal domains of Dlx-5 expression are regions in which the homeobox-containing gene Msx-2 is also highly expressed, suggesting that Dlx-5 and Msx-2 might be involved in regulatory networks that control AER activity and demarcate the progress zone. In addition, Dlx-5 is expressed in high amounts by the differentiating cartilaginous skeletal elements of the limb, suggesting it may be involved in regulating the onset of limb cartilage differentiation.


Assuntos
Cartilagem/embriologia , Embrião de Galinha/fisiologia , Ectoderma/fisiologia , Regulação da Expressão Gênica no Desenvolvimento/fisiologia , Genes Homeobox , Biblioteca Genômica , Sequência de Aminoácidos , Animais , Cartilagem/citologia , Diferenciação Celular/genética , Clonagem Molecular , DNA Complementar/genética , Código Genético , Botões de Extremidades , Dados de Sequência Molecular , Homologia de Sequência de Aminoácidos
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