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/metabolismoRESUMO
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 AminoácidosRESUMO
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 ZincoRESUMO
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 SequênciaRESUMO
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/metabolismoRESUMO
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.