RESUMO
We describe the molecular characterization of a novel human gene on chromosome 1q23.3, termed KAT, which is highly conserved among mammals. The KAT gene spans a genomic region of approximately 1.6 kilobases and consists of 4 exons encoding a 115 amino acid protein with a molecular mass of about 12.5 kDa. The gene is expressed in several human tissues, including kidney, liver, skeletal muscle, heart, colon, thymus, spleen, placenta and lung. We identified an alternatively spliced form, lacking exon 2, in human and mouse tissues. In silico analysis of expressed sequence tags, derived from different types of human tumors, revealed another splice variant. This transcript is characterized by retention of the third intron, leading to a truncated translation product. The KAT protein is localized around the nuclear membranes. It was found to be expressed in several breast, colon and lung carcinoma cell lines, but not in normal breast epithelial cell lines. In addition, KAT protein was detected in invasive ductal carcinoma, but not in adjacent tissues. This suggests a role of this gene in tumorigenesis.
Assuntos
Cromossomos Humanos Par 1/genética , Proteínas de Ligação a DNA , Proteínas de Neoplasias/genética , Neoplasias/genética , Processamento Alternativo , Sequência de Aminoácidos , Sequência de Bases , Carcinoma Ductal de Mama/metabolismo , Moléculas de Adesão Celular/genética , Linhagem Celular Tumoral , Frequência do Gene , Genes , Humanos , Dados de Sequência Molecular , Proteínas de Neoplasias/biossíntese , Neoplasias/metabolismo , Membrana Nuclear/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Receptores de Superfície Celular/genética , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Homologia de Sequência de Aminoácidos , Fatores de Transcrição/genética , Sítio de Iniciação de Transcrição , Fatores Estimuladores UpstreamRESUMO
UNLABELLED: The IGMS is a comprehensive information system that combines the knowledge from genomic sequence, genetic map and genetic disorders databases. This system is updated weekly and focuses on the analysis of EST data. The IGMS identifies UniGene clusters that are differentially expressed in different types of cancer with respect to different reference tissues. The results can be combined with clinical data to asses the potential relevance of specific genes for patient survival or metastatic spread. The second application maps EST with a specific expression profile. Our third application generates a database of alternative splice forms for nine organisms from EST and mRNA sequence data. The results can be used to find splicing patterns specific for certain tissues or tumour types. AVAILABILITY: http://www.bioinf.mdc-berlin.de/igms/.
