Asunto(s)
Carcinoma de Células Escamosas/genética , ADN Helicasas/genética , Predisposición Genética a la Enfermedad , Queratosis/genética , Esclerodermia Localizada/genética , Neoplasias Cutáneas/genética , Adulto , Carcinoma de Células Escamosas/patología , Células Cultivadas , Femenino , Fibroblastos , Haploinsuficiencia , Humanos , Isoenzimas/genética , Queratinocitos , Queratosis/patología , Masculino , Persona de Mediana Edad , Linaje , Polimorfismo de Nucleótido Simple , Cultivo Primario de Células , Esclerodermia Localizada/patología , Piel/citología , Piel/patología , Neoplasias Cutáneas/patología , Secuenciación Completa del Genoma , Adulto JovenRESUMEN
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.
