title: Identification of new alternative splice events in the TCIRG1 gene in different human tissues.
abstract: Two transcript variants (TV) of the T cell immune regulator gene 1 (TCIRG1) have already been characterized. TV1 encodes a subunit of the osteoclast vacuolar proton pump and TV2 encodes a T cell inhibitory receptor. Based on the search in dbEST, we validated by RT-PCR six new alternative splice events in TCIRG1 in most of the 28 human tissues studied. In addition, we observed that transcripts using the TV1 transcription start site and two splice forms previously described in a patient with infantile malignant osteopetrosis are also expressed in various tissues of healthy individuals. Studies of these nine splice forms in cytoplasmic RNA of peripheral blood mononuclear cells showed that at least six of them could be efficiently exported from the nucleus. Since various products with nearly ubiquitous tissue distribution are generated from TCIRG1, this gene may be involved in other processes besides immune response and bone resorption.
authors.affiliation: Immunogenetics Division, Pediatrics Department, Universidade Federal de São Paulo (UNIFESP-EPM), São Paulo, Brazil.
authors.forename: Anna S
authors.initials: AS
authors.lastname: Smirnova
authors.forename: Andrey
authors.initials: A
authors.lastname: Morgun
authors.forename: Natalia
authors.initials: N
authors.lastname: Shulzhenko
authors.forename: Ismael D C G
authors.initials: ID
authors.lastname: Silva
authors.forename: Maria
authors.initials: M
authors.lastname: Gerbase-DeLima
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D003593:Cytoplasm / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008969:Molecular Sequence Data; D016366:Open Reading Frames / Q000235:genetics; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D021122:Protein Subunits / Q000737:chemistry / Q000235:genetics*; D012313:RNA / Q000032:analysis / Q000235:genetics; D015203:Reproducibility of Results; D025262:Vacuolar Proton-Translocating ATPases / Q000737:chemistry / Q000235:genetics*
chemical_list: D020033:Protein Isoforms; D021122:Protein Subunits; C472421:TCIRG1 protein, human; D012313:RNA; D025262:Vacuolar Proton-Translocating ATPases