title: Expression analysis of human intersectin 2 gene (ITSN2) minor splice variants showing differential expression in normal human brain.
abstract: Human intersectins 1 and 2 (ITSN1 and ITSN2) are conserved proteins involved in clathrin-mediated endocytosis. In both, two major splice variants, the so-called long and short isoforms have been identified. Whereas most analyses so far focussed on ITSN1, little is known about ITSN2. Data from expression analyses for the intersectin genes mainly refer to the major isoforms. Only recently have a few minor splice variants of ITSN2 been described, though no detailed analyses of their expression in different tissues have been performed. Using RT-PCR-studies we analyzed ITSN2 minor splice variants and their expression in an adult tissue panel. Thereby we demonstrated at least one new minor variant lacking exon 7. Differential expression was demonstrated for a previously described minor splice variant including exon 16 (ITSN2C) with a relative increase in adult human brain tissue. Additional comparative expression analyses in oligodendrogliomas furthermore revealed differential expression with lack of this specific minor splice variant in the brain tumor tissue. These results indicate that ITSN2C may be specifically expressed in neurons hinting to a physiologic role in neuronal cell function.
authors: Department of Human Genetics, Saarland University Hospital, Homburg, Saar, Germany. hgmsei@uniklinik-saarland.de
authors: Markus
authors: M
authors: Seifert
authors: Christina
authors: C
authors: Ampofo
authors: Yasmin
authors: Y
authors: Mehraein
authors: Jörg
authors: J
authors: Reichrath
authors: Cornelius
authors: C
authors: Welter
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000096:biosynthesis* / Q000235:genetics; D001921:Brain / Q000378:metabolism* / Q000502:physiology; D001932:Brain Neoplasms / Q000235:genetics / Q000378:metabolism*; D045744:Cell Line, Tumor; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics / Q000378:metabolism; D009837:Oligodendroglioma / Q000235:genetics / Q000378:metabolism; D020033:Protein Isoforms; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; C509776:ITSN2 protein, human; D020033:Protein Isoforms