title: Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30.
abstract: Connexins (Cx) are the protein subunits of gap junctions, which play an important role in cell-to-cell communication. We characterized the genomic structure of the human GJB6 gene, encoding connexin 30 (C x 30), and showed that it differs from most connexin-encoding genes. GJB6 presents six different exons, some of which can be alternatively spliced. We also mapped a basal promoter sequence active in a human keratinocyte cell line which responds to the activation of the EGF receptor. One of the non-encoding exons of GJB6, which has been described in brain C x 30 cDNA, was not found in cDNA obtained from human keratinocytes, suggesting tissue-specific splicing.
authors.affiliation: CEA, Service de Génomique Fonctionnelle, et Université d'Evry Val d'Essonne, 2 rue Gaston Crémieux, CP5722, 91057 Evry Cedex, France.
authors.forename: Guilherme Munhoz
authors.initials: GM
authors.lastname: Essenfelder
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Larderet
authors.forename: Gilles
authors.initials: G
authors.lastname: Waksman
authors.forename: Jérôme
authors.initials: J
authors.lastname: Lamartine
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D017398:Alternative Splicing; D001483:Base Sequence; D002460:Cell Line; D000075302:Connexin 30; D017630:Connexins / Q000032:analysis / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D000078404:Epidermal Cells; D004815:Epidermal Growth Factor / Q000494:pharmacology; D004817:Epidermis / Q000378:metabolism; D015870:Gene Expression / Q000187:drug effects; D005796:Genes / Q000235:genetics; D018859:Hair Follicle / Q000737:chemistry; D006801:Humans; D007150:Immunohistochemistry; D015603:Keratinocytes / Q000378:metabolism; D008156:Luciferases / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic; D014162:Transfection
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; D011993:Recombinant Fusion Proteins; D004815:Epidermal Growth Factor; D004247:DNA; D008156:Luciferases