title: Sequence comparisons and functional studies of the proximal promoter of the carbonic anhydrase 3 (CA3) gene.
abstract: Carbonic anhydrase 3 (CA3) is a member of a gene family encoding proteins which catalyse the hydration of CO2 to generate protons and bicarbonate ions for cellular ion transport and pH homeostasis. In mouse embryos CA3 is expressed at high levels in notochord and skeletal muscle and here we demonstrate that this pattern of expression is the same in the developing human embryo. To investigate mechanisms controlling CA3 transcription, we have isolated and compared 2.8kb of sequence flanking exon 1 from the mouse and human genes. Several segments of high sequence identity >80% have been identified, the longest segments of which represent a proximal promoter region and a putative enhancer element. We have shown previously that in cultured cells the human 2.8kb promoter region imposes high level myogenic specific transcription of a reporter gene. However, we now show that while this promoter region directed muscle-specific expression in transgenic mouse embryos this was subject to position effects.
authors.affiliation: MRC Human Biochemical Genetics Unit, University College London, Wolfson House, 4 Stephenson Way, London, NW1 2HE, UK.
authors.forename: J
authors.initials: J
authors.lastname: Sowden
authors.forename: H
authors.initials: H
authors.lastname: Smith
authors.forename: K
authors.initials: K
authors.lastname: Morrison
authors.forename: Y
authors.initials: Y
authors.lastname: Edwards
mesh_terms: D000818:Animals; D001483:Base Sequence; D002256:Carbonic Anhydrases / Q000235:genetics*; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005314:Embryonic and Fetal Development / Q000235:genetics / Q000502:physiology; D005091:Exons; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D017403:In Situ Hybridization; D007438:Introns; D007763:Lac Operon; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000196:embryology / Q000201:enzymology; D009672:Notochord / Q000196:embryology / Q000201:enzymology; D011401:Promoter Regions, Genetic; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity
chemical_list: D017931:DNA Primers; D004247:DNA; D002256:Carbonic Anhydrases