title: Cloning and mutation analysis of the human potassium channel KCNQ2 gene promoter.
abstract: Benign familial neonatal convulsions (BFNC) have been previously found to be associated with mutations within the coding region of KCNQ2. We have now cloned and analyzed the promoter region of the human KCNQ2 gene. 5'-RACE identified a transcription start site (TSS) located 200 bp upstream of the ATG start codon. The TSS is located close to a repetitive region containing seven copies of a degenerate 42-mer repeat. Several different luciferase (LUC) reporter plas- mids containing fragments from the KCNQ2 5'-flanking region were constructed and expressed in NT2N and SH-SY5Y cell lines. A core promoter region was found to be located between bp 20 and bp 74 upstream of the TSS. Neither the promoter region nor the repetitive region showed any mutations in 13 index patients from unrelated BFNC families.
authors.affiliation: Institute of Human Genetics, University Hospital Bonn, Wilhelmstr. 31, D-53111 Bonn, Germany.
authors.forename: J F
authors.initials: JF
authors.lastname: Xiao
authors.forename: C
authors.initials: C
authors.lastname: Fischer
authors.forename: O K
authors.initials: OK
authors.lastname: Steinlein
authors.forename: X
authors.initials: X
authors.lastname: JianFeng
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D000200:Action Potentials / Q000235:genetics*; D000818:Animals; D001483:Base Sequence / Q000235:genetics; D001921:Brain / Q000378:metabolism* / Q000503:physiopathology; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D020936:Epilepsy, Benign Neonatal / Q000235:genetics* / Q000503:physiopathology; D017930:Genes, Reporter / Q000235:genetics; D005820:Genetic Testing; D005822:Genetic Vectors / Q000235:genetics; D006801:Humans; D051658:KCNQ2 Potassium Channel; D008156:Luciferases / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D014158:Transcription, Genetic / Q000235:genetics; D014162:Transfection; D014407:Tumor Cells, Cultured
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D008156:Luciferases