title: Chromosomal localization to 19q13.3, partial genomic structure and 5' cDNA sequence of the human symplekin gene.
abstract: Exon trapping from cosmids mapping to chromosome 19q13.3 yielded 6 exonic sequences that matched the human symplekin gene, which encodes a tight junction-related protein. One exonic sequence identified a 4.0 kb brain cDNA clone, R6E1, which contained 302 bp 5' to the originally reported 3.7 kb symplekin cDNA. A portion of this novel 5' sequence matched an additional trapped exonic sequence which was obtained from the most telomeric cosmid analyzed. The symplekin gene thus lies in a telomeric-to-centromeric direction on 19q13.3. Only three cosmids from a large 19q13.3 contig hybridized with R6E1, thereby assigning the symplekin gene to a 40 kb region immediately telomeric to gene 59 and the DM protein kinase gene. The 5' end of the R6E1 clone has a potential initiation codon with a strong Kozak sequence and Northern blot analysis detected a 4.2 kb signal in most human tissues, indicating that R6E1 may be a complete cDNA sequence. Based on the trapped exonic sequences, twelve exon-intron boundaries were predicted.
authors.affiliation: Department of Pathology (Neuropathology), Massachusetts General Hospital, Charlestown 02129, USA.
authors.forename: K
authors.initials: K
authors.lastname: Ueki
authors.forename: S
authors.initials: S
authors.lastname: Ramaswamy
authors.forename: S J
authors.initials: SJ
authors.lastname: Billings
authors.forename: H W
authors.initials: HW
authors.lastname: Mohrenweiser
authors.forename: D N
authors.initials: DN
authors.lastname: Louis
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000737:chemistry*; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry* / Q000302:isolation & purification; D018076:DNA, Complementary / Q000737:chemistry / Q000302:isolation & purification; D016147:Genes, Tumor Suppressor; D006801:Humans; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D019108:Tight Junctions / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D009687:Nuclear Proteins; D011506:Proteins; C101043:SYMPK protein, human; D004247:DNA