title: Identification of a novel isoform predominantly expressed in gastric tissue and a triple-base pair polymorphism of the cathepsin W gene.
abstract: In order to investigate the prevalence of potential polymorphisms of the cathepsin W gene, the complete cDNA of 50 dyspeptic patients was analyzed. From those 37 (74%) revealed the wildtype sequence, 6 samples (12%) contained independent single base pair changes including 4 silent and 2 with amino acid changes. Furthermore, a triple-base pair polymorphism was found in 7 samples (14%, 4x heterozygous, 3x homozygous) leading to the following changes: F(217)S, H(248)Y, and I(250)T. Furthermore, a novel alternative splice variant concerning intron 10 was identified in 6 samples (12%). Notably, this novel isoform was only found in samples of gastric mucosa lymphocytes, whereas peripheral NK cells expressed cathepsin W wildtype only. Taken together, this study demonstrated for the fist time that a genetic variant and a novel isoform of cathepsin W are present in about 14% and 12%, respectively, within the Caucasian population.
authors.affiliation: Department of Gastroenterology, Hepatology and Infectious Diseases, Otto-von-Guericke University Magdeburg, Leipziger Street 44, D-39120 Magdeburg, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Meinhardt
authors.forename: Ulrich
authors.initials: U
authors.lastname: Peitz
authors.forename: Gerhard
authors.initials: G
authors.lastname: Treiber
authors.forename: Skadi
authors.initials: S
authors.lastname: Wilhelmsen
authors.forename: Peter
authors.initials: P
authors.lastname: Malfertheiner
authors.forename: Thomas
authors.initials: T
authors.lastname: Wex
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D056664:Cathepsin W; D002403:Cathepsins / Q000235:genetics*; D003546:Cysteine Endopeptidases / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D003680:Deglutition Disorders / Q000201:enzymology / Q000235:genetics; D005753:Gastric Mucosa / Q000201:enzymology*; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D007694:Killer Cells, Natural / Q000201:enzymology; D008214:Lymphocytes / Q000201:enzymology; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D007527:Isoenzymes; D012333:RNA, Messenger; D002403:Cathepsins; C534187:CTSW protein, human; D056664:Cathepsin W; D003546:Cysteine Endopeptidases