title: Cloning of a human homologue of the mouse Tctex-5 gene within the MHC class I region.
abstract: Using a positional cloning strategy to identify the hemochromatosis gene (HFE), we isolated seven cDNAs by cDNA selection from a region of 400 kilobases (kb) located near the HLA-A and HLA-F loci. In this paper, we report the study of one of the corresponding genes, referred to as HCG V (hemochromatosis candidate gene), localized 150 kb centromeric to HLA-A. This gene was found to be expressed ubiquitously in the form of a 1.8 kb transcript, and to be apparently well conserved during evolution. The gene spanned 3.1 kb and is organized in three exons and two introns. The cDNA of 1620 base pairs (bp) showed an open reading frame of 378 bp, encoding for a 126 amino acid polypeptide which displayed a strong identity with the predicted product of a mouse Tctex-5 gene (t complex, testis expressed) localized in the t complex on chromosome 17. The HCG V gene was assessed as a potential candidate for hemochromatosis in regard to its localization in the linkage disequilibrium area between HFE and polymorphic markers. The study of deletions and point mutations in hemochromatosis patients revealed a single bp polymorphism within the coding region; however, no associated disease changes were found. Therefore we conclude that HCG V is unlikely to be involved in the pathogenesis of hemochromatosis.
authors.affiliation: Department of Biochemistry and Molecular Biology, UPR 41 CNRS "Recombinaisons génétiques", Faculté de Médecine, 2 avenue du Professeur Léon Bernard, 35043 Rennes cedex, France.
authors.forename: T
authors.initials: T
authors.lastname: Giffon
authors.forename: M
authors.initials: M
authors.lastname: Lepourcelet
authors.forename: L
authors.initials: L
authors.lastname: Pichon
authors.forename: P
authors.initials: P
authors.lastname: Jezequel
authors.forename: P
authors.initials: P
authors.lastname: Bouric
authors.forename: G
authors.initials: G
authors.lastname: Carn
authors.forename: P
authors.initials: P
authors.lastname: Pontarotti
authors.forename: J Y
authors.initials: JY
authors.lastname: Gall
authors.forename: V
authors.initials: V
authors.lastname: David
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002503:Centromere / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005805:Genes, MHC Class I; D006432:Hemochromatosis / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D015810:Linkage Disequilibrium; D051379:Mice / Q000235:genetics; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D016366:Open Reading Frames; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D044767:Ubiquitin-Protein Ligases; D056427:t-Complex Genome Region
chemical_list: D018076:DNA, Complementary; D047908:Intracellular Signaling Peptides and Proteins; D008869:Microtubule-Associated Proteins; D009687:Nuclear Proteins; C116196:PPP1R11 protein, human; D044767:Ubiquitin-Protein Ligases