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Cloning of a human homologue of the mouseTctex-5 gene within theMHC class I region

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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 theHLA-A andHLA-F loci. In this paper, we report the study of one of the corresponding genes, referred to asHCG V (hemochromatosis candidate gene), localized 150 kb centromeric toHLA-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 mouseTctex-5 gene (t complex, testis expressed) localized in the t complex on chromosome 17. TheHCG V gene was assessed as a potential candidate for hemochromatosis in regard to its localization in the linkage disequilibrium area betweenHFE 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 chnolade thatHCG V is unlikely to be involved in the pathogenesis of hemochromatosis.

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Authors and Affiliations

  1. Department of Biochemistry and Molecular Biology UPR 41 CNRS “Recombinaisons génétiques”, Faculté de Médecine, 2 avenue du Professeur Léon Bernard, 35043, Rennes cedex, France

    Thierry Giffon, Maïna Lepourcelet, Laurent Pichon, Pascal Jezequel, Pascale Bouric, Gwenaelle Carn, Jean-Yves Le Gall & Veronique David

  2. CIGH, UPR 8291 CNRS, CHU Purpan, 31300, Toulouse, France

    Pierre Pontarotti

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  1. Thierry Giffon
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  2. Maïna Lepourcelet
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  3. Laurent Pichon
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  4. Pascal Jezequel
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  5. Pascale Bouric
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  6. Gwenaelle Carn
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  7. Pierre Pontarotti
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  8. Jean-Yves Le Gall
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  9. Veronique David
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Giffon, T., Lepourcelet, M., Pichon, L. et al. Cloning of a human homologue of the mouseTctex-5 gene within theMHC class I region. Immunogenetics 44, 331–339 (1996). https://doi.org/10.1007/BF02602777

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  • DOI: https://doi.org/10.1007/BF02602777

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