Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. (Articolo in rivista)

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Label
  • Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. (Articolo in rivista) (literal)
Anno
  • 2001-01-01T00:00:00+01:00 (literal)
Alternative label
  • Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR. (2001)
    Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.
    in Human molecular genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR. (literal)
Pagina inizio
  • 2797 (literal)
Pagina fine
  • 2802 (literal)
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  • 10 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Nuffield Department of Clinical Laboratory Sciences, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK; Genome Damage and Stability Centre, School of Biological Sciences, University of Sussex, Brighton BN1 9RR, UK; Duncan Guthrie Institute of Medical Genetics, York Hill Hospital, Glasgow G3 8SJ, UK; University of Edinburgh, Edinburgh, UK; Institute of Child Health, Bristol Royal Hospital for Sick Children, Bristol B32 8BJ, UK; Clinical Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London WC1N 1EH, UK; Istituto per l'Infanzia, Trieste, Italy; Istituto di Genetica, Biochimica ed Evolutionistica CNR, Via Abbiategrasso 207, Pavia, Italy and Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK (literal)
Titolo
  • Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. (literal)
Abstract
  • The transcription factor TFIIH is involved in both basal transcription and DNA repair. Mutations in the XPD helicase component of TFIIH can result in the diverse clinical features associated with xeroderma pigmentosum (XP) and trichothiodystrophy (TTD). It is generally believed that the multi-system abnormalities associated with TTD are the result of a subtle deficiency in basal transcription. However, to date, there has been no clear demonstration of a defect in expression of any specific gene in individuals with these syndromes. Here we show that the specific mutations in XPD that cause TTD result in reduced expression of the beta-globin genes in these individuals. Eleven TTD patients with characterized mutations in the XPD gene have the haematological features of beta-thalassaemia trait, and reduced levels of beta-globin synthesis and beta-globin mRNA. All these parameters were normal in three patients with XP. These findings provide the first evidence for reduced expression of a specific gene in TTD. They support the hypothesis that many of the clinical features of TTD result from inadequate expression of a diverse set of highly expressed genes. (literal)
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