A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy

    June 1998 in “ Molecular cell ”
    Jan de Boer, Jan de Wit, Harry van Steeg, Rob J. W. Berg, Hans Morreau, Pim Visser, Alan R. Lehmann, Marinus Durán, J.H.J. Hoeijmakers, Geert Weeda
    TLDR Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
    The study developed a mouse model for Trichothiodystrophy (TTD) by introducing the XPDR722W mutation, which replicated key features of the human disorder, such as brittle hair, developmental abnormalities, reduced lifespan, UV sensitivity, and skin issues. The TTD mice exhibited growth retardation, cyclic hair loss and regrowth, and partial nucleotide excision repair defects. The study linked cutaneous symptoms to reduced transcription of the SPRR2 gene, supporting the hypothesis that TTD results from defects in both basal transcription and DNA repair. This model provided valuable insights into the molecular mechanisms underlying TTD and its associated clinical symptoms.
    Discuss this study in the Community →