NameXPD
OrganismMus musculus
Aging PhenotypeShortened life-span
Allele TypeRecessive
StrainR722W/R722W
DescriptionHomozygous mutation of XPD results in an extreme shortening of life-span (mean life-span = 7 months) relative to wild type (mean life-span > 24 months) (de Boer et al., 2002). . The shortened life span of the mutant mouse is accompanied by symptoms of premature aging including including osteoporosis, early graying, cachexia, and infertility.
Gene FunctionHelicase subunit of TFIIH which functions in both DNA repair and basal transcription (Schaeffer et al.,1993).
Other PhenotypesMouse model for the brittle hair disorder trichothiodystrophy (TTD). Phenotypes include brittle hair, UV sensitivity, and developmental defects (de Boer et al.,1998).
HomologsS.c. RAD3, CHL1
S.p. RAD15, Spac3g6.11
C.e. Y50D7A.2, F25H2.13
D.m. XPD
H.s. ERCC2
Primary Referencede Boer, J., et al. Preamture aging in mice deficient in DNA repair and transcription. (2002). Science. Published online April 11. http://www.sciencemag.org/cgi/content/abstract/1070174
Other Referencesde Boer, J., de Wit, J., van Steeg, H., Berg, R. J., Morreau, H., Visser, P., Lehmann, A. R., Duran, M., Hoeijmakers, J. H., and Weeda, G. (1998). A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell 1, 981-90. [Abstract]
Schaeffer, L., Roy, R., Humbert, S., Moncollin, V., Vermeulen, W., Hoeijmakers, J. H., Chambon, P., and Egly, J. M. (1993). DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260, 58-63. [Abstract]
Relevant LinksLocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=13871
Keywordsmouse, brittle hair, TTD, trichothiodystrophy, progeria, premature aging, nucleotide excision repair, NER, DNA damage, TFIIH, transcription, UV sensitivity, XPA.