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Characterization of molecular defects in xeroderma pigmentosum group C.

Authors: Li, L  Bales, ES  Peterson, CA  Legerski, RJ 
Citation: Li L, etal., Nat Genet. 1993 Dec;5(4):413-7.
Pubmed: (View Article at PubMed) PMID:8298653
DOI: Full-text: DOI:10.1038/ng1293-413

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease of humans characterized by an accelerated chronic degeneration of sun-exposed areas of the body, including an elevated risk of developing cancers of the skin. We recently reported the isolation of a gene XPCC that complements the repair deficiency of cultured XP-C cells. Here we report the results of a characterization of XPCC at the nucleotide level in five XP-C cell lines. Each cell line exhibited a unique mutation that correlated well with the cellular DNA repair deficiency and the clinical severity of the disease. These results extend our previous observations and indicate that defects in XPCC cause Xeroderma pigmentosum group C.


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RGD Object Information
RGD ID: 1599878
Created: 2007-02-20
Species: All species
Last Modified: 2007-02-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.