Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C - PubMed (original) (raw)
. 1992 Sep 3;359(6390):70-3.
doi: 10.1038/359070a0.
Affiliations
- PMID: 1522891
- DOI: 10.1038/359070a0
Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C
R Legerski et al. Nature. 1992.
Erratum in
- Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C.
Legerski R, Peterson C. Legerski R, et al. Nature. 1992 Dec 10;360(6404):610. doi: 10.1038/360610b0. Nature. 1992. PMID: 1461286 No abstract available.
Abstract
Xeroderma pigmentosum (XP) is a rare human autosomal recessive disease characterized by solar sensitivity, high predisposition for developing cancers on areas exposed to sunlight, and, in some cases, neurological abnormalities. XP cells are defective in DNA repair, and complementation of this defect has been used to identify eight genetic groups (A-G and variant). We have developed a simple, highly efficient complementary DNA expression system for use in human cells. Here we use this system to isolate a cDNA clone that restores the ultraviolet sensitivity and unscheduled DNA synthesis of XP-C cells to normal levels. The XP-C complementing clone XPCC encodes a highly hydrophilic protein which is composed of a predicted 823 amino acids and shares limited homology with the product of the yeast DNA repair gene RAD4. The XPCC transcript is undetectable by northern blotting in most XP-C cell lines examined.
Comment in
- DNA repair. Damage-limitation exercises.
Barnes DE. Barnes DE. Nature. 1992 Sep 3;359(6390):12-3. doi: 10.1038/359012a0. Nature. 1992. PMID: 1522875 No abstract available.
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