Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.
1996-09-06
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Nucleotide excision repair, which is defective in xeroderma pigmentosum (XP), involves incision of a DNA strand on each side of a lesion. We isolated a human gene homologous to yeast Rad1 and found that it corrects the repair defects of XP group F as well as rodent groups 4 and 11. Causative mutations and strongly reduced levels of encoded protein were identified in XP-F patients. The XPF protein was purified from mammalian cells in a tight complex with ERCC1. This complex is a structure-specific endonuclease responsible for the 5' incision during repair. These results demonstrate that the XPF, ERCC4, and ERCC11 genes are equivalent, complete the isolation of the XP genes that form the core nucleotide excision repair system, and solve the catalytic function of the XPF-containing complex.
- Animals
- 9007-49-2 (dna)
- Human
- Support, Non-U.S. Gov't
- Nucleic Acid Conformation
- Protein Binding
- 0 (Proteins)
- Cloning, Molecular
- DNA Repair/*genetics
- EC 3.1.- (ERCC-1 protein, human)
- Molecular Sequence Data
- Base Sequence
- 0 (DNA-Binding Proteins)
- Sequence Homology, Amino Acid
- Fibroblasts
- Genetic Complementation Test
- 0 (Fungal Proteins)
- Fungal Proteins/genetics
- DNA Mutational Analysis
- Molecular Weight
- 0 (RAD1 protein, S cerevisiae)
- EC 3.1.- (Endonucleases)
- 0 (ERCC4 protein)
- 0 (Multienzyme Complexes)
- DNA-Binding Proteins/chemistry/*genetics/isolation & purification/metabolism
- DNA/chemistry/metabolism
- Endonucleases/chemistry/*genetics/isolation & purification/metabolism
- Multienzyme Complexes
- Proteins/chemistry/isolation & purification/metabolism
- Radiation Tolerance
- Rodentia
- Xeroderma Pigmentosum/*enzymology/*genetics
- protein
- ercc 1xpf
- repair
- figure
- ercc 1
- group
- sequence
- incision
- rad 1 homolog
- homolog
- fraction
- activity
- nucleotide
- extract
- excision
- endonuclease
- yeast
- stemloop
- product
- nucleotide excision repair
