DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ERCC1 gene.[5] Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.[6][7]
Many aspects of these two gene products are described together here because they are partners during DNA repair. The ERCC1-XPF nuclease is an essential activity in the pathway of DNA nucleotide excision repair (NER). The ERCC1-XPF nuclease also functions in pathways to repair double-strand breaks in DNA, and in the repair of “crosslink” damage that harmfully links the two DNA strands.
Cells with disabling mutations in ERCC1 are more sensitive than normal to particular DNA damaging agents, including ultraviolet (UV) radiation and to chemicals that cause crosslinking between DNA strands. Genetically engineered mice with disabling mutations in ERCC1 have defects in DNA repair, accompanied by metabolic stress-induced changes in physiology that result in premature aging.[8] Complete deletion of ERCC1 is incompatible with viability of mice, and no human individuals have been found with complete (homozygous) deletion of ERCC1. Rare individuals in the human population harbor inherited mutations that impair the function of ERCC1. When the normal genes are absent, these mutations can lead to human syndromes, including Cockayne syndrome (CS) and COFS.
ERCC1 and ERCC4 are the gene names assigned in mammalian genomes, including the human genome (Homo sapiens). Similar genes with similar functions are found in all eukaryotic organisms.
- ^ a b c GRCh38: Ensembl release 89: ENSG00000012061 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000003549 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Westerveld A, Hoeijmakers JH, van Duin M, de Wit J, Odijk H, Pastink A, et al. (Sep 1984). "Molecular cloning of a human DNA repair gene". Nature. 310 (5976): 425–9. Bibcode:1984Natur.310..425W. doi:10.1038/310425a0. PMID 6462228. S2CID 4336902.
- ^ Friedberg EC, Walker GC, Siede W, Wood RD, Schultz RA, Ellenberger T, eds. (2006). DNA Repair and Mutagenesis. ASM Press. p. 286. ISBN 978-1555813192.
- ^ "Entrez Gene: ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4".
- ^ Gregg SQ, Robinson AR, Niedernhofer LJ (July 2011). "Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease". DNA Repair. 10 (7): 781–91. doi:10.1016/j.dnarep.2011.04.026. PMC 3139823. PMID 21612988.