This entry represents a domain found on Xeroderma Pigmentosum Complementation Group G (XPG) protein [ (PUBMED:8206890) ]. XPG is a DNA endonuclease involved in DNA excision repair [ (PUBMED:8078765) ]. The internal XPG (XPG-I) domain contains many cysteine and glutamate amino acid residues that are frequently found in various enzyme active sites of DNA nucleases. The I domain, together with the N-terminal, forms the catalytic domain that contains the active site [ (PUBMED:14726017) ].
Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G.
Science. 1997; 275: 990-3
Display abstract
In normal human cells, damage due to ultraviolet light is preferentially removed from active genes by nucleotide excision repair (NER) in a transcription-coupled repair (TCR) process that requires the gene products defective in Cockayne syndrome (CS). Oxidative damage, including thymine glycols, is shown to be removed by TCR in cells from normal individuals and from xeroderma pigmentosum (XP)-A, XP-F, and XP-G patients who have NER defects but not from XP-G patients who have severe CS. Thus, TCR of oxidative damage requires an XPG function distinct from its NER endonuclease activity. These results raise the possibility that defective TCR of oxidative damage contributes to the developmental defects associated with CS.
Xeroderma pigmentosum and nucleotide excision repair of DNA.
Trends Biochem Sci. 1994; 19: 83-6
Display abstract
Nucleotide excision repair is a versatile strategy for removing DNA damage from the genome. Tremendous progress in understanding this process has been made in the last few years, and the field continues to develop rapidly. Exciting connections have emerged between nucleotide excision repair, transcription, and DNA replication, but many mysteries remain concerning the biochemical details of the mechanism, the connection with several human inherited syndromes, and the role of DNA repair in preventing cancer.
Disease (disease genes where sequence variants are found in this domain)
SwissProt sequences and OMIM curated human diseases associated with missense mutations within the XPGI domain.
Protein
Disease
DNA repair protein complementing XP-G cells (P28715) (SMART)
This information is based on mapping of SMART genomic protein database to KEGG orthologous groups. Percentage points are related to the number of proteins with XPGI domain which could be assigned to a KEGG orthologous group, and not all proteins containing XPGI domain. Please note that proteins can be included in multiple pathways, ie. the numbers above will not always add up to 100%.
