X-Ray Repair, Complementing Defective, in Chinese Hamster, 1

Alternative Names

XRCC1
X-Ray Repair Cross Complementing 1

Length

37,163 bases

No. of Exons

No. of isoforms

Protein Name

DNA repair protein XRCC1

Molecular Mass

69477 Da

Amino Acid Count

633

Genomic Location

chr19:43,543,311-43,580,473

Gene Map Locus

19q13.31

Description

The X-ray Repair Cross-Complementing group 1 (XRCC1) protein, encoded by the XRCC1 gene, is essential in the base excision repair (BER) and single-strand break repair processes (SSBR). XRCC1 has been shown to physically interact with several enzymes known to be involved in the scaffolding protein complex, including DNA polymerase beta, PARP (ADP-ribose polymerase) and DNA ligase III in a complex, to facilitate the processes of base excision repair (BER) or single-strand break repair (SSBR). The XRCC1 protein might be independently involved in DNA damage recognition, since it can bind directly to both gapped and nicked DNA, as well as to gapped DNA associated with DNA polymerase beta.

Polymorphisms in the XRCC1 have been associated with either increased or decreased cancer susceptibility, depending on the type of cancer and the levels of environmental exposure to DNA damaging agents. More than 300 single nucleotide polymorphisms (SNPs) in the XRCC1 gene have been reported; three of them are the most studied and lead to amino acid substitutions. These are p.Arg194Trp, p.Arg280His and p.Arg399Gln. The p.Arg399Gln has been associated with head and neck, colorectal, gastric, esophageal, breast, and lung cancers. The p.Arg194Trp polymorphism has been related to colorectal, gastric, head and neck, and skin cancers.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_006297.3:c.580C>T	Lebanon	chr19:43553422		Uncertain Significance	Breast Cancer	NG_033799.1:g.27157C>T; NM_006297.3:c.580C>T ; NP_006288.2:p.Arg194Trp	1799782	376355
NM_006297.3:c.839G>A	Lebanon	chr19:43552260		Uncertain Significance	Breast Cancer	NG_033799.1:g.28319G>A; NM_006297.3:c.839G>A ; NP_006288.2:p.Arg280His	25489

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Other Reports

Algeria

[See: Morocco > Laantri et al., 2011].

Morocco

Laantri et al. (2011) analyzed three single nucleotide polymorphisms (SNPs) in the XRCC1 gene in 598 nasopharyngeal carcinoma (NPC) cases from Morocco, Algeria, and Tunisia and 545 controls frequency matched by recruitment center, age, sex, and urban/rural household. The genotype and allelic distributions for the XRCC1 p.Arg399Gln, p.Arg280His, and p.Arg194Trp SNPs did not differ significantly among NPC cases and controls. The XRCC1 p.Arg194Trp allele frequency was significantly lower in the North African population than in Asian population (f = 0.04 vs. 0.31 in Cantonese Chinese and 0.21 Han Chinese). Laantri et al. (2011) concluded that the XRCC1 gene is unlikely to play a role in the susceptibility to NPC in North Africans.

Saudi Arabia

Alsbeih et al. (2008) studied the association between two SNPs, XRCC1 p.Arg399Gln and XRCC3 p.Thr241Met and late reactions to radiotherapy in 50 head and neck cancer Saudi patients. There were 43 males and seven females, with a median of 49 years. The appearance and the intensification of subcutaneous and deep tissues fibrosis were measured in the patients following radiotherapy. Using direct sequencing, allelic frequency showed significant association between XRCC1 p.Arg399Gln and risk of late normal tissue complication following radiotherapy. The XRCC3 p.Thr241Met SNP did not show such a significant association, although there was a trend towards it.

Tunisia

[See: Morocco > Laantri et al., 2011].

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=XRCC1

Contributors

Pratibha Nair: 03.09.2020
Ghazi O. Tadmouri: 18.01.2015
Nada Assaf: 24.11.2014
Pratibha Nair: 12.01.2014

Edit History

Asha Deepthi: 06.09.2020
Pratibha Nair: 03.09.2020
Pratibha Nair: 22.01.2015

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