XRCC4

Summary

Gene Symbol: XRCC4
Description: X-ray repair cross complementing 4
Alias: SSMED, DNA repair protein XRCC4, X-ray repair complementing defective repair in Chinese hamster cells 4
Species: human
Products:     XRCC4

Top Publications

  1. Hsu H, Yannone S, Chen D. Defining interactions between DNA-PK and ligase IV/XRCC4. DNA Repair (Amst). 2002;1:225-35 pubmed
    ..DNA-dependent protein kinase (DNA-PK), ligase IV, and XRCC4 are all critical components of the NHEJ repair pathway...
  2. Budman J, Kim S, Chu G. Processing of DNA for nonhomologous end-joining is controlled by kinase activity and XRCC4/ligase IV. J Biol Chem. 2007;282:11950-9 pubmed
    ..Surprisingly, all polymerase and most nuclease activity required XRCC4/Ligase IV...
  3. Lu H, Pannicke U, Schwarz K, Lieber M. Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity. J Biol Chem. 2007;282:11155-62 pubmed
    An XRCC4-like factor, called XLF or Cernunnos, was recently identified as another important factor in the non-homologous DNA end joining (NHEJ) process. NHEJ is the major pathway for the repair of double-strand DNA breaks...
  4. Ahnesorg P, Smith P, Jackson S. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell. 2006;124:301-13 pubmed
    ..Central to NHEJ is the protein complex containing DNA Ligase IV and XRCC4. By searching for additional XRCC4-interacting factors, we identified a previously uncharacterized 33 kDa protein, ..
  5. Koch C, Agyei R, Galicia S, Metalnikov P, O DONNELL P, Starostine A, et al. Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV. EMBO J. 2004;23:3874-85 pubmed
    ..A critical step in this process is DNA ligation, involving the Xrcc4-DNA ligase IV complex...
  6. Hayden P, Tewari P, Morris D, Staines A, Crowley D, Nieters A, et al. Variation in DNA repair genes XRCC3, XRCC4, XRCC5 and susceptibility to myeloma. Hum Mol Genet. 2007;16:3117-27 pubmed
    ..We therefore assessed 27 SNPs in three genes (XRCC3, XRCC4 and XRCC5) central to DNA repair in patients with myeloma and controls from the EpiLymph study and from an Irish ..
  7. Calsou P, Delteil C, Frit P, Drouet J, Salles B. Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4-ligase IV recruitment. J Mol Biol. 2003;326:93-103 pubmed
    ..NHEJ) requires a minimal set of proteins including DNA-dependent protein kinase (DNA-PK), DNA-ligase IV and XRCC4 proteins. DNA-PK comprises Ku70/Ku80 heterodimer and the kinase subunit DNA-PKcs (p460)...
  8. Tseng H, Tsai M, Chiu C, Wang C, Chang N, Huang C, et al. Association of XRCC4 codon 247 polymorphism with oral cancer susceptibility in Taiwan. Anticancer Res. 2008;28:1687-91 pubmed
    The DNA repair gene XRCC4, an important caretaker of overall genome stability, is thought to play a major role in the development of human carcinogenesis...
  9. Long X, Zhao D, Wang C, Huang X, Yao J, Ma Y, et al. Genetic polymorphisms in DNA repair genes XRCC4 and XRCC5 and aflatoxin B1-related hepatocellular carcinoma. Epidemiology. 2013;24:671-81 pubmed publisher
    ..We investigated the role of genetic polymorphisms at XRCC4 codon 247 (rs3734091, XRCC4P) and XRCC5 codon 180 (rs80309960, XRCC5P) in liver cancer (hepatocellular carcinoma) ..

More Information

Publications67

  1. Critchlow S, Bowater R, Jackson S. Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. Curr Biol. 1997;7:588-98 pubmed
    Mammalian cells deficient in the XRCC4 DNA repair protein are impaired in DNA double-strand break repair and are consequently hypersensitive to ionising radiation...
  2. Long X, Yao J, Zeng Z, Ma Y, Huang X, Wei Z, et al. Polymorphisms in the coding region of X-ray repair complementing group 4 and aflatoxin B1-related hepatocellular carcinoma. Hepatology. 2013;58:171-81 pubmed publisher
    X-ray repair complementing group 4 (XRCC4) is very important in maintaining overall genome stability and may play an important role in carcinogenesis...
  3. Long X, Ma Y, Huang Y, Yi Y, Liang Q, Ma A, et al. Genetic polymorphisms in DNA repair genes XPC, XPD, and XRCC4, and susceptibility to Helicobacter pylori infection-related gastric antrum adenocarcinoma in Guangxi population, China. Mol Carcinog. 2010;49:611-8 pubmed publisher
    ..of DNA repair genes XPC Ala499Val (RS#2228000) and Lys939Gln (RS#2228001), XPD Lys751Gln (RS#13181), and XRCC4 Ala247Ser (RS#3734091) and Ser298Asn (RS#1805377), and GAA risk for Guangxi population by means of TaqMan-PCR ..
  4. Andres S, Modesti M, Tsai C, Chu G, Junop M. Crystal structure of human XLF: a twist in nonhomologous DNA end-joining. Mol Cell. 2007;28:1093-101 pubmed
    ..One pathway for repairing these breaks occurs via nonhomologous end-joining (NHEJ) and depends on XRCC4, LigaseIV, and Cernunnos, also called XLF...
  5. Figueroa J, Malats N, Rothman N, Real F, Silverman D, Kogevinas M, et al. Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk. Carcinogenesis. 2007;28:1788-93 pubmed
    ..DNA break sensing (NBS1, BRCA1 interacting genes BRIP1 and ZNF350), non-homologous end-joining (NHEJ) DNA repair (XRCC4) and homologous recombination (HR) repair (RAD51, XRCC2 and XRCC3)...
  6. Wu Q, Ochi T, Matak Vinkovic D, Robinson C, Chirgadze D, Blundell T. Non-homologous end-joining partners in a helical dance: structural studies of XLF-XRCC4 interactions. Biochem Soc Trans. 2011;39:1387-92, suppl 2 p following 1392 pubmed publisher
    b>XRCC4 (X-ray cross-complementation group 4) and XLF (XRCC4-like factor) are two essential interacting proteins in the human NHEJ (non-homologous end-joining) pathway that repairs DNA DSBs (double-strand breaks)...
  7. Deshpande R, Wilson T. Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4. DNA Repair (Amst). 2007;6:1507-16 pubmed
    ..joining (NHEJ) pathway of double-strand break repair depends on DNA ligase IV and its interacting partner protein XRCC4 (Lif1 in yeast)...
  8. Hammel M, Rey M, Yu Y, Mani R, Classen S, Liu M, et al. XRCC4 protein interactions with XRCC4-like factor (XLF) create an extended grooved scaffold for DNA ligation and double strand break repair. J Biol Chem. 2011;286:32638-50 pubmed publisher
    The XRCC4-like factor (XLF)-XRCC4 complex is essential for nonhomologous end joining, the major repair pathway for DNA double strand breaks in human cells...
  9. Guirouilh Barbat J, Rass E, Plo I, Bertrand P, Lopez B. Defects in XRCC4 and KU80 differentially affect the joining of distal nonhomologous ends. Proc Natl Acad Sci U S A. 2007;104:20902-7 pubmed
    b>XRCC4-null mice have a more severe phenotype than KU80-null mice. Here, we address whether this difference in phenotype is connected to nonhomologous end-joining (NHEJ)...
  10. Recuero Checa M, Doré A, Arias Palomo E, Rivera Calzada A, Scheres S, Maman J, et al. Electron microscopy of Xrcc4 and the DNA ligase IV-Xrcc4 DNA repair complex. DNA Repair (Amst). 2009;8:1380-9 pubmed publisher
    The DNA ligase IV-Xrcc4 complex is responsible for the ligation of broken DNA ends in the non-homologous end-joining (NHEJ) pathway of DNA double strand break repair in mammals...
  11. Matsuzaki K, Shinohara A, Shinohara M. Forkhead-associated domain of yeast Xrs2, a homolog of human Nbs1, promotes nonhomologous end joining through interaction with a ligase IV partner protein, Lif1. Genetics. 2008;179:213-25 pubmed publisher
    ..The interaction between Xrs2 and Lif1 through the FHA domain is conserved in humans; the FHA domain Nbs1 interacts with Xrcc4, a Lif1 homolog of human.
  12. Yano K, Morotomi Yano K, Lee K, Chen D. Functional significance of the interaction with Ku in DNA double-strand break recognition of XLF. FEBS Lett. 2011;585:841-6 pubmed publisher
    ..This deletion also led to marked reduction of XLF-XRCC4 interaction although the XRCC4-binding site on the XLF N-terminal domain remained intact...
  13. Grawunder U, Wilm M, Wu X, Kulesza P, Wilson T, Mann M, et al. Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature. 1997;388:492-5 pubmed
    Mutation of the XRCC4 gene in mammalian cells prevents the formation of the signal and coding joints in the V(D)J recombination reaction, which is necessary for production of a functional immunoglobulin gene, and renders the cells highly ..
  14. Bassi C, Xavier D, Palomino G, Nicolucci P, Soares C, Sakamoto Hojo E, et al. Efficiency of the DNA repair and polymorphisms of the XRCC1, XRCC3 and XRCC4 DNA repair genes in systemic lupus erythematosus. Lupus. 2008;17:988-95 pubmed publisher
    ..induced by ionizing radiation and (b) the association of DNA repair gene (XRCC1 Arg399Gln, XRCC3 Thr241Met and XRCC4 Ile401Thr) polymorphisms in SLE patients, considering the whole group, or stratified sub-groups according to ..
  15. Jayaram S, Gilson T, Ehrlich E, Yu X, Ketner G, Hanakahi L. E1B 55k-independent dissociation of the DNA ligase IV/XRCC4 complex by E4 34k during adenovirus infection. Virology. 2008;382:163-70 pubmed publisher
    The ligase IV/XRCC4 complex plays a central role in DNA double-strand break repair by non-homologous end joining (NHEJ)...
  16. Wu P, Frit P, Meesala S, Dauvillier S, Modesti M, Andres S, et al. Structural and functional interaction between the human DNA repair proteins DNA ligase IV and XRCC4. Mol Cell Biol. 2009;29:3163-72 pubmed publisher
    ..It relies on the XRCC4/DNA ligase IV complex to reseal DNA strands...
  17. Callebaut I, Malivert L, Fischer A, Mornon J, Revy P, de Villartay J. Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1. J Biol Chem. 2006;281:13857-60 pubmed
    ..is reminiscent to that of DNA-ligase IV deficiency and suggests a possible interplay between Cernunnos and the XRCC4 x DNA-ligase IV complex. We show here that Cernunnos physically interacts with the XRCC4 x DNA-ligase IV complex...
  18. Giaccia A, Denko N, MacLaren R, Mirman D, Waldren C, Hart I, et al. Human chromosome 5 complements the DNA double-strand break-repair deficiency and gamma-ray sensitivity of the XR-1 hamster variant. Am J Hum Genet. 1990;47:459-69 pubmed
    ..We have tentatively assigned the name XRCC4 (X-ray-complementing Chinese hamster gene 4) to this human gene until its biochemical function in repair is ..
  19. Mizuta R, Cheng H, Gao Y, Alt F. Molecular genetic characterization of XRCC4 function. Int Immunol. 1997;9:1607-13 pubmed
    b>XRCC4 is a generally expressed protein of 334 amino acids that is involved in the repair of DNA double-strand breaks and in V(D)J recombination, but its function is unknown...
  20. Modesti M, Hesse J, Gellert M. DNA binding of Xrcc4 protein is associated with V(D)J recombination but not with stimulation of DNA ligase IV activity. EMBO J. 1999;18:2008-18 pubmed
    Mammalian cells are protected from the effects of DNA double-strand breaks by end-joining repair. Cells lacking the Xrcc4 protein are hypersensitive to agents that induce DNA double-strand breaks, and are unable to complete V(D)J ..
  21. Gao Y, Ferguson D, Xie W, Manis J, Sekiguchi J, Frank K, et al. Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development. Nature. 2000;404:897-900 pubmed
    b>XRCC4 is a non-homologous end-joining protein employed in DNA double strand break repair and in V(D)J recombination...
  22. Przewloka M, Pardington P, Yannone S, Chen D, Cary R. In vitro and in vivo interactions of DNA ligase IV with a subunit of the condensin complex. Mol Biol Cell. 2003;14:685-97 pubmed
    Several findings have revealed a likely role for DNA ligase IV, and interacting protein XRCC4, in the final steps of mammalian DNA double-strand break repair...
  23. Fu Y, Yu J, Cheng T, Lou M, Hsu G, Wu C, et al. Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility. Cancer Res. 2003;63:2440-6 pubmed
    ..examine these hypotheses, we have genotyped 30 SNPs in all five NHEJ genes (Ku70, Ku80, DNA-PKcs, Ligase IV, and XRCC4) in 254 primary breast cancer patients and 379 healthy controls...
  24. Lee J, Blanco L, Zhou T, Garcia Diaz M, Bebenek K, Kunkel T, et al. Implication of DNA polymerase lambda in alignment-based gap filling for nonhomologous DNA end joining in human nuclear extracts. J Biol Chem. 2004;279:805-11 pubmed
    ..Nuclear extracts of human HeLa cells, supplemented with recombinant XRCC4-DNA ligase IV complex (XRCC4/ligase IV), were capable of accurately rejoining model double-strand break substrates ..
  25. Mari P, Florea B, Persengiev S, Verkaik N, Bruggenwirth H, Modesti M, et al. Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4. Proc Natl Acad Sci U S A. 2006;103:18597-602 pubmed
    ..Accumulation of XRCC4/ligase IV on DSBs depended on the presence of Ku70/80, but not DNA-PK(CS)...
  26. Yurchenko V, Xue Z, Sadofsky M. SUMO modification of human XRCC4 regulates its localization and function in DNA double-strand break repair. Mol Cell Biol. 2006;26:1786-94 pubmed
    ..Here we report that human XRCC4 (for X-ray cross-complementation group 4), a protein essential for NHEJ, is subject to posttranslational protein ..
  27. Lee K, Jovanovic M, Udayakumar D, Bladen C, Dynan W. Identification of DNA-PKcs phosphorylation sites in XRCC4 and effects of mutations at these sites on DNA end joining in a cell-free system. DNA Repair (Amst). 2004;3:267-76 pubmed
    ..components: the DNA-dependent protein kinase catalytic subunit (DNA-PKcs), Ku protein, and the DNA ligase IV/XRCC4 (DNL IV/XRCC4) complex...
  28. Li Y, Chirgadze D, Bolanos Garcia V, Sibanda B, Davies O, Ahnesorg P, et al. Crystal structure of human XLF/Cernunnos reveals unexpected differences from XRCC4 with implications for NHEJ. EMBO J. 2008;27:290-300 pubmed
    ..protein plays a crucial role in DNA repair by non-homologous end joining (NHEJ) and interacts with the XRCC4-DNA Ligase IV complex. Here, we report the crystal structure of the XLF (1-233) homodimer at 2...
  29. Shaheen R, Faqeih E, Ansari S, Abdel Salam G, Al Hassnan Z, Al Shidi T, et al. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014;24:291-9 pubmed publisher
    ..An additional novel PD disease candidate gene XRCC4 was identified by autozygome/exome analysis, and the knockout mouse phenotype is highly compatible with PD...
  30. Mahaney B, Hammel M, Meek K, Tainer J, Lees Miller S. XRCC4 and XLF form long helical protein filaments suitable for DNA end protection and alignment to facilitate DNA double strand break repair. Biochem Cell Biol. 2013;91:31-41 pubmed publisher
    ..IV (LIG4), which interacts with, and is stabilized by, the scaffolding protein X-ray cross-complementing gene 4 (XRCC4)...
  31. Malu S, De Ioannes P, Kozlov M, Greene M, Francis D, Hanna M, et al. Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs. J Exp Med. 2012;209:955-63 pubmed publisher
    ..Signal joint formation remains unaffected. Our data reveal that the C-terminal region of Artemis influences V(D)J recombination through its interaction with both Ligase IV and DNA-PKcs. ..
  32. Grawunder U, Zimmer D, Fugmann S, Schwarz K, Lieber M. DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes. Mol Cell. 1998;2:477-84 pubmed
    ..Hence, DNA ligase IV is the activity responsible for the ligation step in NHEJ and in V(D)J recombination. ..
  33. Ropars V, Drevet P, Legrand P, Baconnais S, Amram J, Faure G, et al. Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining. Proc Natl Acad Sci U S A. 2011;108:12663-8 pubmed publisher
    ..Cernunnos stimulates the final ligation step catalyzed by the complex between DNA ligase IV and Xrcc4 (X4). Here we present the crystal structure of the X4(1-157)-Cernunnos(1-224) complex at 5...
  34. Gao Y, Sun Y, Frank K, Dikkes P, Fujiwara Y, Seidl K, et al. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell. 1998;95:891-902 pubmed
    b>XRCC4 was identified via a complementation cloning method that employed an ionizing radiation (IR)-sensitive hamster cell line...
  35. Wang Y, Wang L, Li X, Liu B, Zhao Q, Chen P, et al. Polymorphisms of XRCC4 are involved in reduced colorectal cancer risk in Chinese schizophrenia patients. BMC Cancer. 2010;10:523 pubmed publisher
    ..b>XRCC4 is one of the potential candidate genes associated with schizophrenia which might induce colorectal cancer ..
  36. Mani R, Yu Y, Fang S, Lu M, Fanta M, Zolner A, et al. Dual modes of interaction between XRCC4 and polynucleotide kinase/phosphatase: implications for nonhomologous end joining. J Biol Chem. 2010;285:37619-29 pubmed publisher
    b>XRCC4 plays a crucial role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair acting as a scaffold protein that recruits other NHEJ proteins to double-strand breaks...
  37. Bau D, Yang M, Tsou Y, Lin S, Wu C, Hsieh H, et al. Colorectal cancer and genetic polymorphism of DNA double-strand break repair gene XRCC4 in Taiwan. Anticancer Res. 2010;30:2727-30 pubmed
    The DNA repair gene X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4) is thought to play a major role in the caretaking of the whole genome via double-strand break repair...
  38. Tseng R, Hsieh F, Shih C, Hsu H, Chen C, Wang Y. Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study. Cancer. 2009;115:2939-48 pubmed publisher
    ..Chinese hamster cells 5 (Ku80) (rs3835), x-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4) (rs1805377), and DNA ligase IV (LIG4) (rs1805388)...
  39. Yano K, Morotomi Yano K, Wang S, Uematsu N, Lee K, Asaithamby A, et al. Ku recruits XLF to DNA double-strand breaks. EMBO Rep. 2008;9:91-6 pubmed
    b>XRCC4-like factor (XLF)--also known as Cernunnos--has recently been shown to be involved in non-homologous end-joining (NHEJ), which is the main pathway for the repair of DNA double-strand breaks (DSBs) in mammalian cells...
  40. Chiu C, Wang H, Wang C, Wang C, Lin C, Shen C, et al. A new single nucleotide polymorphism in XRCC4 gene is associated with breast cancer susceptibility in Taiwanese patients. Anticancer Res. 2008;28:267-70 pubmed
    The DNA repair gene XRCC4, an important caretaker of the overall genome stability, is thought to play a major role in the human carcinogenesis...
  41. Yen C, Liu S, Chen C, Tseng H, Chuang L, Yang C, et al. Combinational polymorphisms of four DNA repair genes XRCC1, XRCC2, XRCC3, and XRCC4 and their association with oral cancer in Taiwan. J Oral Pathol Med. 2008;37:271-7 pubmed publisher
    ..Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs861539-rs2075685-rs1799782 (XRCCs 1-4) with specific genotype pattern (AG-CC-TG and CT-AG-CC-TG) ..
  42. Chiu C, Wang C, Wang C, Lin C, Hsu N, Weng J, et al. A novel single nucleotide polymorphism in XRCC4 gene is associated with gastric cancer susceptibility in Taiwan. Ann Surg Oncol. 2008;15:514-8 pubmed
    The DNA repair gene XRCC4, an important caretaker of the overall genome stability, is thought to play a major role in the human carcinogenesis...
  43. Lee J, Yannone S, Chen D, Povirk L. Requirement for XRCC4 and DNA ligase IV in alignment-based gap filling for nonhomologous DNA end joining in vitro. Cancer Res. 2003;63:22-4 pubmed
    ..end joining pathway of DNA double-strand break repair, the ligation step is catalyzed by a complex of XRCC4 and DNA ligase IV...
  44. Sibanda B, Critchlow S, Begun J, Pei X, Jackson S, Blundell T, et al. Crystal structure of an Xrcc4-DNA ligase IV complex. Nat Struct Biol. 2001;8:1015-9 pubmed
    A complex of two proteins, Xrcc4 and DNA ligase IV, plays a fundamental role in DNA non-homologous end joining (NHEJ), a cellular function required for double-strand break repair and V(D)J recombination...
  45. Junop M, Modesti M, Guarné A, Ghirlando R, Gellert M, Yang W. Crystal structure of the Xrcc4 DNA repair protein and implications for end joining. EMBO J. 2000;19:5962-70 pubmed
    b>XRCC4 is essential for carrying out non-homologous DNA end joining (NHEJ) in all eukaryotes and, in particular, V(D)J recombination in vertebrates...
  46. Malivert L, Callebaut I, Rivera Munoz P, Fischer A, Mornon J, Revy P, et al. The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo. Mol Cell Biol. 2009;29:1116-22 pubmed publisher
    The core nonhomologous end-joining DNA repair pathway is composed of seven factors: Ku70, Ku80, DNA-PKcs, Artemis, XRCC4 (X4), DNA ligase IV (L4), and Cernunnos/XLF (Cernunnos)...
  47. Modesti M, Junop M, Ghirlando R, van de Rakt M, Gellert M, Yang W, et al. Tetramerization and DNA ligase IV interaction of the DNA double-strand break repair protein XRCC4 are mutually exclusive. J Mol Biol. 2003;334:215-28 pubmed
    The XRCC4 protein is of critical importance for the repair of broken chromosomal DNA by non-homologous end joining (NHEJ). The absence of XRCC4 abolishes chromosomal NHEJ almost completely...
  48. Lieber M. The biochemistry and biological significance of nonhomologous DNA end joining: an essential repair process in multicellular eukaryotes. Genes Cells. 1999;4:77-85 pubmed
    ..Murine genetic knockouts for DNA ligase IV and XRCC4 are embryonic lethal, indicating that nonhomologous end joining is essential for viability...
  49. Slavin T, Feng T, Schnell A, Zhu X, Elston R. Two-marker association tests yield new disease associations for coronary artery disease and hypertension. Hum Genet. 2011;130:725-33 pubmed publisher
    ..For HTN, we detected SNP pairs in five genes: GPR39, XRCC4, MYO6, ZFAT, and MACROD2. Four further associated SNP pair regions were at least 70 kb from any known gene...
  50. Leber R, Wise T, Mizuta R, Meek K. The XRCC4 gene product is a target for and interacts with the DNA-dependent protein kinase. J Biol Chem. 1998;273:1794-801 pubmed
    The gene product of XRCC4 has been implicated in both V(D)J recombination and the more general process of double strand break repair (DSBR). To date its role in these processes is unknown...
  51. Hsieh Y, Bau D, Chang C, Tsai C, Chen C, Tsai F. XRCC4 codon 247*A and XRCC4 promoter -1394*T related genotypes but not XRCC4 intron 3 gene polymorphism are associated with higher susceptibility for endometriosis. Mol Reprod Dev. 2008;75:946-51 pubmed publisher
    ..Genetic variants in DNA repair genes such as X-ray repair cross-complementing group 4 (XRCC4) might influence the ability to repair damaged DNA...
  52. He F, Chang S, Wallar G, Zhang Z, Cai L. Association of XRCC3 and XRCC4 gene polymorphisms, family history of cancer and tobacco smoking with non-small-cell lung cancer in a Chinese population: a case-control study. J Hum Genet. 2013;58:679-85 pubmed publisher
    ..of the DNA repair genes X-ray repair cross-complementing group 3 (XRCC3) and X-ray cross-complementing group 4 (XRCC4) and their association with non-small-cell lung cancer (NSCLC) susceptibility in a Chinese population...
  53. Takada Y, Someya M, Matsumoto Y, Satoh M, Nakata K, Hori M, et al. Influence of Ku86 and XRCC4 expression in uterine cervical cancer on the response to preoperative radiotherapy. Med Mol Morphol. 2016;49:210-216 pubmed
    ..Immunohistochemical analysis of proteins involved in NHEJ, such as Ku86 and XRCC4 (X-ray repair cross-complementing protein 4) may be useful for predicting tumor radiosensitivity...
  54. Sever T, Büyükgüral B, Pehlivan S, Rosti R, Bekerecioglu M. No association between DNA repair gene (XPD, XRCC1, and XRCC4) polymorphisms and nonsyndromic microtia in Turkish patients. Plast Reconstr Surg. 2011;128:75e-76e pubmed publisher
  55. Ramos Y, Metrustry S, Arden N, Bay Jensen A, Beekman M, de Craen A, et al. Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance. J Med Genet. 2014;51:596-604 pubmed publisher
    ..The genome wide significant association of MRC1 with sCOMP levels was found likely to act independent of OA subtypes. Increased sensitivity of biomarkers with OA may be accomplished by taking genetic variation into account. ..
  56. Fukuchi M, Wanotayan R, Liu S, Imamichi S, Sharma M, Matsumoto Y. Lysine 271 but not lysine 210 of XRCC4 is required for the nuclear localization of XRCC4 and DNA ligase IV. Biochem Biophys Res Commun. 2015;461:687-94 pubmed publisher
    b>XRCC4 and DNA Ligase IV (LIG4) cooperate to join two DNA ends at the final step of DNA double-strand break (DSB) repair through non-homologous end-joining (NHEJ)...
  57. Ding Y, Li L. Association between single nucleotide polymorphisms of X-ray repair cross-complementing protein 4 gene and development of pancreatic cancer. Genet Mol Res. 2015;14:9626-32 pubmed publisher
    We performed a study to evaluate X-ray repair cross-complementing protein 4 (XRCC4) gene polymorphisms and the development of pancreatic cancer...
  58. Gao S, Zhao Z, Wu R, Zeng Y, Zhang Z, Miao J, et al. Bone marrow mesenchymal stem cell transplantation improves radiation-induced heart injury through DNA damage repair in rat model. Radiat Environ Biophys. 2017;56:63-77 pubmed publisher
    ..Furthermore, we found that expression of ?-H2AX, XRCC4, DNA ligase4, and TP53BP1, which are associated with DNA repair, was up-regulated, along with increased secretion ..