DNA ligase 1 is an enzyme that in humans is encoded by the LIG1 gene.
LIG1 encodes DNA ligase I, with functions in DNA replication and the base excision repair process. Mutations in LIG1 that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents.[1]
[edit] References
[edit] Further reading
- Leonhardt H, Cardoso MC (1996). "Targeting and association of proteins with functional domains in the nucleus: the insoluble solution.". Int. Rev. Cytol. 162B: 303–35. doi:10.1016/S0074-7696(08)62620-0. PMID 8557490.
- Tomkinson AE, Mackey ZB (1998). "Structure and function of mammalian DNA ligases.". Mutat. Res. 407 (1): 1–9. PMID 9539976.
- Perrigot M, Pierrot-Deseilligny E, Bussel B, Held JP (1976). "[Paralysis following Dimer X radiculography]". La Nouvelle presse médicale 5 (17): 1120–2. PMID 934827.
- Webster AD, Barnes DE, Arlett CF, et al. (1992). "Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene.". Lancet 339 (8808): 1508–9. doi:10.1016/0140-6736(92)91266-B. PMID 1351188.
- Barnes DE, Tomkinson AE, Lehmann AR, et al. (1992). "Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.". Cell 69 (3): 495–503. doi:10.1016/0092-8674(92)90450-Q. PMID 1581963.
- Barnes DE, Kodama K, Tynan K, et al. (1992). "Assignment of the gene encoding DNA ligase I to human chromosome 19q13.2-13.3.". Genomics 12 (1): 164–6. doi:10.1016/0888-7543(92)90422-O. PMID 1733856.
- Petrini JH, Huwiler KG, Weaver DT (1991). "A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells.". Proc. Natl. Acad. Sci. U.S.A. 88 (17): 7615–9. doi:10.1073/pnas.88.17.7615. PMC 52352. PMID 1881902. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=52352.
- Lasko DD, Tomkinson AE, Lindahl T (1990). "Mammalian DNA ligases. Biosynthesis and intracellular localization of DNA ligase I.". J. Biol. Chem. 265 (21): 12618–22. PMID 2197279.
- Barnes DE, Johnston LH, Kodama K, et al. (1990). "Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae.". Proc. Natl. Acad. Sci. U.S.A. 87 (17): 6679–83. doi:10.1073/pnas.87.17.6679. PMC 54600. PMID 2204063. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=54600.
- Montecucco A, Savini E, Weighardt F, et al. (1996). "The N-terminal domain of human DNA ligase I contains the nuclear localization signal and directs the enzyme to sites of DNA replication.". EMBO J. 14 (21): 5379–86. PMC 394647. PMID 7489727. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=394647.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Trask B, Fertitta A, Christensen M, et al. (1993). "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.". Genomics 15 (1): 133–45. doi:10.1006/geno.1993.1021. PMID 8432525.
- Petrini JH, Walsh ME, DiMare C, et al. (1996). "Isolation and characterization of the human MRE11 homologue.". Genomics 29 (1): 80–6. doi:10.1006/geno.1995.1217. PMID 8530104.
- Bentley D, Selfridge J, Millar JK, et al. (1996). "DNA ligase I is required for fetal liver erythropoiesis but is not essential for mammalian cell viability.". Nat. Genet. 13 (4): 489–91. doi:10.1038/ng0896-489. PMID 8696349.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Rossi R, Villa A, Negri C, et al. (1999). "The replication factory targeting sequence/PCNA-binding site is required in G(1) to control the phosphorylation status of DNA ligase I.". EMBO J. 18 (20): 5745–54. doi:10.1093/emboj/18.20.5745. PMC 1171641. PMID 10523317. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1171641.
- Matsumoto Y, Kim K, Hurwitz J, et al. (1999). "Reconstitution of proliferating cell nuclear antigen-dependent repair of apurinic/apyrimidinic sites with purified human proteins.". J. Biol. Chem. 274 (47): 33703–8. doi:10.1074/jbc.274.47.33703. PMID 10559261.
- Vispé S, Satoh MS (2000). "DNA repair patch-mediated double strand DNA break formation in human cells.". J. Biol. Chem. 275 (35): 27386–92. doi:10.1074/jbc.M003126200. PMID 10827190.
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PDB gallery
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1x9n: Crystal Structure of Human DNA Ligase I bound to 5'-adenylated, nicked DNA
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