LIG4

LIG4 is a human gene that encodes the protein DNA Ligase IV.cite web | title = Entrez Gene: LIG4 ligase IV, DNA, ATP-dependent| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3981| accessdate = ]

PBB_Summary
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summary_text = The protein encoded by this gene is an ATP-dependent DNA ligase that joins double-strand breaks during the non-homologous end joining pathway of double-strand break repair. It is also essential for V(D)J recombination. Lig4 forms a complex with XRCC4, and further interacts with the DNA-dependent protein kinase (DNA-PK) and XLF/Cernunnos, which are also required for NHEJ. The crystal structure of the Lig4/XRCC4 complex has been resolved.Fact|date=June 2008 Defects in this gene are the cause of LIG4 syndrome. The yeast homolog of Lig4 is Dnl4.

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Wei YF, Robins P, Carter K, "et al." |title=Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination. |journal=Mol. Cell. Biol. |volume=15 |issue= 6 |pages= 3206–16 |year= 1995 |pmid= 7760816 |doi=
*cite journal | author=Robins P, Lindahl T |title=DNA ligase IV from HeLa cell nuclei. |journal=J. Biol. Chem. |volume=271 |issue= 39 |pages= 24257–61 |year= 1996 |pmid= 8798671 |doi=
*cite journal | author=Grawunder U, Wilm M, Wu X, "et al." |title=Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. |journal=Nature |volume=388 |issue= 6641 |pages= 492–5 |year= 1997 |pmid= 9242410 |doi= 10.1038/41358
*cite journal | author=Critchlow SE, Bowater RP, Jackson SP |title=Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. |journal=Curr. Biol. |volume=7 |issue= 8 |pages= 588–98 |year= 1997 |pmid= 9259561 |doi=
*cite journal | author=Grawunder U, Zimmer D, Leiber MR |title=DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains. |journal=Curr. Biol. |volume=8 |issue= 15 |pages= 873–6 |year= 1998 |pmid= 9705934 |doi=
*cite journal | author=Grawunder U, Zimmer D, Fugmann S, "et al." |title=DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes. |journal=Mol. Cell |volume=2 |issue= 4 |pages= 477–84 |year= 1998 |pmid= 9809069 |doi=
*cite journal | author=Riballo E, Critchlow SE, Teo SH, "et al." |title=Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. |journal=Curr. Biol. |volume=9 |issue= 13 |pages= 699–702 |year= 1999 |pmid= 10395545 |doi=
*cite journal | author=Kim ST, Lim DS, Canman CE, Kastan MB |title=Substrate specificities and identification of putative substrates of ATM kinase family members. |journal=J. Biol. Chem. |volume=274 |issue= 53 |pages= 37538–43 |year= 2000 |pmid= 10608806 |doi=
*cite journal | author=Nick McElhinny SA, Snowden CM, McCarville J, Ramsden DA |title=Ku recruits the XRCC4-ligase IV complex to DNA ends. |journal=Mol. Cell. Biol. |volume=20 |issue= 9 |pages= 2996–3003 |year= 2000 |pmid= 10757784 |doi=
*cite journal | author=Chen L, Trujillo K, Sung P, Tomkinson AE |title=Interactions of the DNA ligase IV-XRCC4 complex with DNA ends and the DNA-dependent protein kinase. |journal=J. Biol. Chem. |volume=275 |issue= 34 |pages= 26196–205 |year= 2000 |pmid= 10854421 |doi= 10.1074/jbc.M000491200
*cite journal | author=Lee KJ, Huang J, Takeda Y, Dynan WS |title=DNA ligase IV and XRCC4 form a stable mixed tetramer that functions synergistically with other repair factors in a cell-free end-joining system. |journal=J. Biol. Chem. |volume=275 |issue= 44 |pages= 34787–96 |year= 2000 |pmid= 10945980 |doi= 10.1074/jbc.M004011200
*cite journal | author=Riballo E, Doherty AJ, Dai Y, "et al." |title=Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity. |journal=J. Biol. Chem. |volume=276 |issue= 33 |pages= 31124–32 |year= 2001 |pmid= 11349135 |doi= 10.1074/jbc.M103866200
*cite journal | author=Sibanda BL, Critchlow SE, Begun J, "et al." |title=Crystal structure of an Xrcc4-DNA ligase IV complex. |journal=Nat. Struct. Biol. |volume=8 |issue= 12 |pages= 1015–9 |year= 2002 |pmid= 11702069 |doi= 10.1038/nsb725
*cite journal | author=O'Driscoll M, Cerosaletti KM, Girard PM, "et al." |title=DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. |journal=Mol. Cell |volume=8 |issue= 6 |pages= 1175–85 |year= 2002 |pmid= 11779494 |doi=
*cite journal | author=Kuschel B, Auranen A, McBride S, "et al." |title=Variants in DNA double-strand break repair genes and breast cancer susceptibility. |journal=Hum. Mol. Genet. |volume=11 |issue= 12 |pages= 1399–407 |year= 2002 |pmid= 12023982 |doi=
*cite journal | author=Mahajan KN, Nick McElhinny SA, Mitchell BS, Ramsden DA |title=Association of DNA polymerase mu (pol mu) with Ku and ligase IV: role for pol mu in end-joining double-strand break repair. |journal=Mol. Cell. Biol. |volume=22 |issue= 14 |pages= 5194–202 |year= 2002 |pmid= 12077346 |doi=
*cite journal | author=Roth DB |title=Amplifying mechanisms of lymphomagenesis. |journal=Mol. Cell |volume=10 |issue= 1 |pages= 1–2 |year= 2002 |pmid= 12150897 |doi=
*cite journal | author=Smogorzewska A, Karlseder J, Holtgreve-Grez H, "et al." |title=DNA ligase IV-dependent NHEJ of deprotected mammalian telomeres in G1 and G2. |journal=Curr. Biol. |volume=12 |issue= 19 |pages= 1635–44 |year= 2003 |pmid= 12361565 |doi=
*cite journal | author=Roddam PL, Rollinson S, O'Driscoll M, "et al." |title=Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination. |journal=J. Med. Genet. |volume=39 |issue= 12 |pages= 900–5 |year= 2003 |pmid= 12471202 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899

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