[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND PARTIAL PROTEIN SEQUENCE.
TISSUE=Prostate;
PubMed=7760816 [NCBI, ExPASy, EBI, Israel, Japan]
Wei Y.-F.,
Robins P.,
Carter K.,
Caldecott K.,
Pappin D.J.C.,
Yu G.-L.,
Wang R.-P.,
Shell B.K.,
Nash R.A.,
Schar P.,
Barnes D.E.,
Haseltine W.A.,
Lindahl T.;
"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.";
Mol. Cell. Biol. 15:3206-3216(1995).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-231 AND THR-857.
Rieder M.J.,
Braun A.C.,
Montoya M.A.,
Chung M.-W.,
Nguyen C.P.,
Nguyen D.A.,
Livingston R.J.,
Poel C.L.,
Robertson P.D.,
Schackwitz W.S.,
Sherwood J.K.,
Witrak L.A.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02379; PubMed=15057823 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham A.,
Matthews L.H.,
Burton J.,
Ashurst J.L.,
Howe K.L.,
Ashcroft K.J.,
Beare D.M.,
Burford D.C.,
Hunt S.E.,
Griffiths-Jones S.,
Jones M.C.,
Keenan S.J.,
Oliver K.,
Scott C.E.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews D.T.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Bannerjee R.,
Barlow K.F.,
Bates K.,
Beasley H.,
Bird C.P.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burrill W.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clamp M.E.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.C.,
Cobley V.,
Collins J.E.,
Corby N.,
Coville G.J.,
Deloukas P.,
Dhami P.,
Dunham I.,
Dunn M.,
Earthrowl M.E.,
Ellington A.G.,
Faulkner L.,
Frankish A.G.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Gilbert J.G.R.,
Gilson C.J.,
Ghori J.,
Grafham D.V.,
Gribble S.M.,
Griffiths C.,
Hall R.E.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Howden P.J.,
Huckle E.J.,
Hunt P.J.,
Hunt A.R.,
Johnson C.,
Johnson D.,
Kay M.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.J.,
Lawlor S.,
Leongamornlert D.A.,
Lloyd D.M.,
Lloyd C.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
McLaren S.J.,
McMurray A.,
Milne S.,
Moore M.J.F.,
Nickerson T.,
Palmer S.A.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phillimore B.,
Porter K.M.,
Rice C.M.,
Searle S.,
Sehra H.K.,
Shownkeen R.,
Skuce C.D.,
Smith M.,
Steward C.A.,
Sycamore N.,
Tester J.,
Thomas D.W.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
Whitehead S.L.,
Willey D.L.,
Wilming L.,
Wray P.W.,
Wright M.W.,
Young L.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Beck S.,
Bentley D.R.,
Rogers J.,
Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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CHARACTERIZATION.
DOI=10.1074/jbc.271.39.24257; PubMed=8798671 [NCBI, ExPASy, EBI, Israel, Japan]
Robins P.,
Lindahl T.;
"DNA ligase IV from HeLa cell nuclei.";
J. Biol. Chem. 271:24257-24261(1996).
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[6]
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FUNCTION, AND INTERACTION WITH XRCC4.
DOI=10.1016/S1097-2765(00)80147-1; PubMed=9809069 [NCBI, ExPASy, EBI, Israel, Japan]
Grawunder U.,
Zimmer D.,
Fugmann S.,
Schwarz K.,
Lieber M.R.;
"DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes.";
Mol. Cell 2:477-484(1998).
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[7]
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INTERACTION WITH XRCC4.
DOI=10.1016/S0960-9822(06)00258-2; PubMed=9259561 [NCBI, ExPASy, EBI, Israel, Japan]
Critchlow S.E.,
Bowater R.P.,
Jackson S.P.;
"Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV.";
Curr. Biol. 7:588-598(1997).
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[8]
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FUNCTION, AND INTERACTION WITH XRCC4; G22P1; G22P2 AND PRKDC.
DOI=10.1074/jbc.M000491200; PubMed=10854421 [NCBI, ExPASy, EBI, Israel, Japan]
Chen L.,
Trujillo K.,
Sung P.,
Tomkinson A.E.;
"Interactions of the DNA ligase IV-XRCC4 complex with DNA ends and the DNA-dependent protein kinase.";
J. Biol. Chem. 275:26196-26205(2000).
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[9]
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IDENTIFICATION IN A COMPLEX WITH G22P1; G22P2 AND PRKDC.
DOI=10.1016/S0022-2836(02)01328-1; PubMed=12547193 [NCBI, ExPASy, EBI, Israel, Japan]
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. 326:93-103(2003).
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[10]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-347, AND MASS SPECTROMETRY.
DOI=10.2116/analsci.24.161; PubMed=18187866 [NCBI, ExPASy, EBI, Israel, Japan]
Imami K.,
Sugiyama N.,
Kyono Y.,
Tomita M.,
Ishihama Y.;
"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column.";
Anal. Sci. 24:161-166(2008).
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[11]
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X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 748-784 IN COMPLEX WITH XRCC4.
DOI=10.1038/nsb725; PubMed=11702069 [NCBI, ExPASy, EBI, Israel, Japan]
Sibanda B.L.,
Critchlow S.E.,
Begun J.,
Pei X.Y.,
Jackson S.P.,
Blundell T.L.,
Pellegrini L.;
"Crystal structure of an Xrcc4-DNA ligase IV complex.";
Nat. Struct. Biol. 8:1015-1019(2001).
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[12]
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STRUCTURE BY NMR OF 654-759.
RIKEN structural genomics initiative (RSGI);
"Solution structure of the first BRCT domain of human DNA ligase IV.";
Submitted (DEC-2006) to the PDB data bank.
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[13]
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VARIANT LEUKEMIA HIS-278.
DOI=10.1016/S0960-9822(99)80311-X; PubMed=10395545 [NCBI, ExPASy, EBI, Israel, Japan]
Riballo E.,
Critchlow S.E.,
Teo S.-H.,
Doherty A.J.,
Priestley A.,
Broughton B.C.,
Kysela B.,
Beamish H.,
Plowman N.,
Arlett C.F.,
Lehmann A.R.,
Jackson S.P.,
Jeggo P.A.;
"Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient.";
Curr. Biol. 9:699-702(1999).
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[14]
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CHARACTERIZATION OF VARIANT HIS-278.
DOI=10.1074/jbc.M103866200; PubMed=11349135 [NCBI, ExPASy, EBI, Israel, Japan]
Riballo E.,
Doherty A.J.,
Dai Y.,
Stiff T.,
Oettinger M.A.,
Jeggo P.A.,
Kysela B.;
"Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity.";
J. Biol. Chem. 276:31124-31132(2001).
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[15]
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VARIANTS LIG4 SYNDROME HIS-278 AND GLU-469.
DOI=10.1016/S1097-2765(01)00408-7; PubMed=11779494 [NCBI, ExPASy, EBI, Israel, Japan]
O'Driscoll M.,
Cerosaletti K.M.,
Girard P.-M.,
Dai Y.,
Stumm M.,
Kysela B.,
Hirsch B.,
Gennery A.,
Palmer S.E.,
Seidel J.,
Gatti R.A.,
Varon R.,
Oettinger M.A.,
Neitzel H.,
Jeggo P.A.,
Concannon P.;
"DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.";
Mol. Cell 8:1175-1185(2001).
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[16]
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VARIANTS VAL-3 AND ILE-9, AND ASSOCIATION WITH RESISTANCE TO MULTIPLE MYELOMA.
DOI=10.1136/jmg.39.12.900; PubMed=12471202 [NCBI, ExPASy, EBI, Israel, Japan]
Roddam P.L.,
Rollinson S.,
O'Driscoll M.,
Jeggo P.A.,
Jack A.,
Morgan G.J.;
"Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.";
J. Med. Genet. 39:900-905(2002).
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[17]
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VARIANT RS-SCID GLN-433 DEL.
DOI=10.1172/JCI26121; PubMed=16357942 [NCBI, ExPASy, EBI, Israel, Japan]
van der Burg M.,
van Veelen L.R.,
Verkaik N.S.,
Wiegant W.W.,
Hartwig N.G.,
Barendregt B.H.,
Brugmans L.,
Raams A.,
Jaspers N.G.J.,
Zdzienicka M.Z.,
van Dongen J.J.M.,
van Gent D.C.;
"A new type of radiosensitive T-B-NK(+) severe combined immunodeficiency caused by a LIG4 mutation.";
J. Clin. Invest. 116:137-145(2006).
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