DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

Molecular Cell

Volumn 8, Issue 6, 2001, Pages 1175-1185

  O'Driscoll, Mark ^a   Cerosaletti, Karen M ^b   Girard, Pierre M ^a   Dai, Yan ^c   Stumm, Markus ^d   Kysela, Boris ^a   Hirsch, Betsy ^e   Gennery, Andrew ^f   Palmer, Susan E ^g   Seidel, Jörg ^h   Gatti, Richard A ⁱ   Varon, Raymonda ^j   Oettinger, Marjorie A ^c   Neitzel, Heidemarie ^j   Jeggo, Penny A ^a   Concannon, Patrick ^b  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d OTTO VON GUERICKE UNIVERSITY   (Germany)

^e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^f NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^g University of Texas Health Science Center   (United States)

^h FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; POLYDEOXYRIBONUCLEOTIDE SYNTHASE;

ARTICLE; CASE REPORT; CELL CYCLE PHASE; CELL LINE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA DAMAGE; DNA RECOMBINATION; DNA STRAND BREAKAGE; ENZYME DEFICIENCY; ENZYME SUBUNIT; GENE MUTATION; GENETIC CODE; GROWTH RETARDATION; HUMAN; IMMUNE DEFICIENCY; MUTATION; NIJMEGEN BREAKAGE SYNDROME; PHENOTYPE; PROTEIN DNA INTERACTION; PROTEIN DOMAIN; PROTEIN FUNCTION; RADIOSENSITIVITY;

EID: 18244362081     PISSN: 10972765     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1097-2765(01)00408-7     Document Type: Article

References (42)

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2. A DNA double-strand break defective fibroblast cell line, (180BR), derived from a radiosensitive patient represents a new mutant phenotype
3. Mutations in the DNA ligase 1 gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA damaging agents
4. Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice
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11. Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization
12. Hypersensitivity of ataxia-telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks
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18. Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells
19. DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes
20. DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains
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27. ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway
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