DNA-PKcs mutations in dogs and horses: Allele frequency and association with neoplasia

Gene

Volumn 283, Issue 1-2, 2002, Pages 263-269

  Ding, Qi ^a   Bramble, Lori ^a   Yuzbasiyan Gurkan, Vilma ^a,b   Bell, Thomas ^a   Meek, Katheryn ^a  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b 350 FST ^*  (United States)

Author keywords

DNA dependent protein kinase; Non homologous DNA end joining; Severe combined immunodeficiency; Variable (diversity) joining recombination

Indexed keywords

AMINO ACID; DNA; DNA DEPENDENT PROTEIN KINASE;

ALLELE; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; CORRELATION FUNCTION; DISEASE ASSOCIATION; DNA REPAIR; DOG; ENZYME ACTIVE SITE; FIBROBLAST; GENE FREQUENCY; GENE MUTATION; GENETIC STABILITY; HETEROZYGOSITY; HORSE; NEOPLASM; NONHUMAN; NUCLEOTIDE SEQUENCE; NULL ALLELE; POINT MUTATION; PRIORITY JOURNAL; SARCOIDOSIS; STOP CODON; TUMOR SUPPRESSOR GENE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CATALYTIC DOMAIN; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DNA, NEOPLASM; DNA-ACTIVATED PROTEIN KINASE; DNA-BINDING PROTEINS; DOGS; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HORSES; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASMS; POINT MUTATION; PROTEIN-SERINE-THREONINE KINASES;

CANIS FAMILIARIS; EQUIDAE;

EID: 0037160537     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(01)00880-0     Document Type: Article

References (30)

1. The DNA-activated protein kinase - DNA-PK
2. Frameshift mutation in PRKDC, the gene for DNA-PKcs, in the DNA repair-defective, human, glioma-derived cell line M059J
3. Autosomal recessive severe combined immunodeficiency of Jack Russell terriers
4. Frequency of the SCID gene among Arabian horses in the USA
5. Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation
6. Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse
7. Severe combined immunodeficiency (SCID) in the mouse. Pathology, reconstitution, neoplasms
8. Transgenic animal models of human papillomavirus-dependent disease
9. The nonhomologous end-joining pathway of DNA repair is required for genomic stability and the suppression of translocations
10. Identification of four highly conserved regions in DNA-PKcs
11. Murine cell line SX9 bearing a mutation in the dna-pkcs gene exhibits aberrant V(D)J recombination not only in the coding joint but also in the signal joint
12. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis
13. Equine sarcoids
14. Growth retardation and leaky SCID phenotype of KU70-deficient mice
15. DNA-dependent protein kinase catalytic subunit: A relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product
16. DNA double-strand breaks: Signaling, repair and the cancer connection
17. The mechanism of V(D)J joining: Lessons from molecular, immunological, and comparative analyses
18. SCID in Jack Russell terriers: A new animal model of DNA-PKcs deficiency
19. Factors associated with the risk of developing sarcoid tumours in horses
20. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
21. High susceptibility of Scid mice to colon carcinogenesis induced by azoxymethane indicates a possible caretaker role for DNA-dependent protein kinase
22. A deficiency in DNA repair and DNA-PKcs expression in the radiosensitive BALB/c mouse
23. Molecular and biochemical characterisation of DNA-dependent protein kinase-defective rodent mutant irs-20
24. RAG mutations in human B cell-negative SCID
25. A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation
26. RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement
27. The DNA-dependent protein kinase
28. Partial V(D)J recombination activity leads to Omenn syndrome
29. Equine severe combined immunodeficiency: A defect in V(D)J recombination and DNA-dependent protein kinase activity
30. The molecular biology of cervical cancer