A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: Molecular genetic evidence for a common ancestor

Journal of Investigative Dermatology

Volumn 117, Issue 2, 2001, Pages 197-204

  Gozukara, Engin M ^a   Khan, Sikandar G ^a   Metin, Ahmet ^a   Emmert, Steffen ^a   Busch, David B ^a   Shahlavi, Tala ^a   Coleman, Donna M ^a   Miller, Mark ^a   Chinsomboon, Nonglux ^a   Stefanini, Miria ^a   Kraemer, Kenneth H ^a  

^a Inönö Univ Med Faculty   (Turkey)

Author keywords

DNA repair; Microsatellite markers; Skin cancer; SNP; UV radiation

Indexed keywords

ARGININE; COMPLEMENTARY DNA; MESSENGER RNA;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CANCER MORTALITY; CELL ACTIVATION; CELL SURVIVAL; CHILD; CHROMOSOME 3; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; DISEASE COURSE; DNA REPAIR; DNA SEQUENCE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HOST CELL; HUMAN; HYPERSENSITIVITY; ITALY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MOLECULAR GENETICS; MOLECULAR PHYLOGENY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PLASMID; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKIN CANCER; STOP CODON; TURKEY (REPUBLIC); ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM;

EID: 0035722196     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2001.01424.x     Document Type: Article

References (30)

1. Nucleotide excision repair syndromes: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
2. Restricted ultraviolet mutational spectrum in a shuttle vector propagated in xeroderma pigmentosum cells
3. Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes
4. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels
5. A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
6. Atypical fibroxanthoma of the skin and the lower lip in xeroderma pigmentosum
7. The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts
8. The 1993-94 genethon human genetic linkage map
9. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia
10. A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism
11. Sunlight and skin cancer: Another link revealed
12. DNA repair protects against cutaneous and internal neoplasia: Evidence from xeroderma pigmentosum
13. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
14. Reduced DNA repair in cultured melanocytes and nevus cells from a patient with xeroderma pigmentosum
15. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: The xeroderma pigmentosum paradigm
16. Cellular hypersensitivity and DNA repair
17. Heritable diseases with increased sensitivity to cellular injury
18. Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C
19. Characterization of molecular defects in xeroderma pigmentosum group C
20. Mutations of bacteria from virus sensitivity to virus resistance
21. Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23
22. Van'da kseroderma pigmentozum
23. A rule for termination-codon position within intron-containing genes: When non-sense affects RNA abundance
24. One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells
25. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
26. Information analysis of human splice site mutations
27. Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: Molecular, genetic, genealogic, and clinical studies
28. Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: Sun protection prolongs life
29. Genetics and skin cancer of xeroderma pigmentosum in Japan
30. Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer