The human XPC DNA repair gene: Arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function

Nucleic Acids Research

Volumn 30, Issue 16, 2002, Pages 3624-3631

  Khan, Sikandar G ^a   Muniz Medina, Vanessa ^a   Shahlavi, Tala ^a   Baker, Carl C ^a   Inui, Hiroki ^a   Ueda, Takahiro ^a   Emmert, Steffen ^a   Schneider, Thomas D ^b   Kraemer, Kenneth H ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; DNA REPAIR PROTEIN; GENE PRODUCT; ISOPROTEIN; MESSENGER RNA; RNA; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; BINDING SITE; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; DNA REPAIR; EXON; FIBROBLAST; GENE FUNCTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN CANCER; XERODERMA PIGMENTOSUM;

EID: 0037102580     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/gkf469     Document Type: Article

References (39)

1. Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer
2. Heritable diseases with increased sensitivity to cellular injury
3. Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases
4. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: The xeroderma pigmentosum paradigm
5. Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C
6. Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23
7. Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair
8. A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro
9. Information content of individual genetic sequences
10. Sequence walkers: A graphical method to display how binding proteins interact with DNA or RNA sequences
11. Clinical, cellular and molecular features of an Israeli xeroderma. pigmentosum family with a frameshift mutation in the XPC gene: Sun protection prolongs life
12. Sequence of the mouse XPC cDNA and genomic structure of the human XPC gene
13. A catalogue of splice junction sequences
14. Information analysis of human splice site mutations
15. Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays
16. Effects of primer-template mismatches on the polymerase chain reaction: Human immunodeficiency virus type 1 model studies
17. Seletive amplification of specific alleles
18. Exon recognition in vertebrate splicing
19. A new xeroderma pigmentosum group C poly (AT) insertion/deletion polymorphism
20. Nonsense mutations and altered splice-site selection
21. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: Molecular genetic evidence for a common ancestor
22. Quantification of XPA gene expression levels in human and mouse cell lines by competitive RT-PCR
23. Comparison of human adult and fetal expression and identification of 535 housekeeping/maintenance genes
24. Genomics, gene expression and DNA arrays
25. A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing
26. Cloning and domain structure of the mammalian splicing factor U2AF
27. U1 snRNP targets an essential splicing factor, U2AF65, to the 3′ splice site by a network of interactions spanning the exon
28. Exonic splicing enhancers: Mechanism of action diversity and role in human genetic diseases
29. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer
30. Nonsense-mediated mRNA decay in health and disease
31. A perfect message: RNA surveillance and nonsense-mediated decay
32. The human XPG gene: Gene architecture, alternative splicing and single nucleotide polymorphisms
33. DNA polymerase eta undergoes alternative splicing, protects against UV sensitivity and apoptosis, and suppresses Mre 1 1 - Dependent recombination
34. Splice variants but not mutations of DNA polymerase beta are common in bladder cancer
35. EST comparison indicates 38% of human mRNAs contain possible alternative splice forms
36. High-resolution haplotype structure in the human genome
37. Linkage disequilibrium in the human genome
38. XPC interacts with both HHR23B and HRR23A in vivo
39. An intronic poly(AT) polymorphism of the DNA repair gene XPC and risk of squamous cell carcinoma of the head and neck: A case-control study