|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0002345,
umls-concept:C0086418,
umls-concept:C0205145,
umls-concept:C0449830,
umls-concept:C0456205,
umls-concept:C0542341,
umls-concept:C0752046,
umls-concept:C0887918,
umls-concept:C1333237,
umls-concept:C1421540,
umls-concept:C1533716,
umls-concept:C1550605,
umls-concept:C2752147
|
|
pubmed:issue |
16
|
|
pubmed:dateCreated |
2002-8-14
|
|
pubmed:databankReference |
|
|
pubmed:abstractText |
XPC DNA repair gene mutations result in the cancer-prone disorder xeroderma pigmentosum. The XPC gene spans 33 kb and has 16 exons (82-882 bp) and 15 introns (0.08-5.4 kb). A 1.6 kb intron was found within exon 5. Sensitive real- time quantitative reverse transcription-polymerase chain reaction methods were developed to measure full-length XPC mRNA (the predominant form) and isoforms that skipped exons 4, 7 or 12. Exon 7 was skipped in approximately 0.07% of XPC mRNAs, consistent with the high information content of the exon 7 splice acceptor and donor sites (12.3 and 10.4 bits). In contrast, exon 4 was skipped in approximately 0.7% of the XPC mRNAs, consistent with the low information content of the exon 4 splice acceptor (-0.1 bits). A new common C/A single nucleotide polymorphism in the XPC intron 11 splice acceptor site (58% C in 97 normals) decreased its information content from 7.5 to 5.1 bits. Fibroblasts homozygous for A/A had significantly higher levels (approximately 2.6-fold) of the XPC mRNA isoform that skipped exon 12 than those homozygous for C/C. This abnormally spliced XPC mRNA isoform has diminished DNA repair function and may contribute to cancer susceptibility.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-10025395,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-10098411,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-10200950,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-10469842,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-10694877,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-10828456,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-10866209,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11013345,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11015593,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11023539,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11121128,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11266544,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11309287,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11346797,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11511294,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11579462,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-11586305,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-12036941,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-1285125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-1522891,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-1538748,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-2179874,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-3545087,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-7063411,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-7499432,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-7852296,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-8053698,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-8168482,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-8496178,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-8604333,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-9042415,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-9042933,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-9164480,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-9336476,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-9446751,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-9711873,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12177305-9734359
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
1362-4962
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:day |
15
|
|
pubmed:volume |
30
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
3624-31
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
|
