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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2001-3-26
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pubmed:databankReference |
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pubmed:abstractText |
Deletions of the 13q14 chromosome region are associated with B-cell chronic lymphocytic leukemia (B-CLL) and several other types of cancer, suggesting the presence of a tumor suppressor gene. In previous studies the minimal region of deletion (MDR) was mapped to a less than 300-kilobase (kb) interval bordered by the markers 173a12-82 and 138G4/1.3R. For the identification of the putative tumor suppressor gene, the entire MDR (approximately 347 kb) has been sequenced, and transcribed regions have been identified by exon trapping, EST-based full-length complementary DNA cloning, database homology searches, and computer-assisted gene prediction analyses. The MDR contains 2 pseudogenes and 3 transcribed genes: CAR, encoding a putative RING-finger containing protein; 1B4/Leu2, generating noncoding transcripts; and EST70/Leu1, probably representing another noncoding gene (longest open reading frame of 78 codons). These genes have been sequenced in 20 B-CLL cases with 13q14 hemizygous deletion, and no mutations were found. Moreover, no somatic variants were found in the entire MDR analyzed for nucleotide substitutions by a combination of direct sequencing and fluorescence-assisted mismatch analysis in 5 B-CLL cases displaying 13q14-monoallelic deletion. The nondeleted allele of the CAR and EST70/Leu1 genes was expressed in B-CLL specimens, including those with monoallelic loss, whereas no expression of 1B4/Leu2 was detectable in B-CLL, regardless of the 13q14 status. These results indicate that allelic loss and mutation of a gene within the MDR is an unlikely pathogenetic mechanism for B-CLL. However, haplo-insufficiency of one of the identified genes may contribute to tumorigenesis. (Blood. 2001;97:2098-2104)
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DLEU1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/DLEU2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Complementary,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Neoplasm,
http://linkedlifedata.com/resource/pubmed/chemical/Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Neoplasm,
http://linkedlifedata.com/resource/pubmed/chemical/Tumor Suppressor Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0006-4971
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pubmed:author |
pubmed-author:BoschFF,
pubmed-author:CayanisEE,
pubmed-author:ChienMM,
pubmed-author:Dalla-FaveraRR,
pubmed-author:EdelmanII,
pubmed-author:EfstratiadisAA,
pubmed-author:FischerSS,
pubmed-author:GaidanoGG,
pubmed-author:GuccioneEE,
pubmed-author:InghiramiGG,
pubmed-author:KalachikovS MSM,
pubmed-author:KomatsuHH,
pubmed-author:MartinottiSS,
pubmed-author:MigliazzaAA,
pubmed-author:MurtyV VVV,
pubmed-author:RiKK,
pubmed-author:RussoJJ,
pubmed-author:ToniatoEE,
pubmed-author:ZhangPP
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
97
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2098-104
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:11264177-Animals,
pubmed-meshheading:11264177-Base Sequence,
pubmed-meshheading:11264177-Cell Transformation, Neoplastic,
pubmed-meshheading:11264177-Chromosome Mapping,
pubmed-meshheading:11264177-Chromosomes, Human, Pair 13,
pubmed-meshheading:11264177-DNA, Complementary,
pubmed-meshheading:11264177-DNA, Neoplasm,
pubmed-meshheading:11264177-DNA Mutational Analysis,
pubmed-meshheading:11264177-Expressed Sequence Tags,
pubmed-meshheading:11264177-Gene Expression Regulation, Leukemic,
pubmed-meshheading:11264177-Genes, Tumor Suppressor,
pubmed-meshheading:11264177-Humans,
pubmed-meshheading:11264177-Leukemia, Lymphocytic, Chronic, B-Cell,
pubmed-meshheading:11264177-Mice,
pubmed-meshheading:11264177-Molecular Sequence Data,
pubmed-meshheading:11264177-Proteins,
pubmed-meshheading:11264177-Pseudogenes,
pubmed-meshheading:11264177-RNA, Messenger,
pubmed-meshheading:11264177-RNA, Neoplasm,
pubmed-meshheading:11264177-Sequence Deletion,
pubmed-meshheading:11264177-Transcription, Genetic,
pubmed-meshheading:11264177-Tumor Suppressor Proteins
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pubmed:year |
2001
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pubmed:articleTitle |
Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia.
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pubmed:affiliation |
Institute of Cancer Genetics, Columbia University, New York, New York 10032, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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