{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:18:03Z","timestamp":1791850683922,"version":"4.3.4"},"reference-count":55,"publisher":"American Society of Hematology","issue":"7","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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 theCAR 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.<\/jats:p>","DOI":"10.1182\/blood.v97.7.2098","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T08:46:40Z","timestamp":1027759600000},"page":"2098-2104","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":156,"title":["Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia"],"prefix":"10.1182","volume":"97","author":[{"given":"Anna","family":"Migliazza","sequence":"first","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesc","family":"Bosch","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirokazu","family":"Komatsu","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eftihia","family":"Cayanis","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Martinotti","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Toniato","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernesto","family":"Guccione","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Qu","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minchen","family":"Chien","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. V. V.","family":"Murty","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Gaidano","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Inghirami","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peisen","family":"Zhang","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Fischer","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey M.","family":"Kalachikov","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Russo","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy; and the Department of Pathology, New York University Medical Center, New York."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isidore","family":"Edelman","sequence":"additional","affiliation":[{"name":"From the Institute of Cancer Genetics, the Departments of Pathology and Genetics & Development, and the Genome Center, Columbia University, New York; the Department of Medical Sciences, A. 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