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Blood, 1 April 2001, Vol. 97, No. 7, pp. 2098-2104
NEOPLASIA
Nucleotide sequence, transcription map, and mutation analysis of
the 13q14 chromosomal region deleted in B-cell chronic
lymphocytic leukemia
Anna Migliazza,
Francesc Bosch,
Hirokazu Komatsu,
Eftihia Cayanis,
Stefano Martinotti,
Elena Toniato,
Ernesto Guccione,
Xiaoyan Qu,
Minchen Chien,
V. V. V. Murty,
Gianluca Gaidano,
Giorgio Inghirami,
Peisen Zhang,
Stuart Fischer,
Sergey M. Kalachikov,
James Russo,
Isidore Edelman,
Argiris Efstratiadis, and
Riccardo Dalla-Favera
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.
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.
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