TRANSLOCATION BREAKPOINT OF ACUTE PROMYELOCYTIC LEUKEMIA LIES WITHIN THE RETINOIC ACID RECEPTOR-ALPHA LOCUS

被引：265

作者：

ALCALAY, M

ZANGRILLI, D

PANDOLFI, PP

LONGO, L

MENCARELLI, A

GIACOMUCCI, A

ROCCHI, M

BIONDI, A

RAMBALDI, A

LOCOCO, F

DIVERIO, D

DONTI, E

GRIGNANI, F

PELICCI, PG

机构：

[1] UNIV PERUGIA,POLICLIN MONTELUCE,IST CLIN MED 1,I-06100 PERUGIA,ITALY

[2] UNIV MILAN,OSPED S GERARDO,PEDIAT CLIN,I-20052 MONZA,ITALY

[3] OSPED RIUNITI BERGAMO,DIV EMATOL,I-24100 BERGAMO,ITALY

[4] DOMPE SRL,I-67100 LAQUILA,ITALY

[5] UNIV ROME 2,CATTEDRA EMATOL,DIPARTIMENTO MED INTERNA,I-00100 ROME,ITALY

[6] IST RIC FARMACOL MARIO NEGRI,I-24100 BERGAMO,ITALY

[7] UNIV ROME 1,DIV EMATOL,DIPARTIMENTO BIOPATOL,I-00161 ROME,ITALY

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1991年 / 88卷 / 05期

关键词：

LEUKEMOGENESIS; REARRANGEMENTS;

D O I：

10.1073/pnas.88.5.1977

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Acute promyelocytic leukemias (APLs) are characterized by a reciprocal balanced translocation that involves chromosomes 15 and 17 [t(15;17)]. We report the isolation and characterization of one of the two reciprocal break sites and demonstrate that the chromosome 17 breakpoint lies within the retinoic acid receptor-alpha locus. Nucleotide sequencing of the 15;17 cross-over junction on 15q+ showed that the retinoic acid receptor-alpha gene is truncated within its first intron, 370 base pairs upstream from the splicing donor site of exon II. Such a recombination would be expected to generate abnormal RAR-alpha mRNA and protein. Southern blot analysis of a number of APLs with chromosome 15- and 17-derived DNA probes revealed similar 15;17 recombinations in the majority of other APLs. Our data are strong evidence that the retinoic acid receptor-alpha gene plays a crucial role in the leukemogenesis of APL.

引用

页码：1977 / 1981

页数：5

共 27 条

[1] PROPOSALS FOR CLASSIFICATION OF ACUTE LEUKEMIAS [J].