Literature DB >> 1848017

Translocation breakpoint of acute promyelocytic leukemia lies within the retinoic acid receptor alpha locus.

M Alcalay1, D Zangrilli, P P Pandolfi, L Longo, A Mencarelli, A Giacomucci, M Rocchi, A Biondi, A Rambaldi, F Lo Coco.   

Abstract

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.

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Year:  1991        PMID： 1848017      PMCID： PMC51149          DOI： 10.1073/pnas.88.5.1977

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  25 in total

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Authors:  M Petkovich; N J Brand; A Krust; P Chambon
Journal:  Nature       Date:  1987 Dec 3-9       Impact factor: 49.962

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Authors:  V Giguere; E S Ong; P Segui; R M Evans
Journal:  Nature       Date:  1987 Dec 17-23       Impact factor: 49.962

3.  Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9.

Authors:  M Rocchi; L Roncuzzi; R Santamaria; N Archidiacono; L Dente; G Romeo
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

4.  Functional domains of the human estrogen receptor.

Authors:  V Kumar; S Green; G Stack; M Berry; J R Jin; P Chambon
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582

5.  The N-terminal region of the chicken progesterone receptor specifies target gene activation.

Authors:  L Tora; H Gronemeyer; B Turcotte; M P Gaub; P Chambon
Journal:  Nature       Date:  1988-05-12       Impact factor: 49.962

6.  The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus.

Authors:  H de Thé; C Chomienne; M Lanotte; L Degos; A Dejean
Journal:  Nature       Date:  1990-10-11       Impact factor: 49.962

7.  Mapping of chromosome 17 breakpoints in acute myeloid leukemias.

Authors:  L Longo; E Donti; A Mencarelli; G Avanzi; L Pegoraro; G Alimena; A Tabilio; G Venti; F Grignani; P G Pelicci
Journal:  Oncogene       Date:  1990-10       Impact factor: 9.867

8.  Isolation of mammalian cell mutants deficient in glucose-6-phosphate dehydrogenase activity: linkage to hypoxanthine phosphoribosyl transferase.

Authors:  M Rosenstraus; L A Chasin
Journal:  Proc Natl Acad Sci U S A       Date:  1975-02       Impact factor: 11.205

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Authors:  J Borrow; A D Goddard; D Sheer; E Solomon
Journal:  Science       Date:  1990-09-28       Impact factor: 47.728

Review 10.  The steroid and thyroid hormone receptor superfamily.

Authors:  R M Evans
Journal:  Science       Date:  1988-05-13       Impact factor: 47.728
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  51 in total

1.  Paucity of retinoic acid receptor alpha (RAR alpha) nuclear immunostaining in gliomas and inability of retinoic acid to influence neural cell adhesion molecule (NCAM) expression.

Authors:  B K Kleinschmidt-DeMasters; E A Orr; E Savelieva; G C Owens; C A Kruse
Journal:  J Neurooncol       Date:  1999-01       Impact factor: 4.130

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Authors:  B J Aneskievich; E Fuchs
Journal:  Mol Cell Biol       Date:  1992-11       Impact factor: 4.272

3.  SMRT corepressor interacts with PLZF and with the PML-retinoic acid receptor alpha (RARalpha) and PLZF-RARalpha oncoproteins associated with acute promyelocytic leukemia.

Authors:  S H Hong; G David; C W Wong; A Dejean; M L Privalsky
Journal:  Proc Natl Acad Sci U S A       Date:  1997-08-19       Impact factor: 11.205

4.  Retinoid X receptor (RXR) agonist-induced activation of dominant-negative RXR-retinoic acid receptor alpha403 heterodimers is developmentally regulated during myeloid differentiation.

Authors:  B S Johnson; R A Chandraratna; R A Heyman; E A Allegretto; L Mueller; S J Collins
Journal:  Mol Cell Biol       Date:  1999-05       Impact factor: 4.272

5.  Dynamic regulation of Drosophila nuclear receptor activity in vivo.

Authors:  Laura Palanker; Aleksandar S Necakov; Heidi M Sampson; Ruoyu Ni; Chun Hu; Carl S Thummel; Henry M Krause
Journal:  Development       Date:  2006-08-16       Impact factor: 6.868

Review 6.  American Society of Human Genetics presidential address, October 18, 1990.

Authors:  C T Caskey
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

7.  t(15;17)(q22;q21), t(15;17)(q22;q12), or t(15;17)(q24;q21)? A diagnostic entity in search of unanimity.

Authors:  Armin Rashidi; Stephen I Fisher
Journal:  Med Oncol       Date:  2013-06-18       Impact factor: 3.064

8.  The hybrid PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma transforms fibroblasts in culture.

Authors:  S Scheidler; W J Fredericks; F J Rauscher; F G Barr; P K Vogt
Journal:  Proc Natl Acad Sci U S A       Date:  1996-09-03       Impact factor: 11.205

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Authors:  D R van Bockstaele; M Lenjou; H W Snoeck; F Lardon; P Stryckmans; M E Peetermans
Journal:  Ann Hematol       Date:  1993-02       Impact factor: 3.673

10.  The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA.

Authors:  M von Lindern; M Fornerod; S van Baal; M Jaegle; T de Wit; A Buijs; G Grosveld
Journal:  Mol Cell Biol       Date:  1992-04       Impact factor: 4.272
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