Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis.
Leukemia
; 17(6): 1112-20, 2003 Jun.
Article
de En
| MEDLINE
| ID: mdl-12764377
ABSTRACT
ETS variant gene 6 (ETV6)/translocation, ETS, leukemia (TEL)-involving chromosomal translocations are frequently observed in various hematologic neoplasms. We describe here a novel ETV6-involving translocation, t(12;13)(p13;q14), found in the case of acute lymphoblastic leukemia, in which ETV6 fused with a previously unknown gene, named Twelve-thirteen Translocation Leukemia gene (TTL), at 13q14. TTL was weakly but ubiquitously expressed in normal human tissues as detected by reverse transcribed-PCR. Three TTL splicing forms were identified, TTL-T from a human testis cDNA library, with an open-reading frame of 402 bp encoding 133 amino acids (aa), and TTL-B1 and -B2 from a human brain cDNA library. These proteins have no homology to known proteins. In leukemic cells from the patient, both reciprocal fusion transcripts, ETV6/TTL and TTL/ETV6, were expressed. The predominant fusion transcript, TTL/ETV6-1, encodes a predicted 530 aa fusion protein containing 89 aa of the N-terminal TTL fusing to the helix-loop-helix domain and ETS-binding domain of ETV6. Although the function of TTL is yet to be elucidated, our findings will provide another insight into the molecular pathogenesis of leukemia having ETV6-involving translocations.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Protéines de répression
/
Translocation génétique
/
Chromosomes humains de la paire 12
/
Chromosomes humains de la paire 13
/
Protéines de fusion oncogènes
/
Protéines de liaison à l'ADN
/
Leucémie-lymphome lymphoblastique à précurseurs B et T
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites:
Humans
/
Male
/
Middle aged
Langue:
En
Journal:
Leukemia
Sujet du journal:
HEMATOLOGIA
/
NEOPLASIAS
Année:
2003
Type de document:
Article
Pays d'affiliation:
Japon