Structural analysis and expression profile of a novel gene on chromosome 5q23 encoding a Golgi-associated protein with six splice variants, and involved within the 5q deletion of a Ph(-) CML patient.
Leuk Res
; 29(1): 17-31, 2005 Jan.
Article
en En
| MEDLINE
| ID: mdl-15541471
ABSTRACT
We have identified a novel gene, upstream of the cytokine gene cluster region in 5q23-31, residing within one of the most common deleted segments associated with MDS. The novel gene exhibits significant alternative splicing generating at least six splice variants encoding four putative proline-rich protein isoforms, one of which is Golgi-associated. The gene is ubiquitously expressed and conserved among species with the C. elegans homologue being the most interesting, since it resides within an operon with two other genes, phospholipase D and dishevelled, a member of the Wnt pathway, suggesting a functional association. In addition, the novel gene and other key regulatory genes of the region, such IL3, Ril, AF5q31 and TCF-1, were found to be deleted in an atypical CML case, thus underscoring the significance of this subregion in the leukemogenesis process.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 5
/
Proteínas Portadoras
/
Empalme Alternativo
/
Leucemia Mieloide Crónica Atípica BCR-ABL Negativa
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Leuk Res
Año:
2005
Tipo del documento:
Article
País de afiliación:
Grecia