Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. (C) 2004 Elsevier Ltd. All
rights reserved.
Συγγραφείς:
Kamakari, S
Roussou, A
Jefferson, A
Ragoussis, I and
Anagnou, NP
Περιοδικό:
Leukemia Research
Εκδότης:
PERGAMON-ELSEVIER SCIENCE LTD
Λέξεις-κλειδιά:
5q23-31; centromeric to the IL3-TCF-1 subregion; splice variants;
proline-rich N-terminus; lipase motif; potential lipid-modifying enzyme;
Wnt signaling pathway
DOI:
10.1016/j.leukres.2004.04.019
