title: 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.
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.
authors.affiliation: Institute of Molecular Biology and Biotechnology, University of Crete School of Medicine, FORTH, Vassilika Vouton, P.O. Box 1527, 71 110 Heraklion, Greece. kamakari@imbb.forth.gr
authors.forename: Smaragda
authors.initials: S
authors.lastname: Kamakari
authors.forename: Anastasia
authors.initials: A
authors.lastname: Roussou
authors.forename: Andrew
authors.initials: A
authors.lastname: Jefferson
authors.forename: Ioannis
authors.initials: I
authors.lastname: Ragoussis
authors.forename: Nicholas P
authors.initials: NP
authors.lastname: Anagnou
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000071190:Autophagy-Related Protein 8 Family; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D015870:Gene Expression; D006801:Humans; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics*; D008840:Microfilament Proteins; D008969:Molecular Sequence Data
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000071190:Autophagy-Related Protein 8 Family; D002352:Carrier Proteins; C498698:GABARAPL2 protein, human; D008840:Microfilament Proteins