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. 2005 Jan;29(1):17-31. doi: 10.1016/j.leukres.2004.04.019.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alternative Splicing*
  • Amino Acid Sequence
  • Autophagy-Related Protein 8 Family
  • Base Sequence
  • Carrier Proteins / genetics*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5*
  • Gene Expression
  • Humans
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / genetics*
  • Microfilament Proteins
  • Molecular Sequence Data

Substances

  • Adaptor Proteins, Signal Transducing
  • Autophagy-Related Protein 8 Family
  • Carrier Proteins
  • GABARAPL2 protein, human
  • Microfilament Proteins