These authors contributed equally to this work.
Gene expression profiling of CD34+ cells in patients with the 5q− syndrome
Version of Record online: 3 OCT 2007
British Journal of Haematology
Volume 139, Issue 4, pages 578–589, November 2007
How to Cite
Boultwood, J., Pellagatti, A., Cattan, H., Lawrie, C. H., Giagounidis, A., Malcovati, L., Porta, M. G. D., Jädersten, M., Killick, S., Fidler, C., Cazzola, M., Hellström-Lindberg, E. and Wainscoat, J. S. (2007), Gene expression profiling of CD34+ cells in patients with the 5q− syndrome. British Journal of Haematology, 139: 578–589. doi: 10.1111/j.1365-2141.2007.06833.x
- Issue online: 8 OCT 2007
- Version of Record online: 3 OCT 2007
- Received 1 July 2007; accepted for publication 31 July 2007
- gene expression profiling;
- 5q− syndrome;
- myelodysplastic syndromes;
- haematopoietic stem cell
The transcriptome of the CD34+ cells was determined in a group of 10 patients with the 5q− syndrome using a comprehensive array platform, and was compared with the transcriptome of CD34+ cells from 16 healthy control subjects and 14 patients with refractory anaemia and a normal karyotype. The majority of the genes assigned to the commonly deleted region (CDR) of the 5q− syndrome at 5q31–q32 showed a reduction in expression levels in patients with the 5q− syndrome, consistent with the loss of one allele. Candidate genes showing haploinsufficiency in the 5q− syndrome included the tumour suppressor gene SPARC and RPS14, a component of the 40S ribosomal subunit. Two genes mapping to the CDR, RBM22 and CSNK1A1, showed a >50% reduction in gene expression, consistent with the downregulation of the remaining allele. This study identified several significantly deregulated gene pathways in patients with the 5q− syndrome and gene pathway analysis data supports the proposal that SPARC may play a role in the pathogenesis of the 5q− syndrome. This study suggests that several of the genes mapping to the CDR of the 5q− syndrome play a role in the pathogenesis of this disorder.