Details

Autor(en) / Beteiligte

• Boultwood, Jacqueline
• Pellagatti, Andrea
• Cattan, Helen
• Lawrie, Charles H
• Giagounidis, Aristoteles
• Malcovati, Luca
• Porta, Matteo GDella
• Jadersten, Martin
• Killick, Sally
• Fidler, Carrie
• Cazzola, Mario
• Hellstrom-Lindberg, Eva
• Wainscoat, James S

Titel

Gene expression profiling of CD34 super(+) cells in patients with the 5q- syndrome

Ist Teil von

• British journal of haematology, 2007-11, Vol.139 (4), p.578-589

Erscheinungsjahr

2007

Link zum Volltext

Quelle

Wiley Online Library Journals Frontfile Complete

Beschreibungen/Notizen

• The transcriptome of the CD34 super(+) 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 super(+) 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.