The thrombin receptor gene is centromeric to the common proximal breakpoint in patients with the 5q- syndrome: identification of a previously unrecognized chromosome 5 inversion

Demetrick, D. J., Dewald, G. W., Lanman, J., Bahou, W. F. (February 1996) The thrombin receptor gene is centromeric to the common proximal breakpoint in patients with the 5q- syndrome: identification of a previously unrecognized chromosome 5 inversion. British Journal of Haematology, 92 (2). pp. 339-43. ISSN 0007-1048 (Print)

URL: http://www.ncbi.nlm.nih.gov/pubmed/8602997
DOI: 10.1046/j.1365-2141.1996.d01-1504.x

Abstract

The human thrombin receptor (TR) gene has previously been localized to band q13 of chromosome 5, a site that is at or contiguous with the common proximal breakpoint site identified in the majority of patients with the 5q- syndrome (dysmegakaryocytopoiesis and refractory anaemia). Since thrombin has putative effects on the growth and differentiation of megakaryocytes, we hypothesized that the phenotypic abnormalities in megakaryocytopoiesis observed in the 5q- syndrome may be partially explained by involvement of the TR gene in the interstitial deletion. We have utilized molecular and fluorescence in situ hybridization (FISH) analysis to study potential cytogenetic abnormalities of the thrombin receptor gene in patients demonstrating this abnormality. Dual-label FISH with a q12-specific genomic fragment and the TR gene was completed using interphase and metaphase cells from seven patients with a del(5)(q13q33). Our data demonstrate that the TR gene is located on the centromeric side of the common proximal breakpoint, and is grossly present in all patients with the affected 5q- chromosome. In addition, one of the seven patients demonstrated a small proximal rearrangement, most likely representing a paracentric inversion, which was not apparent by conventional cytogenetic techniques. The significance of these alterations is discussed.

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > genes, structure and function
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein receptor
CSHL Authors:
Communities: CSHL labs > Beach lab
Depositing User: Matt Covey
Date: February 1996
Date Deposited: 22 May 2014 19:38
Last Modified: 22 May 2014 19:38
Related URLs:
URI: http://repository.cshl.edu/id/eprint/30147

Actions (login required)

Administrator's edit/view item Administrator's edit/view item
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving