Fine mapping of the human preprocortistatin gene (CORT) to neuroblastoma consensus deletion region 1p36.3-->p36.2, but absence of mutations in primary tumors.
Artikel i vetenskaplig tidskrift, 2000
The processed product of the human gene preprocortistatin, the peptide cortistatin-17 (hCST-17), bears a strong structural resemblance to the peptide somatostatin (SST), which has an identical receptor binding domain. CST has affinity to all known SST receptor (SSTR) subtypes. Expression of both SST and its receptors has been shown in previous studies to have biological and clinical significance in neuroblastomas, with a putative role in tumor differentiation and apoptosis in vivo. In this work we have employed radiation hybrid mapping and BAC physical mapping to map the human preprocortistatin gene (CORT) to chromosome region 1p36.3-->p36.2, close to the genetic marker D1S244. D1S244 defines the centromeric border of the smallest region of overlap of deletion in our primary neuroblastoma material. We have also defined the genomic sequence of the gene by BAC sequencing and found that preprocortistatin consists of two exons divided by a 1-kb intron. Two polymorphic sites, neither of which causes amino acid exchange, have been detected in the coding region of the gene. Expression studies showed that preprocortistatin is expressed in neuroblastomas of all different stages, as well as in ganglioneuromas. Through genomic sequencing we made mutation analyses of exonic sequences in 49 primary neuroblastomas of all different stages, but no mutations could be detected.
RNA
genetics
genetics
Polymorphism
In Situ Hybridization
Loss of Heterozygosity
genetics
DNA Mutational Analysis
Lod Score
Protein Precursors
Human
Tumor Cells
Neuropeptides
Pair 1
genetics
genetics
Chromosomes
Cultured
Neoplasm Staging
Exons
Base Sequence
analysis
genetics
Fluorescence
Hybrid Cells
Contig Mapping
Introns
Messenger
genetics
Child
genetics
physiology
Molecular Sequence Data
Neuroblastoma
genetics
genetics
Chromosome Deletion
pathology
Consensus Sequence
Mutation
Humans
genetics
Genetic
Författare
Katarina Ejeskär
Göteborgs universitet
Frida Abel
Göteborgs universitet
Rose-Marie Sjöberg
Göteborgs universitet
J Bäckström
Göteborgs universitet
P Kogner
Göteborgs universitet
Tommy Martinsson
Göteborgs universitet
Cytogenetics and Cell Genetics
0301-0171 (ISSN)
Vol. 89 1-2 62-6Ämneskategorier
Medicinska grundvetenskaper
Medicinsk genetik
DOI
10.1159/000015566
PubMed
10894940