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 62-6

Ämneskategorier

Medicinska grundvetenskaper

Medicinsk genetik

DOI

10.1159/000015566

PubMed

10894940