Identification of G protein alpha subunit mutations in human growth hormone (GH)- and GH/prolactin-secreting pituitary tumors by single-strand conformation polymorphism (SSCP) analysis.

Abstract

We have applied the polymerase chain reaction (PCR) and single-strand conformation polymorphism analysis (SSCP) to detect activating mutations in the Gs alpha subunit gene, amplifying genomic DNA extracted from growth hormone (GH)- and GH/prolactin (PRL)-secreting human pituitary tumors. Of 15 tumors tested six contained mutations in the analyzed regions of the Gs alpha. SSCP analysis revealed band shift in exon 8 in four GH- and in one GH/PRL-secreting tumors, and in exon 9 in one GH/PRL-secreting tumor. Direct sequencing of PCR reaction products identified the mutations as R201-H, R201-S and R201-C in exon 8 and Q227-L in exon 9. These results show the efficacy of PCR/SSCP analysis in the detection of G protein mutations and extend the generalization that these sites are hot spots in tumor-inducing mutations.

• Authors: R T Drews, R A Gravel, R Collu
• Journal: Molecular and cellular endocrinology (Mol Cell Endocrinol) Vol. 87 Issue 1-3 Pg. 125-9 (Sep 1992) ISSN: 0303-7207 [Print] Ireland
• PMID: 1446784 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon
• DNA, Neoplasm
• DNA, Single-Stranded
• Neoplasm Proteins
• Prolactin
• Growth Hormone
• GTP Phosphohydrolases
• GTP-Binding Proteins

Topics

• Adenoma (genetics, metabolism)
• Base Sequence
• Codon
• DNA Mutational Analysis
• DNA, Neoplasm (genetics)
• DNA, Single-Stranded (genetics)
• Enzyme Activation
• Exons
• GTP Phosphohydrolases (genetics)
• GTP-Binding Proteins (genetics)
• Growth Hormone (metabolism)
• Humans
• Molecular Sequence Data
• Mutation
• Neoplasm Proteins (genetics, metabolism)
• Nucleic Acid Conformation
• Pituitary Neoplasms (genetics, metabolism)
• Polymerase Chain Reaction
• Prolactin (metabolism)