GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function

Paul Godfrey, Jason O. Rahal, Wesley G. Beamer, Neal G. Copeland, Nancy A. Jenkins, Kelly E. Mayo*

*Corresponding author for this work

Research output: Contribution to journalArticle

322 Scopus citations

Abstract

The growth hormone-releasing hormone receptor (GHRHR) is a member of the family of G protein-coupled receptors that is expressed on pituitary somatotrope cells and mediates the actions of GHRH in stimulating growth hormone (GH) synthesis and secretion. We report that the Ghrhr gene is located in the middle of mouse chromosome 6 in the same region as the little mutation. Mice homozygous for this mutation have reduced GH secretion and a dwarf phenotype. A missense mutation was identified in the extracellular domain of the little GHRHR that disrupts receptor function, suggesting that the growth deficit in these mice results from a defect in the GHRHR. Similar alterations in GHRHR might explain some isolated GH deficiencies in humans.

Original languageEnglish (US)
Pages (from-to)227-232
Number of pages6
JournalNature Genetics
Volume4
Issue number3
DOIs
StatePublished - Jul 1993

ASJC Scopus subject areas

  • Genetics

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