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

Nature Genetics volume 4, pages 227–232 (1993)Cite this article

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.

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Authors and Affiliations

  1. Departments of Biochemistry, Molecular Biology and Cell Biology, Northwestern University, Evanston, Illinois, 60208, USA

    Paul Godfrey, Jason O. Rahal & Kelly E. Mayo

  2. The Jackson Laboratory, Bar Harbor, Maine, 04609, USA

    Wesley G. Beamer

  3. Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research & Development Center, Frederick, Maryland, 21702, USA

    Neal G. Copeland & Nancy A. Jenkins

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Godfrey, P., Rahal, J., Beamer, W. et al. GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat Genet 4, 227–232 (1993). https://doi.org/10.1038/ng0793-227

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