Faculty Research 1990 - 1999

Title

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

Document Type

Article

Publication Date

1993

Keywords

Animal, Base-Sequence, Chromosome-Mapping, Dwarfism: ge, DNA: ge, Female, Male, Mice, Mice-Mutant-Strains, Molecular-Sequence-Data, Mutation, Phenotype, Receptors-Neurohumor: ge, Somatotropin: df, se, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Nat Genet 1993 Jul;4(3):227-32

Grant

CA54889/CA/NCI, NO1-CO-74101/CO/NCI

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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