GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
| Autor: | Neal G. Copeland, Paul A. Godfrey, Wesley G. Beamer, Kelly E. Mayo, Nancy A. Jenkins, Jason O. Rahal |
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| Rok vydání: | 1993 |
| Předmět: |
Male
Receptors Neuropeptide medicine.medical_specialty Growth-hormone-releasing hormone receptor Somatotropic cell Molecular Sequence Data Dwarfism Biology medicine.disease_cause Mice Receptors Pituitary Hormone-Regulating Hormone Internal medicine Genetics Extracellular medicine Animals Missense mutation Amino Acid Sequence Receptor Mutation Base Sequence Chromosome Mapping DNA Mice Mutant Strains Growth hormone secretion Receptors Neurotransmitter Phenotype Endocrinology Hormone receptor Growth Hormone Female |
| Zdroj: | Nature Genetics. 4:227-232 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng0793-227 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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