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Research Article Free access | 10.1172/JCI116304

Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.

M Edery, M Rozakis-Adcock, L Goujon, J Finidori, C Lévi-Meyrueis, J Paly, J Djiane, M C Postel-Vinay, and P A Kelly

Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

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Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

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Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

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Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

Find articles by Finidori, J. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

Find articles by Lévi-Meyrueis, C. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

Find articles by Paly, J. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

Find articles by Djiane, J. in: PubMed | Google Scholar

Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

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Institut National de la Santé et de la Recherche Médicale, Unité 344, Faculté Necker-Enfants Malades, Paris, France.

Find articles by Kelly, P. in: PubMed | Google Scholar

Published March 1, 1993 - More info

Published in Volume 91, Issue 3 on March 1, 1993
J Clin Invest. 1993;91(3):838–844. https://doi.org/10.1172/JCI116304.
© 1993 The American Society for Clinical Investigation
Published March 1, 1993 - Version history
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Abstract

A single point mutation in the growth hormone (GH) receptor gene generating a Phe-->Ser substitution in the extracellular binding domain of the receptor has been identified in one family with Laron type dwarfism. The mutation was introduced by site-directed mutagenesis into cDNAs encoding the full-length rabbit GH receptor and the extracellular domain or binding protein (BP) of the human and rabbit GH receptor, and also in cDNAs encoding the full length and the extracellular domain of the related rabbit prolactin (PRL) receptor. All constructs were transiently expressed in COS-7 cells. Both wild type and mutant full-length rabbit GH and PRL receptors, as well as GH and prolactin BPs (wild type and mutant), were detected by Western blot in cell membranes and concentrated culture media, respectively. Immunofluorescence studies showed that wild type and mutant full-length GH receptors had the same cell surface and intracellular distribution and were expressed with comparable intensities. In contrast, all mutant forms (full-length receptors or BPs), completely lost their modify the synthesis ligand. These results clearly demonstrate that this point mutation (patients with Laron syndrome) does not modify the synthesis or the intracellular pathway of receptor proteins, but rather abolishes ability of the receptor or BP to bind GH and is thus responsible for the extreme GH resistance in these patients.

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