Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance

Hurley, D M; Accili, D; Stratakis, C A; Karl, M; Vamvakopoulos, N; Rorer, E; Constantine, K; Taylor, S I; Chrousos, G P

doi:10.1172/jci115046

Cited by 370Adrenal Hormones and DisordersEstrogen and related hormone effectsHormonal Regulation and Hypertension

Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance

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Hurley, D M, Accili, D, Stratakis, C A, Karl, M, Vamvakopoulos, N, Rorer, E, Constantine, K, Taylor, S I +1 more·1991·Journal of Clinical Investigation

DOI 10.1172/jci115046

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Abstract

Familial glucocorticoid resistance is a hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations in the absence of stigmata of Cushing's syndrome. Our previous studies of the first reported kindred showed a two- to threefold reduction in glucocorticoid receptor-ligand binding affinity in the propositus, and a lesser reduction in affinity in his mildly affected son and nephew. Glucocorticoid receptor cDNA from these three patients was amplified by polymerase chain reaction and sequenced. The cDNA nucleotide sequence was normal, except for nucleotide 2054, which substituted valine for aspartic acid at amino acid residue 641. The propositus was homozygous while the other relatives were heterozygous for the mutation. COS-7 monkey kidney cells were cotransfected with expression vectors for either wild type or Val 641-mutant receptors, together with the reporter plasmid pMMTV-CAT. Dexamethasone increased chloramphenicol acetyltransferase activity in cells expressing wild type receptor, but had no effect in cells expressing Val 641-mutant receptors, despite similar receptor concentrations, as indicated by Western blotting. The binding affinity for dexamethasone of the Val 641-mutant receptor was threefold lower than that of the wild type receptor. These results suggest that glucocorticoid resistance in this family is due to a point mutation in the steroid-binding domain of the glucocorticoid receptor.

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Patients with familial glucocorticoid resistance may be homozygous for missense mutations or heterozygous for a gene deletion, so that in each case some GR activity remains.
“Patients may be homozygous for missense mutations (635) or heterozygous for a gene deletion (636), so that in each case some GR activity remains.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [635]

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Authors: Hurley, D. M., Accili, D., Stratakis, C. A., Karl, M., Vamvakopoulos, N., Rorer, E., Constantine, K., Taylor, S. I., & Chrousos, G. P.
Affiliations: National Institutes of Health (US)
ORCID: Accili, D
Stratakis, C A
Karl, M
Venue: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Published: 1991-02-01
Volume: 87
Issue: 2
Pages: 680-686
ISSN: 0021-9738 (ISSN-L)
DOI: 10.1172/jci115046
OpenAlex: W2106470286
Cited by: 370
References: 41
Citations by year: 2026: 3 · 2025: 2 · 2024: 2 · 2023: 5 · 2022: 3 · 2021: 5 · 2020: 6 · 2019: 10 · 2018: 4 · 2017: 6 · 2016: 7 · 2015: 11 · 2014: 5 · 2013: 9 · 2012: 13
FWCI: 11.65
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Journal of Clinical Investigation (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
Keywords: glucocorticoid receptor, point mutations, amino acid substitutions, hormone-binding domain, steroid binding affinity, dexamethasone, hyperandrogenism, hypertension, cortisol, heterozygous mutation, homozygous mutation, familial kindred
MeSH terms: Amino Acids, Autoradiography, Base Sequence, DNA, Glucocorticoids, Humans, Male, Molecular Sequence Data, Nucleic Acid Hybridization, Pedigree, Plasmids, Receptors, Glucocorticoid, RNA, Blotting, Western, Polymerase Chain Reaction, Mutagenesis, Site-Directed

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Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance

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