Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance.

doi:10.1210/mend-4-8-1105

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance.

Molecular endocrinology (Baltimore, Md.) - 1 Aug 1990

Marcelli M, Tilley W D, Wilson C M, Griffin J E, Wilson J D, McPhaul M J

Abstract excerpt

We have isolated and characterized the gene encoding the human androgen receptor. The coding sequence is divided into eight coding exons and spans a minimum of 54 kilobases. The positions of the exon boundaries are highly conserved when compared to the location of the exon boundaries of the chicken progesterone and human estrogen receptor genes. Definition of the intron/exon boundaries has permitted the synthesis...

Topics

Amino Acid Sequence
Androgens
Base Sequence
Codon
DNA
Dihydrotestosterone
Drug Resistance
Exons
Fibroblasts
Genitalia, Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Introns

Male

Molecular Sequence Data

Mutagenesis, Site-Directed

Mutation

Polymerase Chain Reaction

RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 2293020
DOI: 10.1210/mend-4-8-1105

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2293020-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance.PMID 2293020Read ↗

A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.Semantic proximity Read ↗

Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation.Semantic proximity Read ↗

Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.Semantic proximity Read ↗

Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.Semantic proximity Read ↗

An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.Semantic proximity Read ↗

Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.Semantic proximity Read ↗

A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.Semantic proximity Read ↗

Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression.Semantic proximity Read ↗

Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.Semantic proximity Read ↗

Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg----Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function.Semantic proximity Read ↗

Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy.Semantic proximity Read ↗

The first detection of complete androgen insensitivity with no mutation in the coding sequence of the androgen receptor gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.