|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0002844,
umls-concept:C0015127,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0205197,
umls-concept:C0683598,
umls-concept:C0936016,
umls-concept:C1314792,
umls-concept:C1367578,
umls-concept:C1514562,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1991-4-10
|
|
pubmed:abstractText |
Androgen resistance is associated with a wide range of quantitative and qualitative defects in the androgen receptor. However, fibroblast cultures from approximately 10% of patients with the clinical, endocrine, and genetic features characteristic of androgen resistance express normal quantities of apparently normal androgen receptor in cultured genital skin fibroblasts (receptor-positive androgen resistance). We have analyzed the androgen receptor gene of one patient (P321) with receptor-positive, complete testicular feminization and detected a single nucleotide substitution at nucleotide 2006 (G----C) within the second "zinc finger" of the DNA-binding domain that results in the conversion of the arginine residue at position 615 into a proline residue. Introduction of this mutation into the androgen receptor cDNA and transfection of the expression plasmid into eukaryotic cells lead to the synthesis of a receptor protein that displays normal binding kinetics but is inactive in functional assays of receptor activity. We conclude that substitution mutations in the DNA-binding domain of the androgen receptor are one cause of "receptor-positive" androgen resistance.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2115209,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2177843,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2293020,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2332504,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2339702,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2386943,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2500250,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2849209,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2911578,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-2922054,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-3141145,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-3186717,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-3283939,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-3569121,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-3742595,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-4705382,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-6096224,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-6260957,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-6286831,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-6960240,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1999491-7096535
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
0021-9738
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
87
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1123-6
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:1999491-Androgen-Insensitivity Syndrome,
pubmed-meshheading:1999491-Base Sequence,
pubmed-meshheading:1999491-Cloning, Molecular,
pubmed-meshheading:1999491-DNA-Binding Proteins,
pubmed-meshheading:1999491-Dihydrotestosterone,
pubmed-meshheading:1999491-Humans,
pubmed-meshheading:1999491-Molecular Sequence Data,
pubmed-meshheading:1999491-Mutation,
pubmed-meshheading:1999491-Oligonucleotides,
pubmed-meshheading:1999491-Polymerase Chain Reaction,
pubmed-meshheading:1999491-Receptors, Androgen,
pubmed-meshheading:1999491-Structure-Activity Relationship,
pubmed-meshheading:1999491-Zinc Fingers
|
|
pubmed:year |
1991
|
|
pubmed:articleTitle |
A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.
|
|
pubmed:affiliation |
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|
