Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1992-7-23
pubmed:abstractText
We have discovered two different point mutations in a single codon of the X-linked androgen-receptor (AR) gene in two pairs of unrelated families who have complete androgen insensitivity (resistance) associated with different AR phenotypes in their genital skin fibroblasts. One mutation is a C-to-T transition at a CpG sequence near the 5' terminus of exon 6; it changes the sense of codon 773 from arginine to cysteine, ablates specific androgen-binding activity at 37 degrees C, and eliminates a unique KpnI site at the intron-exon boundary. The other mutation is a G-to-A transition that changes amino acid 773 to histidine and eliminates an SphI site. This mutant AR has a normal androgen-binding capacity at 37 degrees C but has a reduced affinity for androgens and is thermolabile in their presence. Transient transfection of COS cells with cDNA expression vectors yielded little androgen-binding activity at 37 degrees C from Arg773Cys and abundant activity with abnormal properties from Arg773His, thereby providing the pathogenicity of both sequence alterations. This conclusion coincides with the following facts about evolutionary preservation of the position homologous to Arg773 in the AR: it is occupied by Arg or lysine in the progesterone, glucocorticoid, and mineralocorticoid receptors, and it is within a 14-amino-acid region of their steroid-binding domains that share approximately 85% amino acid identity.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-1703791, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-1720929, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-1775137, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-1820979, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-182718, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-1999491, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2010552, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2050265, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2082179, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2188115, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2236003, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2293020, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2339702, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2342476, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2524651, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2563196, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2563431, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2594783, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2810338, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2843770, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-2911578, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-3174628, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-3186717, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-3216866, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-345951, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-3475976, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-3657149, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-3700403, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-3755378, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-6198090, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-6312838, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-6893015, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-861885, http://linkedlifedata.com/resource/pubmed/commentcorrection/1609793-94421
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
143-55
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:1609793-Adolescent, pubmed-meshheading:1609793-Arginine, pubmed-meshheading:1609793-Base Sequence, pubmed-meshheading:1609793-Canada, pubmed-meshheading:1609793-Cysteine, pubmed-meshheading:1609793-Deoxyribonucleases, Type II Site-Specific, pubmed-meshheading:1609793-Disorders of Sex Development, pubmed-meshheading:1609793-Female, pubmed-meshheading:1609793-Histidine, pubmed-meshheading:1609793-Humans, pubmed-meshheading:1609793-Male, pubmed-meshheading:1609793-Middle Aged, pubmed-meshheading:1609793-Molecular Sequence Data, pubmed-meshheading:1609793-Mutation, pubmed-meshheading:1609793-Pedigree, pubmed-meshheading:1609793-Phenotype, pubmed-meshheading:1609793-Polymerase Chain Reaction, pubmed-meshheading:1609793-Receptors, Androgen, pubmed-meshheading:1609793-Transcriptional Activation
pubmed:year
1992
pubmed:articleTitle
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
pubmed:affiliation
Lady Davis Institute, Sir M. B. Davis-Jewish General Hospital, Montreal, Quebec, Canada.
pubmed:publicationType
Journal Article
More...