Linked Life Data

8918984

Source:http://linkedlifedata.com/resource/pubmed/id/8918984

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5-6
pubmed:dateCreated
1997-1-2
pubmed:abstractText
Mutations in the androgen receptor gene in 46,XY individuals can be associated with the androgen insensitivity syndrome, of which the phenotype can vary from a female phenotype to an undervirilized or infertile male phenotype. We have studied the androgen receptor gene of androgen insensitivity patients to get information about amino acid residues or regions involved in DNA binding and transcription activation. Genomic DNA was analysed by PCR-SSCP under two different conditions. Three new mutations were found in exon 1 of three patients with a female phenotype. A cytosine insertion at codon 42 resulted in a frameshift and consequently in the introduction of a premature stop at codon 171. Deletion of an adenine at codon 263 gave rise to a premature stop at codon 292. In both these cases, receptor protein was not detectable and hormone binding was not measurable. In a third patient, a guanine-to-adenine transition at codon 493 converted a tryptophan codon into a stop codon. Genital skin fibroblasts from this patient were not available. In exon 2 of the androgen receptor gene of a patient with receptor-positive androgen insensitivity, a cytosine-to-adenine transition, converting alanine 564 into an aspartic acid residue, resulted in defective DNA binding and transactivation. In three other receptor-positive androgen insensitivity patients no mutations were found with PCR-SSCP.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0960-0760
pubmed:author
pubmed:issnType
Print
pubmed:volume
58
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
569-75
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Molecular basis of androgen insensitivity.
pubmed:affiliation
Department of Endocrinology & Reproduction, Erasmus University Rotterdam, The Netherlands.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't