Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Sex, infertility and the molecular biology of the androgen receptor
Autore:
Loy, CJ; Yong, EL;
Indirizzi:
Natl Univ Singapore, Dept Obstet & Gynaecol, Singapore 119074, Singapore Natl Univ Singapore Singapore Singapore 119074 ngapore 119074, Singapore
Titolo Testata:
CURRENT OPINION IN OBSTETRICS & GYNECOLOGY
fascicolo: 3, volume: 13, anno: 2001,
pagine: 315 - 321
SICI:
1040-872X(200106)13:3<315:SIATMB>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
LIGAND-BINDING DOMAIN; NEURONAL INTRANUCLEAR INCLUSIONS; CAG TRINUCLEOTIDE REPEATS; IMPAIRED SPERM PRODUCTION; BULBAR MUSCULAR-ATROPHY; PROSTATE-CANCER RISK; GENE-MUTATIONS; POLYGLUTAMINE TRACTS; TRANSACTIVATION; INSENSITIVITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Yong, EL Natl Univ Singapore, Dept Obstet & Gynaecol, 5 Lower Kent Ridge Rd, Singapore 119074, Singapore Natl Univ Singapore 5 Lower Kent Ridge Rd Singapore Singapore 119074
Citazione:
C.J. Loy e E.L. Yong, "Sex, infertility and the molecular biology of the androgen receptor", CUR OP OBST, 13(3), 2001, pp. 315-321

Abstract

Mutations that totally disrupt androgen receptor function cause the well known testicular feminizing syndrome or complete androgen insensitivity syndrome, wherein a 46 XY individual is completely feminized at birth. Recentlyit has been increasingly obvious that androgen receptor mutations not onlyresult in the complete androgen insensitivity syndrome, but can cause a wide spectrum of milder insensitivity syndromes including ambiguous genitaliain newborn infants, and 'idiopathic' male infertility in otherwise normal males. Characterization of the molecular and structural mechanisms of androgen receptor dysfunction in these cases has led to directed hormonal therapy. Thus the differential response of a Met807Thr mutant androgen receptor to dihydrotestosterone but not testosterone, have been used to restore male genital development in an infant with partial AIS. Of greater significance,because they affect larger numbers of patients, are the mutations and polymorphisms that result in depressed spermatogenesis and male infertility in phenotypic males, Studies involving Singaporean, Australian, North Americanand Japanese subjects have established that increases in length of a trinucleotide repeat (CAG) tract, encoding a polyglutamine stretch in the transactivation domain of the androgen receptor, are associated with increased risk of defective spermatogenesis and undermasculinization. Independent of the CAG repeats, missense amino-acid substitutions in the ligand-binding domain, involving residues 727, 798 and 886 cause infertility through a novel mechanism. Pathogenicity is transmitted, not through defective ligand binding, but through defective protein-protein interactions between receptor domains and coactivator proteins that are essential for gene transcription. Elucidation of the molecular and structural basis of androgen receptor dysfunction in these cases allows precise genetic counseling and can lead to the design of rational hormonal therapy. Curr Opin Obstet Gynecol 13:315-321. (C) 2001 Lippincott Williams & Wilkins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 05:42:40