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Titolo:
MUTATION R96W IN CYTOCHROME P450C17 GENE CAUSES COMBINED 17-ALPHA-HYDROXYLASE 17-20-LYASE DEFICIENCY IN 2 FRENCH-CANADIAN PATIENTS/
Autore:
LAFLAMME N; LEBLANC JF; MAILLOUX J; FAURE N; LABRIE F; SIMARD J;
Indirizzi:
CHU LAVAL,RES CTR,MRC,GRP MOLEC ENDOCRINOL,2705 LAURIER BLVD QUEBEC CITY PQ G1V 4G2 CANADA CHU LAVAL,RES CTR,MRC,GRP MOLEC ENDOCRINOL QUEBEC CITY PQ G1V 4G2 CANADA CHU LAVAL,DEPT GYNECOL QUEBEC CITY PQ G1V 4G2 CANADA ST FRANCIS ASSISI HOSP QUEBEC CITY PQ CANADA UNIV LAVAL QUEBEC CITY PQ G1V 4G2 CANADA
Titolo Testata:
The Journal of clinical endocrinology and metabolism
fascicolo: 1, volume: 81, anno: 1996,
pagine: 264 - 268
SICI:
0021-972X(1996)81:1<264:MRICPG>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL ADRENAL-HYPERPLASIA; 17,20-LYASE DEFICIENCY; RAT P45017-ALPHA; MOLECULAR-BASIS; CDNA CLONING; EXPRESSION; SEQUENCE; TESTIS; HYDROXYLASE; LYASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
31
Recensione:
Indirizzi per estratti:
Citazione:
N. Laflamme et al., "MUTATION R96W IN CYTOCHROME P450C17 GENE CAUSES COMBINED 17-ALPHA-HYDROXYLASE 17-20-LYASE DEFICIENCY IN 2 FRENCH-CANADIAN PATIENTS/", The Journal of clinical endocrinology and metabolism, 81(1), 1996, pp. 264-268

Abstract

Congenital adrenal hyperplasia (CAH) is the most frequent cause of adrenal insufficiency and ambiguous genitalia in newborn children. In contrast to CAH caused by 2l alpha-hydroxylase and 11 beta-hydroxylase deficiencies, which impairs steroid formation in the adrenal exclusively, 17 alpha-hydroxylase/17,20-lyase deficiency impairs steroid biosynthesis in the adrenals and gonads. The sequence of CYP17 gene was determined by direct sequencing of asymmetric PCR products in two French-Canadian 46,XY pseudohermaphrodite siblings suffering from combined 17 alpha-hydroxylase/17,20-lyase deficiency. The two patients are homozygous for the novel missense mutation R96W caused by a C to T transition converting codon Arg(96) (CGG) into a Trp (TGG) in exon 1. The both parents are heterozygous for this missense mu tation. We assessed the effect of the R96W mutation on 17 alpha-hydroxylase/17,20-lyase activityby analysis of mutant enzyme, generated by site-directed mutagenesis,expressed in COS-1 cells. The presence of R96W substitution almost completely abolished the activity of the mutant protein. The present findings provide a molecular explanation for the signs and symptoms of combined 17 alpha-hydroxylase/17,20-lyase deficiency in these two patients and provide useful information on the structure-activity relationships of the P450c17 enzyme.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 14:49:15