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Titolo:
A NOVEL SPLICING JUNCTION MUTATION IN THE GENE FOR THE STEROIDOGENIC ACUTE REGULATORY PROTEIN CAUSES CONGENITAL LIPOID ADRENAL-HYPERPLASIA
Autore:
OKUYAMA E; NISHI N; ONISHI S; ITOH S; ISHII Y; MIYANAKA H; FUJITA K; ICHIKAWA Y;
Indirizzi:
KAGAWA MED UNIV,DEPT BIOCHEM KAGAWA 76107 JAPAN KAGAWA MED UNIV,DEPT BIOCHEM KAGAWA 76107 JAPAN KAGAWA MED UNIV,DEPT ENDOCRINOL KAGAWA 76107 JAPAN KAGAWA MED UNIV,DEPT PEDIAT KAGAWA 76107 JAPAN KAGAWA MED UNIV,RES EQUIPMENT CTR KAGAWA 76107 JAPAN OSAKA CITY GEN HOSP,DEPT PEDIAT,TOSHIMA KU OSAKA 534 JAPAN
Titolo Testata:
The Journal of clinical endocrinology and metabolism
fascicolo: 7, volume: 82, anno: 1997,
pagine: 2337 - 2342
SICI:
0021-972X(1997)82:7<2337:ANSJMI>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
SIDE-CHAIN CLEAVAGE; LEYDIG TUMOR-CELLS; STAR GENE; CHOLESTEROL; ENZYME; MITOCHONDRIA; HORMONE; P450SCC; EXPRESSION; 25-HYDROXYCHOLESTEROL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
48
Recensione:
Indirizzi per estratti:
Citazione:
E. Okuyama et al., "A NOVEL SPLICING JUNCTION MUTATION IN THE GENE FOR THE STEROIDOGENIC ACUTE REGULATORY PROTEIN CAUSES CONGENITAL LIPOID ADRENAL-HYPERPLASIA", The Journal of clinical endocrinology and metabolism, 82(7), 1997, pp. 2337-2342

Abstract

Congenital lipoid adrenal hyperplasia (lipoid CAH) is a relatively common genetic disorder of adrenal and gonadal steroidogenesis and is the most severe form of CAH. As typical affected individuals cannot produce any steroid hormones or can only produce low levels of steroid hormones in the adrenals and gonads, including glucocorticoids, mineralcorticoids, and sex steroids, a genetic defect in the cholesterol side-chain cleavage enzyme, cytochrome P450scc (CYPXIA1), has been postulated to be the cause of their insufficient production to date. Recently, Lin and co-workers proved a link between mutations of the steroidogenic acute regulatory protein (StAR) gene and the lipoid CAH phenotype. Therefore, we investigated both the cytochrome P450scc and StAR genes in a Korean family with a fairly mild form of Lipoid CAH to identify the mutation(s) causing this disease. The result was that no mutations could be found in the two genes, except for a thymine (T) insertion into intron 2 of the StAR gene, 3 bp from the splice donor site of exon 2. PCR-amplified StAR genes from a normal subject and the patient were cloned into an expression vector and then introduced into COS-7 cells. Northern blot and reverse transcriptase-PCR analyses indicated that the StAR messenger ribonucleic acid derived from the vector with the normal StAR gene spliced exons 2 and 3 correctly, whereas most, but not all, StAR messenger ribonucleic acid derived from the vector with the T-inserted StAR gene could not remove intron 2. We concluded from these results that the T insertion into the StAR gene accounts for the lipoid CAH phenotype in this patient.

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Documento generato il 29/09/20 alle ore 07:36:55