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Titolo:
MOLECULAR-BASIS OF VARIEGATE PORPHYRIA - A MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE
Autore:
FRANK J; LAM H; ZAIDER E; POHFITZPATRICK M; CHRISTIANO AM;
Indirizzi:
COLUMBIA UNIV COLL PHYS & SURG,DEPT DERMATOL,630 W 168TH ST,VC-1526 NEW YORK NY 10032 COLUMBIA UNIV COLL PHYS & SURG,DEPT DERMATOL NEW YORK NY 10032
Titolo Testata:
Journal of Medical Genetics
fascicolo: 3, volume: 35, anno: 1998,
pagine: 244 - 247
SICI:
0022-2593(1998)35:3<244:MOVP-A>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL ADENOMATOUS POLYPOSIS; IDENTIFICATION; CLONING; ENZYMES;
Keywords:
VARIEGATE PORPHYRIA; GARDNERS SYNDROME; PROTOPORPHYRINOGEN OXIDASE GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
J. Frank et al., "MOLECULAR-BASIS OF VARIEGATE PORPHYRIA - A MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE", Journal of Medical Genetics, 35(3), 1998, pp. 244-247

Abstract

Variegate porphyria (VP) is an autosomal dominant disorder characterised by a partial defect in the activity of protoporphyrinogen oxidase (PPO), and has recently been genetically linked to the PPO gene on chromosome 1q22-23 (Z=6.62). In this study, we identified a mutation in the PPO gene in a patient with VP and two unaffected family members. The mutation consisted of a previously unreported T to C transition in exon 13 of the PPO gene, resulting in the substitution of a polar serine by a non-polar proline (S450P). This serine residue is evolutionarily highly conserved in man, mouse, and Bacillus subtilis, attesting to the importance of this residue. Interestingly, the gene for Gardner's syndrome (FAP) also segregates in this family, independently of the VPmutation. Gardner's syndrome or familial adenomatous polyposis (FAP) is also an autosomal dominantly inherited genodermatosis, and typically presents with colorectal cancer in early adult life secondary to extensive adenomatous polyps of the colon. The specific gene on chromosome 5 that is the site of the mutation in this disorder is known as APC (adenomatous polyposis coli), and the gene has been genetically linkedto the region of 5q22.

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Documento generato il 08/07/20 alle ore 08:09:14