Protoporphyrinogen oxidase: Complete genomic sequence and polymorphisms in the human gene

被引：28

作者：

Puy, H ^{[1
]}

Robreau, AM ^{[1
]}

Rosipal, R ^{[1
]}

Nordmann, Y ^{[1
]}

Deybach, JC ^{[1
]}

机构：

[1] HOP LOUIS MOURIER,INSERM,U409,CTR FRANCAIS PORPHYRIES,F-92701 COLOMBES,FRANCE

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1996年 / 226卷 / 01期

关键词：

D O I：

10.1006/bbrc.1996.1337

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Variegate porphyria (VP) is an autosomal dominant disorder of heme synthesis caused by a partial deficiency of protoporphyrinogen oxidase (PPOX). Human cDNA encoding PPOX has been recently sequenced and the gene has been cloned, assigned to chromosome 1q23, and its exon/intron organization has been characterized. We report here the complete nucleotide sequence of the Human PPOX gene. Including 660 bp of its promotor region, the PPOX gene spans 5.5 kb. Introns vary in size from 84 bp to 507 bp. Two exonic and 3 intronic biallelic sequence variations have been characterized. (C) 1996 Academic Press, Inc.

引用

页码：226 / 230

页数：5

共 12 条

[1] LINKAGE BETWEEN THE VARIEGATE PORPHYRIA (VP) AND THE ALPHA-1-ANTITRYPSIN (PI) GENES ON HUMAN CHROMOSOME-14 [J].

BISSBORT, S ;

HITZEROTH, HW ;

DUWENTZEL, DP ;

VANDENBERG, CW ;

SENFF, H ;

WIENKER, TF ;

BENDER, K .

HUMAN GENETICS, 1988, 79 (03) :289-290

[2] ENZYMATIC DEFECT IN VARIEGATE PORPHYRIA - STUDIES WITH HUMAN CULTURED SKIN FIBROBLASTS [J].

BRENNER, DA ;

BLOOMER, JR .

NEW ENGLAND JOURNAL OF MEDICINE, 1980, 302 (14) :765-769

[3]

Dailey TA, 1996, PROTEIN SCI, V5, P98

[4]

DAYBACH JC, 1985, EUR J BIOCHEM, V149, P431

[5] THE INHERITED ENZYMATIC DEFECT IN PORPHYRIA VARIEGATA [J].

DEYBACH, JC ;

DEVERNEUIL, H ;

NORDMANN, Y .

HUMAN GENETICS, 1981, 58 (04) :425-428

[6] Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria [J].

Deybach, JC ;

Puy, H ;

Robreau, AM ;

Lamoril, J ;

DaSilva, V ;

Grandchamp, B ;

Nordmann, Y .

HUMAN MOLECULAR GENETICS, 1996, 5 (03) :407-410

[7]

Higuchi R, 1989, PCR TECHNOLOGY PRINC, P31

[8]

Kappas A., 1995, METABOLIC MOL BASES, P2103

[9] A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria [J].

Meissner, PN ;

Dailey, TA ;

Hift, R ;

Ziman, M ;

Corrigall, AV ;

Roberts, AG ;

Meissner, DM ;

Kirsch, RE ;

Dailey, HA .

NATURE GENETICS, 1996, 13 (01) :95-97

[10] CLONING OF A HUMAN CDNA FOR PROTOPORHYRINOGEN OXIDASE BY COMPLEMENTATION IN-VIVO OF A HEMG MUTANT OF ESCHERICHIA-COLI [J].

NISHIMURA, K ;

TAKETANI, S ;

INOKUCHI, H .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (14) :8076-8080

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