메뉴 건너뛰기




Volumn 11, Issue 11, 1996, Pages 1046-1052

Molecular pathogenesis of hepatic acute porphyrias

Author keywords

Acute porphyrias; cDNA; Coproporphyrinogen oxidase; Gene; Mutations; Porphobilinogen deaminase

Indexed keywords

COPROPORPHYRINOGEN OXIDASE; DNA; PORPHOBILINOGEN DEAMINASE; FLAVOPROTEIN; MITOCHONDRIAL PROTEIN; OXIDOREDUCTASE; PPOX PROTEIN, HUMAN; PROTOPORPHYRINOGEN OXIDASE;

EID: 0030278312     PISSN: 08159319     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1440-1746.1996.tb00035.x     Document Type: Review
Times cited : (26)

References (41)
  • 2
    • 0021188334 scopus 로고
    • Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat
    • Grandchamp B, Romeo PH, Dubart A et al. Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat. Proc. Natl Acad. Sci. USA 1984; 81: 5036-40.
    • (1984) Proc. Natl Acad. Sci. USA , vol.81 , pp. 5036-5040
    • Grandchamp, B.1    Romeo, P.H.2    Dubart, A.3
  • 3
  • 5
    • 0027946035 scopus 로고
    • The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria
    • Brownlie PD, Lambert R, Louie GV et al. The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria. Protein Sci. 1994; 3: 1644-50.
    • (1994) Protein Sci. , vol.3 , pp. 1644-1650
    • Brownlie, P.D.1    Lambert, R.2    Louie, G.V.3
  • 6
    • 0028273724 scopus 로고
    • Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase
    • Martasek P, Camadro JM, Delfau-Larue MH et al. Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. Proc. Natl Acad. Sci. USA 1994; 91: 3024-8.
    • (1994) Proc. Natl Acad. Sci. USA , vol.91 , pp. 3024-3028
    • Martasek, P.1    Camadro, J.M.2    Delfau-Larue, M.H.3
  • 7
    • 0027445653 scopus 로고
    • Coproporphyrinogen oxidase. Purification, molecular cloning, and induction of mRNA during erythroid differentiation
    • Kohno H, Furukawa T, Yoshinaga T, Tokunaga R, Taketani S. Coproporphyrinogen oxidase. Purification, molecular cloning, and induction of mRNA during erythroid differentiation. J. Biol. Chem. 1993; 268: 21 359-63.
    • (1993) J. Biol. Chem. , vol.268 , pp. 21359-21363
    • Kohno, H.1    Furukawa, T.2    Yoshinaga, T.3    Tokunaga, R.4    Taketani, S.5
  • 8
    • 0028125618 scopus 로고
    • Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase
    • Taketani S, Kohno H, Furukawa T, Yoshinaga T, Tokunaga R. Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase. Biochim. Biophys. Acta 1994; 1183: 547-9.
    • (1994) Biochim. Biophys. Acta , vol.1183 , pp. 547-549
    • Taketani, S.1    Kohno, H.2    Furukawa, T.3    Yoshinaga, T.4    Tokunaga, R.5
  • 9
    • 0028169056 scopus 로고
    • Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping
    • Delfau-Larue MH, Martasek P, Grandchamp B. Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping. Hum. Mol. Genet. 1994; 3: 1325-30.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1325-1330
    • Delfau-Larue, M.H.1    Martasek, P.2    Grandchamp, B.3
  • 10
    • 0028940087 scopus 로고
    • Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a heme mutant of Escherichia colt
    • Nishimura K, Taketani S, Inokuchi H. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a heme mutant of Escherichia colt. J. Biol. Ghent. 1995; 270: 8076-80.
    • (1995) J. Biol. Ghent. , vol.270 , pp. 8076-8080
    • Nishimura, K.1    Taketani, S.2    Inokuchi, H.3
  • 11
    • 0025895524 scopus 로고
    • Assignment of human PBGD to 11q24.1→11q24.2 by in situ hybridization and gene dosage studies
    • Namba M, Narahara K, Tsuji K, Yokoyama Y, Seino Y. Assignment of human PBGD to 11q24.1→11q24.2 by in situ hybridization and gene dosage studies. Cytol. Cell. Genet. 1991; 67: 105-8.
    • (1991) Cytol. Cell. Genet. , vol.67 , pp. 105-108
    • Namba, M.1    Narahara, K.2    Tsuji, K.3    Yokoyama, Y.4    Seino, Y.5
  • 12
    • 0023713201 scopus 로고
    • Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression
    • Chretien S, Dubart A, Beaupain D et al. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc. Natl Acad. Sci. USA 1988; 85: 6-10.
    • (1988) Proc. Natl Acad. Sci. USA , vol.85 , pp. 6-10
    • Chretien, S.1    Dubart, A.2    Beaupain, D.3
  • 13
    • 0024534370 scopus 로고
    • Two tissue-specific factors bind the erythroid promoter of the human porphobilinogen deaminase gene
    • Mignotte V, Wall I, Deboer E, Grosveld F, Romeo PH. Two tissue-specific factors bind the erythroid promoter of the human porphobilinogen deaminase gene. Nucleic Acids Res. 1989; 17: 37-54.
    • (1989) Nucleic Acids Res. , vol.17 , pp. 37-54
    • Mignotte, V.1    Wall, I.2    Deboer, E.3    Grosveld, F.4    Romeo, P.H.5
  • 14
    • 0027409758 scopus 로고
    • Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene
    • Yoo HW, Warner CA, Chen CH, Desnick RJ. Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 1993; 15: 21-9.
    • (1993) Genomics , vol.15 , pp. 21-29
    • Yoo, H.W.1    Warner, C.A.2    Chen, C.H.3    Desnick, R.J.4
  • 15
    • 0028001669 scopus 로고
    • Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12
    • Cacheux V, Martasek P, Fougerousse F et al. Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12. Hum. Genet. 1994; 94: 557-9.
    • (1994) Hum. Genet. , vol.94 , pp. 557-559
    • Cacheux, V.1    Martasek, P.2    Fougerousse, F.3
  • 16
    • 0024541345 scopus 로고
    • Tissue-specific splicing mutation in acute intermittent porphyria
    • Grandchamp B, Picat C, Mignotte V et al. Tissue-specific splicing mutation in acute intermittent porphyria. Proc. Natl Acad. Sci. USA 1989; 86: 661-4.
    • (1989) Proc. Natl Acad. Sci. USA , vol.86 , pp. 661-664
    • Grandchamp, B.1    Picat, C.2    Mignotte, V.3
  • 17
    • 0024424094 scopus 로고
    • Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
    • Grandchamp B, Picat C, Kauppinen V et al. Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur. J. Clin. Invest. 1989; 19: 415-18.
    • (1989) Eur. J. Clin. Invest. , vol.19 , pp. 415-418
    • Grandchamp, B.1    Picat, C.2    Kauppinen, V.3
  • 18
    • 0028113944 scopus 로고
    • Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes Variant acute intermittent porphyria' with normal expression of the erythroid-specific enzyme
    • Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ. Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes Variant acute intermittent porphyria' with normal expression of the erythroid-specific enzyme. J. Clin. Invest. 1994; 94: 1927-37.
    • (1994) J. Clin. Invest. , vol.94 , pp. 1927-1937
    • Chen, C.H.1    Astrin, K.H.2    Lee, G.3    Anderson, K.E.4    Desnick, R.J.5
  • 19
    • 0025888932 scopus 로고
    • Identification of the most common mutation within the PBGD gene in Swedish patients with acute intermittent porphyria
    • Lee JS, Anvret M. Identification of the most common mutation within the PBGD gene in Swedish patients with acute intermittent porphyria. Proc. Natl Acad. Sci. USA 1991; 88: 10912-15.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 10912-10915
    • Lee, J.S.1    Anvret, M.2
  • 20
    • 0027155954 scopus 로고
    • High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria
    • Gu XF, De Rooij JS, Lee F et al. High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria. Hum. Genet. 1993; 91: 128-30.
    • (1993) Hum. Genet. , vol.91 , pp. 128-130
    • Gu, X.F.1    De Rooij, J.S.2    Lee, F.3
  • 21
    • 0028347291 scopus 로고
    • Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms
    • Martasek P, Nordmann Y, Grandchamp B. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum. Mol. Genet. 1994; 3: 477-80.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 477-480
    • Martasek, P.1    Nordmann, Y.2    Grandchamp, B.3
  • 23
    • 0028927998 scopus 로고
    • A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria
    • Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B, Nordmann Y. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum. Mol. Genet. 1995; 4: 275-8.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 275-278
    • Lamoril, J.1    Martasek, P.2    Deybach, J.C.3    Da Silva, V.4    Grandchamp, B.5    Nordmann, Y.6
  • 24
    • 0028032023 scopus 로고
    • Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis
    • Gu XF, De Rooij F, Voortman G et al. Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis. Hum. Genet. 1994; 93: 47-52.
    • (1994) Hum. Genet. , vol.93 , pp. 47-52
    • Gu, X.F.1    De Rooij, F.2    Voortman, G.3
  • 25
    • 0028945782 scopus 로고
    • Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
    • Kauppinen R, Mustajoki H, Pihlaja H, Peltonen L, Mustajoki P. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum. Mol. Genet. 1995; 4: 215-22.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 215-222
    • Kauppinen, R.1    Mustajoki, H.2    Pihlaja, H.3    Peltonen, L.4    Mustajoki, P.5
  • 26
    • 0027181454 scopus 로고
    • Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase
    • Llewellyn DH, Whatley S, Elder GH. Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase. Hum. Mol. Genet. 1993; 2: 1315-16.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1315-1316
    • Llewellyn, D.H.1    Whatley, S.2    Elder, G.H.3
  • 27
    • 0026808849 scopus 로고
    • Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA
    • Mgone CS, Lanyon WG, Moore MR, Connor JM. Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA. Hum. Genet. 1992; 90: 12-16.
    • (1992) Hum. Genet. , vol.90 , pp. 12-16
    • Mgone, C.S.1    Lanyon, W.G.2    Moore, M.R.3    Connor, J.M.4
  • 28
    • 0027373331 scopus 로고
    • Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria
    • Gu XF, De Rooij F, De Baar E et al. Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria. Hum. Mol. Genet. 1993; 2: 1735-6.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1735-1736
    • Gu, X.F.1    De Rooij, F.2    De Baar, E.3
  • 29
    • 0028043680 scopus 로고
    • Detection of polymorphisms and mutations in the porphobilinogen deaminase gene by nonisotopic SSCP
    • Letter
    • Schreiber WE, Rozon C, Fong F, Jamani A. Detection of polymorphisms and mutations in the porphobilinogen deaminase gene by nonisotopic SSCP. Clin. Chem. 1994; 40: 1982-3 [Letter].
    • (1994) Clin. Chem. , vol.40 , pp. 1982-1983
    • Schreiber, W.E.1    Rozon, C.2    Fong, F.3    Jamani, A.4
  • 31
    • 0026327963 scopus 로고
    • Molecular heterogeneity of acute intermittent porphyria: Identification of four additional mutations resulting in the CRIM-negative subtype of the disease
    • Delfau MH, Picat C, De Rooij F et al. Molecular heterogeneity of acute intermittent porphyria: Identification of four additional mutations resulting in the CRIM-negative subtype of the disease. Am. J. Hum. Genet. 1991; 49: 421-8.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 421-428
    • Delfau, M.H.1    Picat, C.2    De Rooij, F.3
  • 32
    • 0025034507 scopus 로고
    • Acute intermittent porphyria caused by a C-T mutation that produces a stop codon in the porphobilinogen deaminase gene
    • Scobie GA, Llewellyn DH, Urquhart AJ et al. Acute intermittent porphyria caused by a C-T mutation that produces a stop codon in the porphobilinogen deaminase gene. Hum. Genet. 1990; 85: 631-4.
    • (1990) Hum. Genet. , vol.85 , pp. 631-634
    • Scobie, G.A.1    Llewellyn, D.H.2    Urquhart, A.J.3
  • 33
    • 0026712533 scopus 로고
    • High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria
    • Gu XF, De Rooij F, Voortman G, Te Velde K, Nordmann Y, Grandchamp B. High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria. Am. J. Hum. Genet. 1992; 51: 660-5.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 660-665
    • Gu, X.F.1    De Rooij, F.2    Voortman, G.3    Te Velde, K.4    Nordmann, Y.5    Grandchamp, B.6
  • 34
    • 0025147496 scopus 로고
    • Two different point G to a mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria
    • Delfau MH, Picat C, De Rooij FW et al. Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. J. Clin. Invest. 1990; 86: 1511-16.
    • (1990) J. Clin. Invest. , vol.86 , pp. 1511-1516
    • Delfau, M.H.1    Picat, C.2    De Rooij, F.W.3
  • 35
    • 0028211734 scopus 로고
    • Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria
    • Schreiber WE, Fong F, Jamani A. Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria. Hum. Genet. 1994; 93: 552-6.
    • (1994) Hum. Genet. , vol.93 , pp. 552-556
    • Schreiber, W.E.1    Fong, F.2    Jamani, A.3
  • 36
    • 0027381060 scopus 로고
    • Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
    • Mgone CS, Lanyon WG, Moore MR, Louie GV, Connor JM. Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. Hum. Genet. 1993; 92: 619-22.
    • (1993) Hum. Genet. , vol.92 , pp. 619-622
    • Mgone, C.S.1    Lanyon, W.G.2    Moore, M.R.3    Louie, G.V.4    Connor, J.M.5
  • 37
    • 0027430090 scopus 로고
    • Acute intermittent porphyria caused by aG to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping
    • Daimon M, Yamatani K, Igarashi M et al. Acute intermittent porphyria caused by aG to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping. Hum. Genet. 1993; 92: 549-53.
    • (1993) Hum. Genet. , vol.92 , pp. 549-553
    • Daimon, M.1    Yamatani, K.2    Igarashi, M.3
  • 38
    • 0028209472 scopus 로고
    • Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation
    • Daimon M, Yamatani K, Igarashi M et al. Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation. Hum. Genet. 1994; 93: 533-7.
    • (1994) Hum. Genet. , vol.93 , pp. 533-537
    • Daimon, M.1    Yamatani, K.2    Igarashi, M.3
  • 39
    • 0024326187 scopus 로고
    • A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria
    • Grandchamp B, Picat C, De Rooij F et al. A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. Nucleic Acids Res. 1989; 17: 6637-9.
    • (1989) Nucleic Acids Res. , vol.17 , pp. 6637-6639
    • Grandchamp, B.1    Picat, C.2    De Rooij, F.3
  • 41
    • 0028043195 scopus 로고
    • Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria
    • Fujita H, Kondo M, Taketani S et al. Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. Hum. Mol. Genet. 1994; 3: 1807-10.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1807-1810
    • Fujita, H.1    Kondo, M.2    Taketani, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.