메뉴 건너뛰기




Volumn 14, Issue 10, 1999, Pages 960-966

Molecular genetic basis of Gilbert's syndrome

Author keywords

Breast milk; Drug toxicity; Genetic analysis; Glucuronidation; Jaundice; Neonates; Population studies

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE; URIDINE DIPHOSPHATE;

EID: 0032847365     PISSN: 08159319     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1746.1999.01984.x     Document Type: Article
Times cited : (142)

References (47)
  • 3
    • 0030668526 scopus 로고    scopus 로고
    • ATP-dependent transport of bilirubin glucuronides by the multidrug resistance protein MRP1 and its hepatocyte canalicular isoform MRP2
    • Jedlitschky G, Leier I, Bucholz U, Hummel-Eisenbeiss J, Burchell B, Keppler D. ATP-dependent transport of bilirubin glucuronides by the multidrug resistance protein MRP1 and its hepatocyte canalicular isoform MRP2. Biochem. J. 1997; 327: 291-6.
    • (1997) Biochem. J. , vol.327 , pp. 291-296
    • Jedlitschky, G.1    Leier, I.2    Bucholz, U.3    Hummel-Eisenbeiss, J.4    Burchell, B.5    Keppler, D.6
  • 4
    • 0030728222 scopus 로고    scopus 로고
    • Genetic defects of the UDP-glucuronosyltransferase-1 (UGT) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias
    • Clarke DJ, Moghrabi N, Monaghan G, Cassidy A, Boxer M, Burchell B. Genetic defects of the UDP-glucuronosyltransferase-1 (UGT) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias. Clin. Chim. Acta 1997; 266: 63-74.
    • (1997) Clin. Chim. Acta , vol.266 , pp. 63-74
    • Clarke, D.J.1    Moghrabi, N.2    Monaghan, G.3    Cassidy, A.4    Boxer, M.5    Burchell, B.6
  • 5
    • 0041725049 scopus 로고    scopus 로고
    • The structure and function of the UDP-glucuronosyltransferase gene family
    • Burchell B, Brierley CH, Monaghan G, Clarke DJ. The structure and function of the UDP-glucuronosyltransferase gene family. Adv. Pharmacol. 1997; 42: 335-8.
    • (1997) Adv. Pharmacol. , vol.42 , pp. 335-338
    • Burchell, B.1    Brierley, C.H.2    Monaghan, G.3    Clarke, D.J.4
  • 6
    • 0026701911 scopus 로고
    • A novel complex locus UGT-1 encodes human bilirubin, phenol and other UDP-glucuronosyltransferase isoenzymes with identical carboxyl termini
    • Ritter JK, Chen F, Sheen YY et al. A novel complex locus UGT-1 encodes human bilirubin, phenol and other UDP-glucuronosyltransferase isoenzymes with identical carboxyl termini. J. Biol. Chem. 1992; 267: 3257-61.
    • (1992) J. Biol. Chem. , vol.267 , pp. 3257-3261
    • Ritter, J.K.1    Chen, F.2    Sheen, Y.Y.3
  • 9
    • 0345715266 scopus 로고
    • Presence of an additional TA in the TATA box of B-UGT correlates with Gilbert's syndrome
    • Abstract
    • Bosma PJ, Goldhoorn B, Bakker C et al. Presence of an additional TA in the TATA box of B-UGT correlates with Gilbert's syndrome. Hepatology 1995; 20: 226A. (Abstract).
    • (1995) Hepatology , vol.20
    • Bosma, P.J.1    Goldhoorn, B.2    Bakker, C.3
  • 10
    • 0028867826 scopus 로고
    • The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    • Bosma PJ, Chowdhury RJ, Bakker C et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N. Engl. J. Med. 1995; 333: 1171-5.
    • (1995) N. Engl. J. Med. , vol.333 , pp. 1171-1175
    • Bosma, P.J.1    Chowdhury, R.J.2    Bakker, C.3
  • 11
    • 0030030762 scopus 로고    scopus 로고
    • Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome
    • Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996; 347: 578-81.
    • (1996) Lancet , vol.347 , pp. 578-581
    • Monaghan, G.1    Ryan, M.2    Seddon, R.3    Hume, R.4    Burchell, B.5
  • 13
    • 0015223743 scopus 로고
    • Ethanol increases liver uridine-diphosphate-glucuronosyltransferase
    • Ideo G, De Franchis R, Del Ninno E, Dioguardi N. Ethanol increases liver uridine-diphosphate-glucuronosyltransferase. Experientia 1971; 27: 24-5.
    • (1971) Experientia , vol.27 , pp. 24-25
    • Ideo, G.1    De Franchis, R.2    Del Ninno, E.3    Dioguardi, N.4
  • 14
    • 0031850241 scopus 로고    scopus 로고
    • TATA-box promoter mutant in the promoter of UDP-glucuronosyltransferase gene in Italian patients with Gilbert's syndrome
    • Sampietro M, Lupica L, Pettero L, Romano R, Molteni V, Fionelli G. TATA-box promoter mutant in the promoter of UDP-glucuronosyltransferase gene in Italian patients with Gilbert's syndrome. Ital. J. Gastroenterol. Hepatol. 1998; 30: 194-8.
    • (1998) Ital. J. Gastroenterol. Hepatol. , vol.30 , pp. 194-198
    • Sampietro, M.1    Lupica, L.2    Pettero, L.3    Romano, R.4    Molteni, V.5    Fionelli, G.6
  • 15
    • 0032493441 scopus 로고    scopus 로고
    • Racial variability in the UDP-glucuronosyltransferase 1 (UGT2A1) promoter: A balanced polymorphism for regulation of bilirubin metabolism
    • Beutler E, Gelbert T, Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT2A1) promoter: A balanced polymorphism for regulation of bilirubin metabolism. Proc. Natl Acad. Sci. USA 1998; 95: 8170-4.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 8170-8174
    • Beutler, E.1    Gelbert, T.2    Demina, A.3
  • 16
    • 0031595660 scopus 로고    scopus 로고
    • The UGT1A1*28 allele is relatively rare in a Japanese population
    • Ando Y, Chida M, Kazuo N, Saka H, Kamataki T. The UGT1A1*28 allele is relatively rare in a Japanese population. Pharmacogenetics 1998; 8: 357-60.
    • (1998) Pharmacogenetics , vol.8 , pp. 357-360
    • Ando, Y.1    Chida, M.2    Kazuo, N.3    Saka, H.4    Kamataki, T.5
  • 17
    • 0029015847 scopus 로고
    • Gilbert's syndrome is caused by heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
    • Koiwai O, Nishizawa M, Hasada K et al. Gilbert's syndrome is caused by heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum. Mol. Gen. 1995; 4: 1183-6.
    • (1995) Hum. Mol. Gen. , vol.4 , pp. 1183-1186
    • Koiwai, O.1    Nishizawa, M.2    Hasada, K.3
  • 18
    • 0030053274 scopus 로고    scopus 로고
    • The genetic basis of Gilbert's syndrome
    • Sato H, Adachi Y, Koiwai O. The genetic basis of Gilbert's syndrome. Lancet 1996; 347: 557-8.
    • (1996) Lancet , vol.347 , pp. 557-558
    • Sato, H.1    Adachi, Y.2    Koiwai, O.3
  • 19
    • 0031719562 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinaemia and mutation of bilirubin UDP-glucuronosyltransferase gene: A common missense mutation among Japanese, Koreans and Chinese
    • Akaba K, Kimura T, Sasaki A et al. Neonatal hyperbilirubinaemia and mutation of bilirubin UDP-glucuronosyltransferase gene: A common missense mutation among Japanese, Koreans and Chinese. Biochem. Mol. Biol. Int. 1998; 46: 21-6.
    • (1998) Biochem. Mol. Biol. Int. , vol.46 , pp. 21-26
    • Akaba, K.1    Kimura, T.2    Sasaki, A.3
  • 20
    • 0031864410 scopus 로고    scopus 로고
    • Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP-glucuronosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II
    • Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP-glucuronosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochem. Biophys. Acta 1998; 1406: 267-73.
    • (1998) Biochem. Biophys. Acta , vol.1406 , pp. 267-273
    • Yamamoto, K.1    Sato, H.2    Fujiyama, Y.3    Doida, Y.4    Bamba, T.5
  • 21
    • 0028904620 scopus 로고
    • Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome
    • Aono S, Adachi Y, Uyama E et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995; 345: 958-9.
    • (1995) Lancet , vol.345 , pp. 958-959
    • Aono, S.1    Adachi, Y.2    Uyama, E.3
  • 22
    • 0001747399 scopus 로고
    • Hereditary jaundice and disorders of bilirubin metabolism
    • Scriver CR, Beaudet A, Sly W and Valle D, eds. New York: McGraw-Hill
    • Chowdhury RJ, Wolkoff A, Chowdhury RN, Arias IM. Hereditary jaundice and disorders of bilirubin metabolism. In: Scriver CR, Beaudet A, Sly W and Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1995; 2161-208.
    • (1995) The Metabolic Basis of Inherited Disease , pp. 2161-2208
    • Chowdhury, R.J.1    Wolkoff, A.2    Chowdhury, R.N.3    Arias, I.M.4
  • 23
    • 0018574014 scopus 로고
    • Postnatal development of uridine diphosphate glucuronosyltransferase activity towards bilirubin and 2-aminophenol in human liver
    • Onishi S, Kawade N, Itoh S, Isobe K, Sugiyama S. Postnatal development of uridine diphosphate glucuronosyltransferase activity towards bilirubin and 2-aminophenol in human liver. Biochem. J. 1979; 184: 705-7.
    • (1979) Biochem. J. , vol.184 , pp. 705-707
    • Onishi, S.1    Kawade, N.2    Itoh, S.3    Isobe, K.4    Sugiyama, S.5
  • 24
    • 0000621679 scopus 로고
    • Prolonged neonatal unconjugated hyperbilirubinaemia associated with breast-feeding and a steroid, pregnane-3α,20β-diol in maternal milk that inhibits glucuronide formation in vitro
    • Arias IM, Gartner LM, Seifter S, Furman M. Prolonged neonatal unconjugated hyperbilirubinaemia associated with breast-feeding and a steroid, pregnane-3α,20β-diol in maternal milk that inhibits glucuronide formation in vitro. J. Clin. Invest. 1964; 43: 2037-47.
    • (1964) J. Clin. Invest. , vol.43 , pp. 2037-2047
    • Arias, I.M.1    Gartner, L.M.2    Seifter, S.3    Furman, M.4
  • 25
    • 0017861029 scopus 로고
    • Clinical study of prolonged jaundice in breast and bottle-fed babies
    • Winfield CR, MacFaul R. Clinical study of prolonged jaundice in breast and bottle-fed babies. Arch. Dis. Child. 1978; 54: 506-7.
    • (1978) Arch. Dis. Child. , vol.54 , pp. 506-507
    • Winfield, C.R.1    MacFaul, R.2
  • 26
  • 27
    • 0023936363 scopus 로고
    • Jaundice in the healthy newborn infant: A new approach to an old problem
    • Maisels MK, Gifford K, Antle CE, Leib GR. Jaundice in the healthy newborn infant: A new approach to an old problem. Pediatrics 1988; 81: 505-11.
    • (1988) Pediatrics , vol.81 , pp. 505-511
    • Maisels, M.K.1    Gifford, K.2    Antle, C.E.3    Leib, G.R.4
  • 28
    • 0020639259 scopus 로고
    • Neonatal jaundice in full-term infants: Role of breast-feeding and other causes
    • Maisels MJ, Gifford K. Neonatal jaundice in full-term infants: Role of breast-feeding and other causes. Am. J. Dis. Child. 1983; 137: 561-2.
    • (1983) Am. J. Dis. Child. , vol.137 , pp. 561-562
    • Maisels, M.J.1    Gifford, K.2
  • 29
    • 0031949264 scopus 로고    scopus 로고
    • Gilbert syndrome accelerates development of neonatal jaundice
    • Bancroft JD, Kreamer B, Gourley GR. Gilbert syndrome accelerates development of neonatal jaundice. J. Paediatr. 1998; 132: 656-60.
    • (1998) J. Paediatr. , vol.132 , pp. 656-660
    • Bancroft, J.D.1    Kreamer, B.2    Gourley, G.R.3
  • 30
    • 0033510908 scopus 로고    scopus 로고
    • Gilbert's syndrome is a contributory factor in very prolonged unconjugated hyperbilirubinaemia of the newborn
    • in press
    • Monaghan G, McLellan A, McGeechan A et al. Gilbert's syndrome is a contributory factor in very prolonged unconjugated hyperbilirubinaemia of the newborn. J. Pediatr. 1999; (in press).
    • (1999) J. Pediatr.
    • Monaghan, G.1    McLellan, A.2    McGeechan, A.3
  • 31
    • 0016242097 scopus 로고
    • Navajo jaundice: A variant of neonatal hyperbilirubinaemia associated with breast-feeding
    • Saland J, McNamara H, Cohen MI. Navajo jaundice: A variant of neonatal hyperbilirubinaemia associated with breast-feeding. J. Pediatr. 1974; 85: 271-5.
    • (1974) J. Pediatr. , vol.85 , pp. 271-275
    • Saland, J.1    McNamara, H.2    Cohen, M.I.3
  • 32
    • 0018216093 scopus 로고
    • Jaundice and breast-feeding among Alaska Eskimo newborns
    • Fisher Q, Cohen MI, Curda L. Jaundice and breast-feeding among Alaska Eskimo newborns. Am. J. Dis. Child. 1978; 132: 859-63.
    • (1978) Am. J. Dis. Child. , vol.132 , pp. 859-863
    • Fisher, Q.1    Cohen, M.I.2    Curda, L.3
  • 33
    • 0027085807 scopus 로고
    • Jaundice in Navajo neonates
    • Johnson JD. Jaundice in Navajo neonates. Clin. Paediatr. 1992; 12: 716-18.
    • (1992) Clin. Paediatr. , vol.12 , pp. 716-718
    • Johnson, J.D.1
  • 34
    • 0030691028 scopus 로고    scopus 로고
    • Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency. A dose-dependent genetic interaction crucial to neonatal hyperbilirubinaemia
    • Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E. Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency. A dose-dependent genetic interaction crucial to neonatal hyperbilirubinaemia. Proc. Natl Acad. Sci. USA 1997; 94: 12128-32.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 12128-12132
    • Kaplan, M.1    Renbaum, P.2    Levy-Lahad, E.3    Hammerman, C.4    Lahad, A.5    Beutler, E.6
  • 35
    • 0032005254 scopus 로고    scopus 로고
    • UGT promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis
    • Iolascon A, Faienza MF, Moretti A, Perotta S, Miraglia del Giudice E. UGT promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. Blood 1998; 91: 1093.
    • (1998) Blood , vol.91 , pp. 1093
    • Iolascon, A.1    Faienza, M.F.2    Moretti, A.3    Perotta, S.4    Miraglia Del Giudice, E.5
  • 36
    • 0030663191 scopus 로고    scopus 로고
    • The expression of UDP-glucuronosyltransferase is a major determinant of bilirubin level in heterozygous β-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency
    • Sanpietro M, Lupica L, Perrero L et al. The expression of UDP-glucuronosyltransferase is a major determinant of bilirubin level in heterozygous β-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Br. J. Haematol. 1997; 99: 437-9.
    • (1997) Br. J. Haematol. , vol.99 , pp. 437-439
    • Sanpietro, M.1    Lupica, L.2    Perrero, L.3
  • 37
    • 0023187951 scopus 로고
    • Normal pathways for glucuronidation, sulphation and oxidation of paracetamol in Gilbert's syndrome
    • Ullrich D, Sieg A, Blume R, Bock KW, Schrotter W, Bircher J. Normal pathways for glucuronidation, sulphation and oxidation of paracetamol in Gilbert's syndrome. Eur. J. Clin. Invest. 1987; 17: 237-40.
    • (1987) Eur. J. Clin. Invest. , vol.17 , pp. 237-240
    • Ullrich, D.1    Sieg, A.2    Blume, R.3    Bock, K.W.4    Schrotter, W.5    Bircher, J.6
  • 39
    • 0026545451 scopus 로고
    • Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome
    • De Morais SMF, Utetrecht JP, Wells PG. Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome. Gastroenterology 1992; 102: 577-86.
    • (1992) Gastroenterology , vol.102 , pp. 577-586
    • De Morais, S.M.F.1    Utetrecht, J.P.2    Wells, P.G.3
  • 40
    • 0027256828 scopus 로고
    • Paracetamol glucuronidation by recombinant rat and human phenol UDP-glucuronosyltransferase
    • Bock KW, Forster A, Gschaidmeier H et al. Paracetamol glucuronidation by recombinant rat and human phenol UDP-glucuronosyltransferase. Biochem. Pharmacol. 1993; 45: 1809-14.
    • (1993) Biochem. Pharmacol. , vol.45 , pp. 1809-1814
    • Bock, K.W.1    Forster, A.2    Gschaidmeier, H.3
  • 41
    • 0027991904 scopus 로고
    • Investigation of the substrate-specificity of a cloned expressed human bilirubin UDP-glucuronosyltransferase: UDP-sugar specificity and involvement in steroid and xenobiotic glucuronidation
    • Senafi SB, Clarke DJ, Burchell B. Investigation of the substrate-specificity of a cloned expressed human bilirubin UDP-glucuronosyltransferase: UDP-sugar specificity and involvement in steroid and xenobiotic glucuronidation. Biochem. J. 1994; 303: 233-40.
    • (1994) Biochem. J. , vol.303 , pp. 233-240
    • Senafi, S.B.1    Clarke, D.J.2    Burchell, B.3
  • 42
    • 0030221217 scopus 로고    scopus 로고
    • The glucuronidation of exogenous and endogenous compounds by stably expressed rat and human UDP-glucuronosyltransferase 1.1
    • King CD, Green MD, Rios GR et al. The glucuronidation of exogenous and endogenous compounds by stably expressed rat and human UDP-glucuronosyltransferase 1.1. Arch. Biochem. Biophys. 1996; 332: 92-100.
    • (1996) Arch. Biochem. Biophys. , vol.332 , pp. 92-100
    • King, C.D.1    Green, M.D.2    Rios, G.R.3
  • 43
    • 0030716924 scopus 로고    scopus 로고
    • Severe CPT-11 toxicity in patients with Gilbert's syndrome: Two case reports
    • Wasserman E, Myara A, Lokiec F et al. Severe CPT-11 toxicity in patients with Gilbert's syndrome: Two case reports. Ann. Oncol. 1997; 810: 1049-51.
    • (1997) Ann. Oncol. , vol.810 , pp. 1049-1051
    • Wasserman, E.1    Myara, A.2    Lokiec, F.3
  • 44
    • 0030958098 scopus 로고    scopus 로고
    • Pharmacokinetic and pharmacodynamic evaluation of the topoisomerase inhibitor irinotecan in cancer patients
    • Gupta E, Mick R, Ramirez J et al. Pharmacokinetic and pharmacodynamic evaluation of the topoisomerase inhibitor irinotecan in cancer patients. J. Clin. Oncol. 1997; 15: 1502-10.
    • (1997) J. Clin. Oncol. , vol.15 , pp. 1502-1510
    • Gupta, E.1    Mick, R.2    Ramirez, J.3
  • 45
    • 0031926749 scopus 로고    scopus 로고
    • Pathophysiology and therapy of irinotecan-induced onset diarrhoea in patients with advanced colorectal cancer
    • Saliba F, Higipantelli R, Misset JL et al. Pathophysiology and therapy of irinotecan-induced onset diarrhoea in patients with advanced colorectal cancer. J. Clin. Oncol. 1998; 16: 2745-51.
    • (1998) J. Clin. Oncol. , vol.16 , pp. 2745-2751
    • Saliba, F.1    Higipantelli, R.2    Misset, J.L.3
  • 46
    • 0032519431 scopus 로고    scopus 로고
    • Genetic predisposition to the metabolism of irinotecan (CPT11)
    • Iyer L, King CD, Whitington PF et al. Genetic predisposition to the metabolism of irinotecan (CPT11). J. Clin. Invest. 1998; 101: 847-54.
    • (1998) J. Clin. Invest. , vol.101 , pp. 847-854
    • Iyer, L.1    King, C.D.2    Whitington, P.F.3
  • 47
    • 0031661579 scopus 로고    scopus 로고
    • UGT1Al1 genotypes and glucuronidation of SN38, the active metabolite of irinotecan
    • Ando Y, Saka H, Asai G, Suriura S, Shimokata K, Kamataki T. UGT1Al1 genotypes and glucuronidation of SN38, the active metabolite of irinotecan. Ann. Oncol. 1998; 9: 845-7.
    • (1998) Ann. Oncol. , vol.9 , pp. 845-847
    • Ando, Y.1    Saka, H.2    Asai, G.3    Suriura, S.4    Shimokata, K.5    Kamataki, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.