DOI: 10.1006/bbrc.2002.6683. Identification of a Defect in the UGT1A1 Gene Promoter and Its Association with Hyperbilirubinemia

Identification of a Defect in the UGT1A1 Gene Promoter and Its Association with Hyperbilirubinemia

10.1006/bbrc.2002.6683

Crossref journal-article

Elsevier BV

Biochemical and Biophysical Research Communications (78)

Bibliography

Sugatani, J., Yamakawa, K., Yoshinari, K., Machida, T., Takagi, H., Mori, M., Kakizaki, S., Sueyoshi, T., Negishi, M., & Miwa, M. (2002). Identification of a Defect in the UGT1A1 Gene Promoter and Its Association with Hyperbilirubinemia. Biochemical and Biophysical Research Communications, 292(2), 492â497.

Authors 10

Junko Sugatani (first)
Kasumi Yamakawa (additional)
Kouich Yoshinari (additional)
Takashi Machida (additional)
Hitoshi Takagi (additional)
Masatomo Mori (additional)
Satoru Kakizaki (additional)
Tatsuya Sueyoshi (additional)
Masahiko Negishi (additional)
Masao Miwa (additional)

References 24 Referenced 171

10.1042/bj1200311 / Biochem. J. / Isolation and properties of conjugated bilirubin and bile by Ostrow (1970)
10.1016/S0021-9258(17)35280-8 / J. Biol. Chem. / Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNA with expression in COS 1 cell by Ritter (1991)
10.1097/00008571-199708000-00001 / Pharmacogenetics / The UDP glycosyltransferase gene superfamily: Recommended nomenclature update based on evolutionary divergence by Mackenzie (1997)
10.1056/NEJM199511023331802 / N. Engl. J. Med. / The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome by Bosma (1995)
10.1016/S0140-6736(96)91273-8 / Lancet / Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome by Monaghan (1996)
10.1016/S0022-3476(99)70201-5 / J. Pediatr. / Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn by Monaghan (1999)
10.1016/S0140-6736(95)90702-5 / Lancet / Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome by Aono (1995)
10.1542/peds.106.5.e59 / Pediatrics / Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene by Maruo (2000)
10.1542/peds.103.6.1224 / Pediatrics / Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism by Maruo (1999)
10.1016/S0168-8278(00)80268-8 / J. Hepatol. / Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene by Raijmakers (2000)
10.1016/S0925-4439(98)00013-1 / Biochim. Biophys. Acta / Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler–Najjar syndrome type II by Yamamoto (1998)
10.1016/S0009-8981(97)00167-8 / Clin. Chim. Acta / Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias by Clarke (1997)
10.1016/S0378-4274(99)00209-X / Toxicol. Lett. / Drug-mediated toxicity caused by genetic deficiency of UDP-glucuronosyltransferases by Burchell (2000)
10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z / Hum. Mut. / Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler–Najjar and Gilbert syndromes: Correlation of genotype to phenotype by Kadakol (2000)
10.1056/NEJM196906052802303 / N. Engl. J. Med. / Hepatic bilirubin UDP-glucuronyl transferase activity in liver disease and gilbert's syndrome by Black (1969)
10.1007/BF02776002 / Gastroenterol. Jpn. / Hepatic bilirubin-conjugating enzymes of man in the normal state and in liver disease by Adachi (1982)
10.1053/jhep.2001.24172 / Hepatology / The phenobarbital response enhancer module in the human bilirubin UDP-glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR by Sugatani (2001)
10.1016/S0925-4439(98)00030-1 / Biochim. Biophys. Acta / Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler–Najjar type I disease by Ciotti (1998)
10.1203/00006450-199406000-00002 / Pediatr. Res. / A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler–Najjar syndrome type I by Aono (1994)
10.1007/BF02137719 / Experientia / Ethanol increases liver uridine-diphosphate-glucuronyltransferase by Ideo (1971)
10.3181/00379727-144-37603 / Proc. Soc. Exp. Biol. Med. / Effect of low caloric diet on endogenous carbon monoxide production: Normal adults and Gilbert's syndrome by Bensinger (1973)
10.3109/00365517209080280 / Scand. J. Clin. Lab. Invest. / Enhancement of heme catabolism by caloric restriction in man by Lundh (1972)
10.1172/JCI117604 / J. Clin. Invest. / Discrimination between Crigler–Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase by Seppen (1994)
10.1006/bbrc.1999.0453 / Biochem. Biophys. Res. Commun. / Glucuronidation of 7-ethyl-10-hydroxycamptothecin (SN-38) by the human UDP-glucuronosyltransferases encoded at the UGT1 locus by Ciotti (1999)

Dates

Type	When
Created	22 years, 4 months ago (April 24, 2003, 1:03 p.m.)
Deposited	4 years, 4 months ago (May 3, 2021, 1:36 a.m.)
Indexed	1 week ago (Aug. 30, 2025, 12:45 p.m.)
Issued	23 years, 6 months ago (March 1, 2002)
Published	23 years, 6 months ago (March 1, 2002)
Published Print	23 years, 6 months ago (March 1, 2002)

Funders 0

None

BibTeX

@article{Sugatani_2002, title={Identification of a Defect in the UGT1A1 Gene Promoter and Its Association with Hyperbilirubinemia}, volume={292}, ISSN={0006-291X}, url={http://dx.doi.org/10.1006/bbrc.2002.6683}, DOI={10.1006/bbrc.2002.6683}, number={2}, journal={Biochemical and Biophysical Research Communications}, publisher={Elsevier BV}, author={Sugatani, Junko and Yamakawa, Kasumi and Yoshinari, Kouich and Machida, Takashi and Takagi, Hitoshi and Mori, Masatomo and Kakizaki, Satoru and Sueyoshi, Tatsuya and Negishi, Masahiko and Miwa, Masao}, year={2002}, month=mar, pages={492–497} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        8,
        30
      ]
    ],
    "date-time": "2025-08-30T16:45:26Z",
    "timestamp": 1756572326311
  },
  "reference-count": 24,
  "publisher": "Elsevier BV",
  "issue": "2",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            2002,
            3,
            1
          ]
        ],
        "date-time": "2002-03-01T00:00:00Z",
        "timestamp": 1014940800000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "https://www.elsevier.com/tdm/userlicense/1.0/"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2002,
        3
      ]
    ]
  },
  "DOI": "10.1006/bbrc.2002.6683",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2003,
        4,
        24
      ]
    ],
    "date-time": "2003-04-24T17:03:32Z",
    "timestamp": 1051203812000
  },
  "page": "492-497",
  "source": "Crossref",
  "is-referenced-by-count": 171,
  "title": "Identification of a Defect in the UGT1A1 Gene Promoter and Its Association with Hyperbilirubinemia",
  "prefix": "10.1006",
  "volume": "292",
  "author": [
    {
      "given": "Junko",
      "family": "Sugatani",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Kasumi",
      "family": "Yamakawa",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Kouich",
      "family": "Yoshinari",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Takashi",
      "family": "Machida",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Hitoshi",
      "family": "Takagi",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Masatomo",
      "family": "Mori",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Satoru",
      "family": "Kakizaki",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Tatsuya",
      "family": "Sueyoshi",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Masahiko",
      "family": "Negishi",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Masao",
      "family": "Miwa",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "78",
  "reference": [
    {
      "key": "10.1006/bbrc.2002.6683_RF1",
      "doi-asserted-by": "crossref",
      "first-page": "311",
      "DOI": "10.1042/bj1200311",
      "article-title": "Isolation and properties of conjugated bilirubin and bile",
      "volume": "120",
      "author": "Ostrow",
      "year": "1970",
      "journal-title": "Biochem. J."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF2",
      "doi-asserted-by": "crossref",
      "first-page": "1043",
      "DOI": "10.1016/S0021-9258(17)35280-8",
      "article-title": "Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNA with expression in COS 1 cell",
      "volume": "266",
      "author": "Ritter",
      "year": "1991",
      "journal-title": "J. Biol. Chem."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF3",
      "doi-asserted-by": "crossref",
      "first-page": "255",
      "DOI": "10.1097/00008571-199708000-00001",
      "article-title": "The UDP glycosyltransferase gene superfamily: Recommended nomenclature update based on evolutionary divergence",
      "volume": "7",
      "author": "Mackenzie",
      "year": "1997",
      "journal-title": "Pharmacogenetics"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF4",
      "doi-asserted-by": "crossref",
      "first-page": "1171",
      "DOI": "10.1056/NEJM199511023331802",
      "article-title": "The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome",
      "volume": "333",
      "author": "Bosma",
      "year": "1995",
      "journal-title": "N. Engl. J. Med."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF5",
      "doi-asserted-by": "crossref",
      "first-page": "578",
      "DOI": "10.1016/S0140-6736(96)91273-8",
      "article-title": "Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome",
      "volume": "347",
      "author": "Monaghan",
      "year": "1996",
      "journal-title": "Lancet"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF6",
      "doi-asserted-by": "crossref",
      "first-page": "441",
      "DOI": "10.1016/S0022-3476(99)70201-5",
      "article-title": "Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn",
      "volume": "134",
      "author": "Monaghan",
      "year": "1999",
      "journal-title": "J. Pediatr."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF7",
      "doi-asserted-by": "crossref",
      "first-page": "958",
      "DOI": "10.1016/S0140-6736(95)90702-5",
      "article-title": "Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome",
      "volume": "345",
      "author": "Aono",
      "year": "1995",
      "journal-title": "Lancet"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF8",
      "doi-asserted-by": "crossref",
      "first-page": "E59",
      "DOI": "10.1542/peds.106.5.e59",
      "article-title": "Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene",
      "volume": "106",
      "author": "Maruo",
      "year": "2000",
      "journal-title": "Pediatrics"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF9",
      "doi-asserted-by": "crossref",
      "first-page": "1224",
      "DOI": "10.1542/peds.103.6.1224",
      "article-title": "Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism",
      "volume": "103",
      "author": "Maruo",
      "year": "1999",
      "journal-title": "Pediatrics"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF10",
      "doi-asserted-by": "crossref",
      "first-page": "348",
      "DOI": "10.1016/S0168-8278(00)80268-8",
      "article-title": "Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene",
      "volume": "33",
      "author": "Raijmakers",
      "year": "2000",
      "journal-title": "J. Hepatol."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF11",
      "doi-asserted-by": "crossref",
      "first-page": "267",
      "DOI": "10.1016/S0925-4439(98)00013-1",
      "article-title": "Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler\u2013Najjar syndrome type II",
      "volume": "1406",
      "author": "Yamamoto",
      "year": "1998",
      "journal-title": "Biochim. Biophys. Acta"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF12",
      "doi-asserted-by": "crossref",
      "first-page": "63",
      "DOI": "10.1016/S0009-8981(97)00167-8",
      "article-title": "Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias",
      "volume": "266",
      "author": "Clarke",
      "year": "1997",
      "journal-title": "Clin. Chim. Acta"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF13",
      "doi-asserted-by": "crossref",
      "first-page": "333",
      "DOI": "10.1016/S0378-4274(99)00209-X",
      "article-title": "Drug-mediated toxicity caused by genetic deficiency of UDP-glucuronosyltransferases",
      "volume": "112\u2013113",
      "author": "Burchell",
      "year": "2000",
      "journal-title": "Toxicol. Lett."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF14",
      "doi-asserted-by": "crossref",
      "first-page": "297",
      "DOI": "10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z",
      "article-title": "Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler\u2013Najjar and Gilbert syndromes: Correlation of genotype to phenotype",
      "volume": "16",
      "author": "Kadakol",
      "year": "2000",
      "journal-title": "Hum. Mut."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF15",
      "doi-asserted-by": "crossref",
      "first-page": "1266",
      "DOI": "10.1056/NEJM196906052802303",
      "article-title": "Hepatic bilirubin UDP-glucuronyl transferase activity in liver disease and gilbert's syndrome",
      "volume": "280",
      "author": "Black",
      "year": "1969",
      "journal-title": "N. Engl. J. Med."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF16",
      "doi-asserted-by": "crossref",
      "first-page": "235",
      "DOI": "10.1007/BF02776002",
      "article-title": "Hepatic bilirubin-conjugating enzymes of man in the normal state and in liver disease",
      "volume": "17",
      "author": "Adachi",
      "year": "1982",
      "journal-title": "Gastroenterol. Jpn."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF17",
      "doi-asserted-by": "crossref",
      "first-page": "1232",
      "DOI": "10.1053/jhep.2001.24172",
      "article-title": "The phenobarbital response enhancer module in the human bilirubin UDP-glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR",
      "volume": "33",
      "author": "Sugatani",
      "year": "2001",
      "journal-title": "Hepatology"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF18",
      "doi-asserted-by": "crossref",
      "first-page": "40",
      "DOI": "10.1016/S0925-4439(98)00030-1",
      "article-title": "Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler\u2013Najjar type I disease",
      "volume": "1407",
      "author": "Ciotti",
      "year": "1998",
      "journal-title": "Biochim. Biophys. Acta"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF19",
      "doi-asserted-by": "crossref",
      "first-page": "629",
      "DOI": "10.1203/00006450-199406000-00002",
      "article-title": "A new type of defect in the gene for bilirubin uridine 5\u2032-diphosphate-glucuronosyltransferase in a patient with Crigler\u2013Najjar syndrome type I",
      "volume": "35",
      "author": "Aono",
      "year": "1994",
      "journal-title": "Pediatr. Res."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF20",
      "doi-asserted-by": "crossref",
      "first-page": "24",
      "DOI": "10.1007/BF02137719",
      "article-title": "Ethanol increases liver uridine-diphosphate-glucuronyltransferase",
      "volume": "27",
      "author": "Ideo",
      "year": "1971",
      "journal-title": "Experientia"
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF21",
      "doi-asserted-by": "crossref",
      "first-page": "417",
      "DOI": "10.3181/00379727-144-37603",
      "article-title": "Effect of low caloric diet on endogenous carbon monoxide production: Normal adults and Gilbert's syndrome",
      "volume": "144",
      "author": "Bensinger",
      "year": "1973",
      "journal-title": "Proc. Soc. Exp. Biol. Med."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF22",
      "doi-asserted-by": "crossref",
      "first-page": "421",
      "DOI": "10.3109/00365517209080280",
      "article-title": "Enhancement of heme catabolism by caloric restriction in man",
      "volume": "30",
      "author": "Lundh",
      "year": "1972",
      "journal-title": "Scand. J. Clin. Lab. Invest."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF23",
      "doi-asserted-by": "crossref",
      "first-page": "2385",
      "DOI": "10.1172/JCI117604",
      "article-title": "Discrimination between Crigler\u2013Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase",
      "volume": "94",
      "author": "Seppen",
      "year": "1994",
      "journal-title": "J. Clin. Invest."
    },
    {
      "key": "10.1006/bbrc.2002.6683_RF24",
      "doi-asserted-by": "crossref",
      "first-page": "199",
      "DOI": "10.1006/bbrc.1999.0453",
      "article-title": "Glucuronidation of 7-ethyl-10-hydroxycamptothecin (SN-38) by the human UDP-glucuronosyltransferases encoded at the UGT1 locus",
      "volume": "260",
      "author": "Ciotti",
      "year": "1999",
      "journal-title": "Biochem. Biophys. Res. Commun."
    }
  ],
  "container-title": "Biochemical and Biophysical Research Communications",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://api.elsevier.com/content/article/PII:S0006291X02966830?httpAccept=text/xml",
      "content-type": "text/xml",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://api.elsevier.com/content/article/PII:S0006291X02966830?httpAccept=text/plain",
      "content-type": "text/plain",
      "content-version": "vor",
      "intended-application": "text-mining"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2021,
        5,
        3
      ]
    ],
    "date-time": "2021-05-03T05:36:45Z",
    "timestamp": 1620020205000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://linkinghub.elsevier.com/retrieve/pii/S0006291X02966830"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2002,
        3
      ]
    ]
  },
  "references-count": 24,
  "journal-issue": {
    "issue": "2",
    "published-print": {
      "date-parts": [
        [
          2002,
          3
        ]
      ]
    }
  },
  "alternative-id": [
    "S0006291X02966830"
  ],
  "URL": "http://dx.doi.org/10.1006/bbrc.2002.6683",
  "relation": {},
  "ISSN": [
    "0006-291X"
  ],
  "subject": [],
  "container-title-short": "Biochemical and Biophysical Research Communications",
  "published": {
    "date-parts": [
      [
        2002,
        3
      ]
    ]
  }
}